Raras
Buscar doenças, sintomas, genes...
Ictiose lamelar
ORPHA:313CID-10 · Q80.2CID-11 · EC20.02PCDT · SUSDOENÇA RARA

Uma condição que afeta a queratinização, caracterizada por grandes escamas espalhadas por todo o corpo, sem vermelhidão intensa.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Uma condição que afeta a queratinização, caracterizada por grandes escamas espalhadas por todo o corpo, sem vermelhidão intensa.

Pesquisas ativas
1 ensaio
17 total registrados no ClinicalTrials.gov
Publicações científicas
511 artigos
Último publicado: 2026 Apr 9

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Neonatal
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponívelTriagem neonatal (Fase 5)CID-10: Q80.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
13 sintomas
🦴
Ossos e articulações
5 sintomas
🧠
Neurológico
3 sintomas
👁️
Olhos
3 sintomas
👂
Ouvidos
2 sintomas
😀
Face
2 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

90%prev.
Ausência de elasticidade da pele
Muito frequente (99-80%)
90%prev.
Eritrodermia
Muito frequente (99-80%)
90%prev.
Ectrópio
Muito frequente (99-80%)
90%prev.
Morfologia anormal da unha
Muito frequente (99-80%)
90%prev.
Ictiose
Muito frequente (99-80%)
90%prev.
Pele seca
Muito frequente (99-80%)
58sintomas
Muito frequente (10)
Frequente (2)
Ocasional (9)
Sem dados (37)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 58 características clínicas mais associadas, ordenadas por frequência.

Ausência de elasticidade da peleLack of skin elasticity
Muito frequente (99-80%)90%
EritrodermiaErythroderma
Muito frequente (99-80%)90%
EctrópioEctropion
Muito frequente (99-80%)90%
Morfologia anormal da unhaAbnormality of the nail
Muito frequente (99-80%)90%
IctioseIchthyosis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico511PubMed
Últimos 10 anos200publicações
Pico202328 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

10 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

ABCA12Glucosylceramide transporter ABCA12Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function (PubMed:16007253, PubMed:20869849). In the meantime, participates in the transport of the lamellar g

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (1)
ABC transporters in lipid homeostasis
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 4A

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

OUTRAS DOENÇAS (4)
autosomal recessive congenital ichthyosis 4Bautosomal recessive congenital ichthyosis 4Acongenital non-bullous ichthyosiform erythrodermalamellar ichthyosis
HGNC:14637UniProt:Q86UK0
NIPAL4Magnesium transporter NIPA4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway (PubMed:15317751)

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Miscellaneous transport and binding events
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 6

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Sun Exposed Lower leg
79.9 TPM
Skin Not Sun Exposed Suprapubic
79.3 TPM
Vagina
20.0 TPM
Brain Spinal cord cervical c-1
20.0 TPM
Esôfago - Mucosa
17.2 TPM
OUTRAS DOENÇAS (3)
autosomal recessive congenital ichthyosis 6congenital non-bullous ichthyosiform erythrodermalamellar ichthyosis
HGNC:28018UniProt:Q0D2K0
ASPRV1Retroviral-like aspartic protease 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization

LOCALIZAÇÃO

Membrane

MECANISMO DE DOENÇA

Ichthyosis, lamellar, autosomal dominant

An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus.

OUTRAS DOENÇAS (2)
ichthyosis, lamellar, autosomal dominantlamellar ichthyosis
HGNC:26321UniProt:Q53RT3
ALOX12BArachidonate 12-lipoxygenase, 12R-typeDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:21558561, PubMed:9618483, PubMed:9837935). In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyce

LOCALIZAÇÃO

CytoplasmCytoplasm, perinuclear region

VIAS BIOLÓGICAS (1)
Synthesis of 12-eicosatetraenoic acid derivatives
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 2

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

OUTRAS DOENÇAS (4)
autosomal recessive congenital ichthyosis 2self-healing collodion babylamellar ichthyosiscongenital non-bullous ichthyosiform erythroderma
HGNC:430UniProt:O75342
LIPNLipase member NDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Plays a highly specific role in the last step of keratinocyte differentiation. Contains two distinct domains: the alpha/beta hydrolase fold and the abhydrolase-associated lipase region, also features the consensus sequence of the active site of a genuine lipase. May have an essential function in lipid metabolism of the most differentiated epidermal layers

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Formation of the cornified envelope
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 8

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Not Sun Exposed Suprapubic
16.6 TPM
Skin Sun Exposed Lower leg
12.7 TPM
Sangue
7.5 TPM
Pulmão
1.4 TPM
Baço
1.2 TPM
OUTRAS DOENÇAS (2)
autosomal recessive congenital ichthyosis 8lamellar ichthyosis
HGNC:23452UniProt:Q5VXI9
ALOXE3Hydroperoxide isomerase ALOXE3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols and ketones (PubMed:12881489, PubMed:17045234, PubMed:20923767). In presence of oxygen, oxygenates

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
Synthesis of 12-eicosatetraenoic acid derivatives
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 3

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

OUTRAS DOENÇAS (4)
autosomal recessive congenital ichthyosis 3self-healing collodion babycongenital non-bullous ichthyosiform erythrodermalamellar ichthyosis
HGNC:13743UniProt:Q9BYJ1
SDR9C7Short-chain dehydrogenase/reductase family 9C member 7Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Plays a crucial role in the formation of the epidermal permeability barrier (PubMed:31671075). Catalyzes the NAD+-dependent dehydrogenation of the linoleate 9,10-trans-epoxy-11E-13-alcohol esterified in omega-O-acylceramides (such as in N-[omega-(9R,10R)-epoxy-(13R)-hydroxy-(11E)-octadecenoyloxy]-acylsphing-4E-enine) to the corresponding 13-ketone, the reactive moiety required for binding of epidermal ceramides to proteins (PubMed:31671075). Displays weak conversion of all-trans-retinal to all-t

LOCALIZAÇÃO

Cytoplasm

VIAS BIOLÓGICAS (1)
The canonical retinoid cycle in rods (twilight vision)
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 13

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Sun Exposed Lower leg
96.6 TPM
Skin Not Sun Exposed Suprapubic
84.8 TPM
Vagina
28.2 TPM
Esôfago - Mucosa
18.3 TPM
Testículo
2.2 TPM
OUTRAS DOENÇAS (3)
ichthyosis, congenital, autosomal recessive 13congenital non-bullous ichthyosiform erythrodermalamellar ichthyosis
HGNC:29958UniProt:Q8NEX9
SULT2B1Sulfotransferase 2B1Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589875). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:12145317, PubMed:16855051, PubMed:21855633, PubMed:9799594). Preferentially sulfonates cholesterol, while it also has significant activity with pregnenolone and DHEA (P

LOCALIZAÇÃO

Cytoplasm, cytosolMicrosomeNucleus

VIAS BIOLÓGICAS (1)
Cytosolic sulfonation of small molecules
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 14

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Esôfago - Mucosa
248.9 TPM
Skin Not Sun Exposed Suprapubic
185.0 TPM
Skin Sun Exposed Lower leg
176.9 TPM
Vagina
156.4 TPM
Próstata
23.9 TPM
OUTRAS DOENÇAS (3)
ichthyosis, congenital, autosomal recessive 14congenital non-bullous ichthyosiform erythrodermalamellar ichthyosis
HGNC:11459UniProt:O00204
TGM1Protein-glutamine gamma-glutamyltransferase KDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (PubMed:7629111, PubMed:8824274, PubMed:26220141, PubMed:20663883). Responsible for cross-linking epidermal proteins during formation of the stratum corneum (PubMed:26220141). Involved in cell proliferation (PubMed:26220141)

LOCALIZAÇÃO

Cell membraneCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Formation of the cornified envelope
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 1

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
684.1 TPM
Vagina
135.0 TPM
Skin Sun Exposed Lower leg
80.0 TPM
Skin Not Sun Exposed Suprapubic
76.3 TPM
Cerebelo
18.7 TPM
OUTRAS DOENÇAS (6)
autosomal recessive congenital ichthyosis 1acral self-healing collodion babybathing suit ichthyosisself-healing collodion baby
HGNC:11777UniProt:P22735
CYP4F22Ultra-long-chain fatty acid omega-hydroxylaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synthesis of three classes of omega-hydroxy-ultra-long chain fatty acylceramides having sphingosine, 6-hydroxysphingosine and phytosphingosine bases, all major lipid components that underlie the permeability barrier of the stratum corneum (PubMed:26056268). Me

LOCALIZAÇÃO

Endoplasmic reticulum membraneMicrosome membrane

VIAS BIOLÓGICAS (4)
Miscellaneous substratesSynthesis of Leukotrienes (LT) and Eoxins (EX)EicosanoidsFatty acids
MECANISMO DE DOENÇA

Ichthyosis, congenital, autosomal recessive 5

A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

EXPRESSÃO TECIDUAL(Tecido-específico)
Skin Sun Exposed Lower leg
95.0 TPM
Skin Not Sun Exposed Suprapubic
79.0 TPM
Vagina
32.0 TPM
Esôfago - Mucosa
21.8 TPM
Fígado
3.6 TPM
OUTRAS DOENÇAS (2)
autosomal recessive congenital ichthyosis 5lamellar ichthyosis
HGNC:26820UniProt:Q6NT55

Variantes genéticas (ClinVar)

372 variantes patogênicas registradas no ClinVar.

🧬 ABCA12: NM_173076.3(ABCA12):c.7541_7542+1del ()
🧬 ABCA12: NM_173076.3(ABCA12):c.1131C>G (p.Tyr377Ter) ()
🧬 ABCA12: NM_173076.3(ABCA12):c.5128+3A>G ()
🧬 ABCA12: NM_173076.3(ABCA12):c.1087_1088del (p.Asp363fs) ()
🧬 ABCA12: NM_173076.3(ABCA12):c.1783-1G>A ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 131 variantes classificadas pelo ClinVar.

124
7
Patogênica (94.7%)
VUS (5.3%)
VARIANTES MAIS SIGNIFICATIVAS
CYP4F22: NM_173483.4(CYP4F22):c.982G>A (p.Glu328Lys) [Likely pathogenic]
ALOX12B: NM_001139.3(ALOX12B):c.1248C>A (p.Asn416Lys) [Likely pathogenic]
ABCA12: NM_173076.3(ABCA12):c.1657+1G>A [Likely pathogenic]
TGM1: NM_000359.3(TGM1):c.1070G>A (p.Gly357Asp) [Likely pathogenic]
ABCA12: NM_173076.3(ABCA12):c.2125del (p.Met709fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
2Fase 22
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 9 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Ictiose lamelar

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

17 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
160 papers (10 anos)
#1

Pediatric Lamellar Ichthyosis.

Paediatric anaesthesia2026 Feb 12
#2

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

International journal of molecular sciences2025 Oct 14

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of inherited keratinization disorders with diffuse skin lesions. It includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and fetal ichthyosis. The common pathognomonic feature is generalized neonatal erythroderma. Lamellar ichthyosis is caused by mutations in the TGM1 gene encoding transglutaminase 1 (TGM1), leading to a functional deficiency of the enzyme in the epidermis. TGM1 deficiency causes severe keratinization defects and skin barrier impairment (leading to metabolic disorders, growth delay, and bacterial infections), with severe cases risking potentially fatal sepsis. Current therapeutic approaches are only symptomatic. In this study, we analyzed the functionality and safety of an adeno-associated viral vector of serotype 2 encoding TGM1 (AAV2-TGM1) for gene therapy of lamellar ichthyosis. The functionality of AAV2-TGM1 was confirmed in vitro on HEK293, HaCaT, and SH-SY5Y cells and human primary fibroblasts. A significant increase in TGM1 mRNA, protein levels, and enzymatic activity was shown. The vector was characterized and applied in vivo in rats and pigs. Intradermal injection and topical application resulted in increased protein levels in the skin, as shown by PCR and immunofluorescence. Safety was confirmed by the absence of significant histological, biochemical, and cellular changes. The results demonstrate the promise of AAV2-TGM1 for dermal application in gene therapy of lamellar ichthyosis.

#3

Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.

JAMA dermatology2025 Dec 01

This case report describes 2 siblings in their 20s with lamellar ichthyosis.

#4

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Frontiers in immunology2025

Pathogenic variants in ALOX12B, a crucial enzyme involved in epidermal lipid processing, are among the most common causes of autosomal recessive congenital ichthyosis (ARCI). Although traditionally considered a cutaneous disorder, the systemic immunological implications of ALOX12B deficiency remain poorly understood. We aimed to broaden the dermatologic and immunologic spectrum of ALOX12B-associated ARCI by characterizing the clinical, immunologic, and genetic features of six patients from three consanguineous families. This prospective study included six patients with ALOX12B-associated ARCI identified through whole-exome sequencing. Detailed dermatological evaluations, infection histories, immunoglobulin profiles, lymphocyte subset analyses, and vaccine response assessments were performed. All patients exhibited early-onset generalized ichthyosis, ranging from delayed-onset lamellar ichthyosis to collodion membrane presentations accompanied by nonbullous erythroderma. Two distinct biallelic ALOX12B variants were identified: a novel p.Thr383Lys and the known p.Cys544Arg. Several patients demonstrated recurrent bacterial or fungal infections (n = 5), markedly elevated serum IgE levels (n = 4), and isolated abnormalities in vaccine responsiveness (n = 2). Lymphocyte counts and other immunoglobulin classes were generally preserved; however, decreased IgG levels were observed in one patient (P3.1). Intravenous immunoglobulin replacement therapy reduced the frequency of infections in patients (P1.1 and P1.2). Our findings suggest that ALOX12B-related ARCI may involve secondary immune dysregulation, driven by chronic compromise of the epidermal barrier. An immunologic evaluation is warranted in selected cases, particularly those with a history of susceptibility to infections. Multidisciplinary care, encompassing dermatology, immunology, and genetics, is crucial for achieving optimal outcomes in ARCI.

#5

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Medicine2025 Nov 21

Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal disorder caused by pathogenic mutations in GJB2 gene, which encodes the gap junction protein connexin 26. While the condition is traditionally defined by a triad of keratitis, ichthyosis, and sensorineural hearing loss, emerging evidence suggests that connexin 26 dysfunction may lead to broader systemic involvement. This case highlights a rare presentation with neurological and musculoskeletal abnormalities. A 3-year-old female born at 31 weeks of gestation presented with a history of global developmental delay, recurrent seizures, photophobia, and thick hyperkeratotic skin changes. At birth, she was encased in a collodion membrane and exhibited bilateral eyelid malposition. Her development was marked by delayed milestones, joint stiffness, and poor weight gain. Clinical findings included vascularizing keratitis, lamellar ichthyosis, and right-sided sensorineural hearing loss confirmed by auditory brainstem response testing. Brain imaging revealed moderate enlargement of the cerebral ventricles, and skeletal surveys demonstrated developmental dysplasia of the hip and congenital muscular torticollis. A clinical diagnosis of KID syndrome was made based on the constellation of cutaneous, auditory, neurological, and musculoskeletal abnormalities. While genetic testing was unavailable, the phenotype was strongly suggestive of a pathogenic GJB2 mutation. Although KID syndrome is most commonly caused by autosomal dominant, frequently de novo, mutations-particularly the D50N variant-the apparent autosomal recessive pattern in this pedigree may reflect parental mosaicism, reduced penetrance, or variable expressivity. The patient received coordinated multidisciplinary care. Dermatologic management involved intensive emollient therapy. Ophthalmologic care included lubricants and surgical correction of eyelid malposition. Antiepileptic medication was initiated for seizure control. Physical therapy addressed joint contractures and improved motor function. Following early intervention, dermatologic symptoms stabilized, seizure activity diminished, and gradual improvements in physical function were observed. However, developmental delay and structural brain abnormalities persisted, requiring long-term follow-up and therapy. Parental compliance multidisciplinary care were essential for optimizing care. This case highlights potential atypical manifestations of KID syndrome, including seizures, ventriculomegaly, torticollis, and hip dysplasia, that may reflect a broader but under-recognized phenotypic range.

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2026

Pediatric Lamellar Ichthyosis.

Paediatric anaesthesia
2025

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.

Frontiers in immunology
2025

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Medicine
2025

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

International journal of molecular sciences
2025

Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.

JAMA dermatology
2025

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.

The Journal of international medical research
2025

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings.

International journal of clinical pediatric dentistry
2025

Genu Valgum and Lamellar Ichthyosis: Insights into a Rare Presentation.

Journal of orthopaedic case reports
2025

Treatment of Lamellar Ichthyosis in a 10-Year-Old Child With Secukinumab.

Journal of paediatrics and child health
2024

Patterned cicatricial alopecia in two sisters with lamellar ichthyosis.

Indian journal of dermatology, venereology and leprology
2025

Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient.

Acta dermato-venereologica
2024

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.

Frontiers in pediatrics
2024

Congenital Bilateral Ectropion in Collodion Infants: A Case Series.

Cureus
2024

Tralokinumab and Acitretin for the Treatment of Lamellar Ichthyosis.

JAMA dermatology
2024

A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis.

Molecular therapy. Methods &amp; clinical development
2024

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.

International journal of women's dermatology
2024

Vitamin D Supplementation in Congenital Ichthyosis: A Case Series.

Advances in skin &amp; wound care
2024

Autosomal Dominant Lamellar Ichthyosis Keeps Surprising Us.

The Journal of investigative dermatology
2024

Ponatinib-induced lamellar ichthyosis-like drug eruption.

European journal of dermatology : EJD
2024

Assessing the Application of Large Language Models in Generating Dermatologic Patient Education Materials According to Reading Level: Qualitative Study.

JMIR dermatology
2024

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Molecular genetics &amp; genomic medicine
2024

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.

The Journal of investigative dermatology
2024

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Dermatology (Basel, Switzerland)
2024

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

Experimental dermatology
2024

Integrative Multi-omics Analysis Identifies Genetic Variants Contributing to Non-syndromic Cleft Lip with or without Cleft Palate.

The Chinese journal of dental research
2024

Autosomal recessive ALOX12B gene and consecutive collodion baby.

BMJ case reports
2024

Ichthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.

The British journal of dermatology
2024

A sustainable strategy for generating highly stable human skin equivalents based on fish collagen.

Biomaterials advances
2024

New strategies for sterilization and preservation of fresh fish skin grafts.

Scientific reports
2023

Congenital ichthyosis presentation and outcome - A case series.

Journal of family medicine and primary care
2023

Corneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review.

Indian dermatology online journal
2023

An infant with lamellar ichthyosis presenting with meningitis.

Clinical case reports
2023

Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments.

Annals of dermatology
2023

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.

Annals of dermatology
2024

CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.

Skinmed
2024

Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy.

Pediatric dermatology
2024

Cross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses.

Journal of dermatological science
2023

Assessment of collagen content in fish skin - development of a flow analysis method for hydroxyproline determination.

Analytical methods : advancing methods and applications
2023

A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.

European journal of dermatology : EJD
2024

Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.

The Journal of dermatology
2023

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".

European journal of medical genetics
2023

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Molecular genetics &amp; genomic medicine
2023

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.

International ophthalmology
2023

High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis.

Healthcare (Basel, Switzerland)
2023

Collodion baby with ectropion in a Syrian newborn: a case report study.

Annals of medicine and surgery (2012)
2023

A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis.

Cureus
2023

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.

Congenital anomalies
2023

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Genes
2023

Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis.

Clinical and experimental dermatology
2023

Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.

The British journal of dermatology
2023

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Medicina (Kaunas, Lithuania)
2023

Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.

Clinical and experimental dermatology
2023

Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report.

Pediatric dermatology
2023

The successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective.

Journal of surgical case reports
2023

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

Pediatric dermatology
2023

Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations.

Journal of the European Academy of Dermatology and Venereology : JEADV
2023

ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.

The Journal of investigative dermatology
2022

Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report.

The American journal of case reports
2022

Secukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis.

Clinical and experimental dermatology
2022

Impaired epidermal barriers in congenital ichthyoses house a changing microbial landscape.

The British journal of dermatology
2022

Generalized blistering and erythroderma in a young girl.

Pediatric dermatology
2022

Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation.

Indian journal of ophthalmology
2022

T Helper 17/T Helper 22‒Skewed Inflammation with Epidermal Barrier Dysfunction in Nonmajor Inherited Ichthyosis Subtypes.

The Journal of investigative dermatology
2022

Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.

Biologics : targets &amp; therapy
2022

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.

Pharmacogenomics and personalized medicine
2022

Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis).

The Journal of dermatology
2022

Harlequin phenomenon in a newborn.

Pediatrics and neonatology
2022

Distinct skin microbiome community structures in congenital ichthyosis.

The British journal of dermatology
2022

Congenital lamellar ichthyosis complicated with erosive pseudo pustulosis: A rare clincal entity. About a case and review of the literature.

Annales de chirurgie plastique et esthetique
2022

Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.

The Journal of investigative dermatology
2022

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Frontiers in genetics
2022

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

Pediatric dermatology
2022

Safety, tolerability, and efficacy of a novel topical isotretinoin formulation for the treatment of X-linked or lamellar congenital ichthyosis: Results from a phase 2a proof-of-concept study.

Journal of the American Academy of Dermatology
2022

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

International journal of molecular sciences
2022

Case of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas.

The Journal of dermatology
2022

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Journal of the European Academy of Dermatology and Venereology : JEADV
2022

Understanding immune profiles in ichthyosis may lead to novel therapeutic targets.

The Journal of allergy and clinical immunology
2023

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Archives of dermatological research
2022

Ichthyosis Scoring System-A Powerful Tool in the Era of Immune Pathway-Targeted Therapies for Ichthyosis.

JAMA dermatology
2022

Analysis of the structure and function of the epidermal barrier in patients with ichthyoses-clinical and electron microscopical investigations.

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

Glistening film on the dorsal hands and feet of a newborn.

Pediatric dermatology
2021

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report.

Journal of orthopaedic case reports
2021

A multicenter study on quality of life of the "greater patient" in congenital ichthyoses.

Orphanet journal of rare diseases
2021

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Acta dermato-venereologica
2021

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Acta dermato-venereologica
2021

Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.

Biomedical journal
2021

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Experimental dermatology
2021

Trifarotene: A Current Review and Perspectives in Dermatology.

Biomedicines
2021

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Annals of translational medicine
2020

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2021

[Lid manifestations of lamellar ichthyosis].

Journal francais d'ophtalmologie
2021

Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2021

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Genes
2021

Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis.

Dermatologic therapy
2021

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Pediatric dermatology
2020

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases.

Indian journal of ophthalmology
2020

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

American journal of medical genetics. Part A
2020

Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey.

Dermatologic therapy
2020

Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report.

Acta dermatovenerologica Croatica : ADC
2020

Oral manifestations of lamellar ichthyosis in association with rickets.

BMJ case reports
2021

Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

Journal of biomolecular structure &amp; dynamics
2020

Recurrent KRT10 Variant in Ichthyosis with Confetti.

Acta dermato-venereologica
2020

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

American journal of human genetics
2020

Transepidermal water loss in the orphan forms of ichthyosis.

Pediatric dermatology
2020

An audiological perspective on ''Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?".

Molecular genetics &amp; genomic medicine
2020

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.

Acta dermato-venereologica
2020

Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.

The British journal of dermatology
2021

Ophthalmic Consequences of Ichthyosis and the Role of Systemic Retinoids.

Ophthalmic plastic and reconstructive surgery
2021

[Collodion baby: A case of lamellar ichthyosis].

Anales de pediatria
2020

Ponatinib-induced lamellar ichthyosis-like eruption.

International journal of dermatology
2020

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Drug safety
2019

Nursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit.

Revista da Escola de Enfermagem da U S P
2020

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.

Pediatric dermatology
2020

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Pediatric dermatology
2019

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family.

Annals of dermatology
2019

Case of epidermolytic ichthyosis with impairment of pulmonary function and exacerbated skin manifestations in a late middle-aged adult.

The Journal of dermatology
2019

Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.

International journal of molecular sciences
2019

Recognition and management of congenital ichthyosis in a low-income setting.

BMJ case reports
2019

The Potential Uses of N-acetylcysteine in Dermatology: A Review.

The Journal of clinical and aesthetic dermatology
2020

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

The British journal of dermatology
2019

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.

Scientific reports
2019

A novel pig model capturing clinical symptoms of harlequin ichthyosis.

Journal of molecular cell biology
2019

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.

International journal of dermatology
2019

Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene.

International journal of dermatology
2019

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Molecular genetics &amp; genomic medicine
2019

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Frontiers in pediatrics
2019

Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases.

The British journal of dermatology
2019

LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

The British journal of dermatology
2019

Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.

Journal of cutaneous pathology
2019

Consensus, collaboration and care coordination.

The British journal of dermatology
2019

Non-invasive analysis of skin mechanical properties in patients with lamellar ichthyosis.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2019

Transglutaminase diseases: from biochemistry to the bedside.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2019

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Human mutation
2018

Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft.

JAAD case reports
2018

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.

The Journal of dermatology
2019

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

Journal of the American Academy of Dermatology
2018

Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.

Journal of global infectious diseases
2018

Collodion baby case series: the success of oral retinoic acid.

Turk pediatri arsivi
2018

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Human mutation
2019

Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.

The Journal of allergy and clinical immunology
2018

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.

Indian journal of ophthalmology
2018

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.

Postepy dermatologii i alergologii
2018

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

The Journal of dermatology
2018

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

The Journal of investigative dermatology
2018

Lamellar ichthyosis in a female neonate without a collodion membrane.

Dermatology online journal
2018

Hyperlipidemia secondary to acitretin therapy for lamellar ichthyosis associated with a NIPAL4 mutation improves on a plant-based diet and relapses on a standard Western diet.

Clinical nutrition ESPEN
2018

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

Pediatrics and neonatology
2018

Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.

Ophthalmic plastic and reconstructive surgery
2018

Severe ectropion in lamellar ichthyosis managed medically with oral acitretin.

Pediatric dermatology
2017

Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.

Indian journal of dermatology
2018

Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders.

Journal of the European Academy of Dermatology and Venereology : JEADV
2017

Acitretin Use in Dermatology.

Journal of cutaneous medicine and surgery
2017

Pseudoainhum and autoamputation associated with lamellar ichthyosis.

Indian journal of dermatology, venereology and leprology
2017

Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.

Pediatric dermatology
2017

[Treatment of Morbus Hodgkin in a Child with Congenital Lamellar Ichthyosis].

Klinische Padiatrie
2017

A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease.

European journal of dermatology : EJD
2017

Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene.

Dermatologic therapy
2018

Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis.

Contact lens &amp; anterior eye : the journal of the British Contact Lens Association
2017

al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.

Journal of human genetics
2017

Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10.

Clinical and experimental dermatology
2017

Lamellar Ichthyosis in Sub-Saharan Africa: Social Stigmatization and Therapeutic Difficulties.

JAMA dermatology
2016

Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

Iranian journal of pediatrics
2017

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

The British journal of dermatology
2016

Omega-O-Acylceramides in Skin Lipid Membranes: Effects of Concentration, Sphingoid Base, and Model Complexity on Microstructure and Permeability.

Langmuir : the ACS journal of surfaces and colloids
2016

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
2016

Lamellar ichthyosis-like eruption associated with ponatinib.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2016

Expanding the Mutation Spectrum of Ichthyosis with Confetti.

The Journal of investigative dermatology
2017

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.

The Journal of allergy and clinical immunology
2016

Congenital Ichthyosis - Collodion Baby Case Report.

Journal of clinical and diagnostic research : JCDR
2016

Treatment of ichthyosis lamellaris using a series of herbal skin care products family.

Journal of biological regulators and homeostatic agents
2016

[Ichthyosis and social stigma in Burkina Faso].

Annales de dermatologie et de venereologie
2016

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta dermato-venereologica
2016

Inherited ichthyosis: Non-syndromic forms.

The Journal of dermatology
2016

Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis.

Pediatric dermatology
2015

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

F1000Research
2015

Functional and Physical Interaction of Diacylglycerol Kinase ζ with Protein Kinase Cα Is Required for Cerebellar Long-Term Depression.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2015

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report.

Iranian journal of public health
2016

Neuroactive molecules and growth factors modulate cytoskeletal protein expression during astroglial cell proliferation and differentiation in culture.

Journal of neuroscience research
2016

Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.

Clinical and experimental dermatology
2015

Collodion Baby with TGM1 gene mutation.

International medical case reports journal
2016

A Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature.

Journal of glaucoma
2016

Hair and Scalp Disorders in a Tuscan Pediatric Dermatological Outpatient Clinic: A Clinical and Epidemiological Evaluation.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre
2015

A New Born with Lamellar ichthyosis(Collodion Baby).

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2015

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.

Journal of dermatological case reports
2015

Is "milk crust" a transient form of golden retriever ichthyosis?

Veterinary dermatology
2015

Topical tacrolimus for atopic dermatitis.

The Cochrane database of systematic reviews
2015

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Journal of dermatological science
2015

Vitamin D Deficiency After Oral Retinoid Therapy for Ichthyosis.

Pediatric dermatology
2015

Ocular involvement in lamellar Ichthyosis.

Indian journal of dermatology, venereology and leprology
2015

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

Pediatrics international : official journal of the Japan Pediatric Society
2015

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.

Indian journal of dermatology, venereology and leprology
2015

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.

The Journal of dermatology
2015

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Clinical and experimental dermatology
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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Pediatric Lamellar Ichthyosis.
    Paediatric anaesthesia· 2026· PMID 41677380mais citado
  2. Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.
    International journal of molecular sciences· 2025· PMID 41155269mais citado
  3. Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.
    JAMA dermatology· 2025· PMID 41123899mais citado
  4. Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
    Frontiers in immunology· 2025· PMID 41346588mais citado
  5. Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
    Medicine· 2025· PMID 41305774mais citado
  6. Tape strips capture immune and epidermal hyperplasia markers in the major orphan ichthyoses.
    J Invest Dermatol· 2026· PMID 41966446recente
  7. Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report.
    Int Med Case Rep J· 2026· PMID 41940243recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:313(Orphanet)
  2. MONDO:0017778(MONDO)
  3. Ictiose Hereditaria(PCDT · Ministério da Saúde)
  4. GARD:10803(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q3804556(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Ictiose lamelar
Compêndio · Raras BR

Ictiose lamelar

ORPHA:313 · MONDO:0017778
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
Q80.2 · Ictiose lamelar
CID-11
Ensaios
1 ativos
Início
Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C4551630
EuropePMC
Wikidata
Papers 10a
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