Uma condição que afeta a queratinização, caracterizada por grandes escamas espalhadas por todo o corpo, sem vermelhidão intensa.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 24 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 58 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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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.
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
Cytoplasmic vesicle, secretory vesicle membraneGolgi apparatus membrane
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.
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)
Cell membrane
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.
Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization
Membrane
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.
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
CytoplasmCytoplasm, perinuclear region
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.
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
Secreted
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.
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
Cytoplasm
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.
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
Cytoplasm
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.
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
Cytoplasm, cytosolMicrosomeNucleus
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.
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)
Cell membraneCytoplasm, cytosol
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.
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
Endoplasmic reticulum membraneMicrosome membrane
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.
Variantes genéticas (ClinVar)
372 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 131 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Ensaios em destaque
Pesquisa e ensaios clínicos
17 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Pediatric Lamellar Ichthyosis.
Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.
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.
Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.
This case report describes 2 siblings in their 20s with lamellar ichthyosis.
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
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.
Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
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.
Publicações recentes
Tape strips capture immune and epidermal hyperplasia markers in the major orphan ichthyoses.
Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report.
Pediatric Lamellar Ichthyosis.
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
📚 EuropePMC244 artigos no totalmostrando 195
Pediatric Lamellar Ichthyosis.
Paediatric anaesthesiaBeyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
Frontiers in immunologyExpanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
MedicineEvaluation 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 sciencesLamellar Ichthyosis Improvement With Acitretin and Dupilumab.
JAMA dermatologyA novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.
The Journal of international medical researchOral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings.
International journal of clinical pediatric dentistryGenu Valgum and Lamellar Ichthyosis: Insights into a Rare Presentation.
Journal of orthopaedic case reportsTreatment of Lamellar Ichthyosis in a 10-Year-Old Child With Secukinumab.
Journal of paediatrics and child healthPatterned cicatricial alopecia in two sisters with lamellar ichthyosis.
Indian journal of dermatology, venereology and leprologyNonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient.
Acta dermato-venereologicaA novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.
Frontiers in pediatricsCongenital Bilateral Ectropion in Collodion Infants: A Case Series.
CureusTralokinumab and Acitretin for the Treatment of Lamellar Ichthyosis.
JAMA dermatologyA cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis.
Molecular therapy. Methods & clinical developmentAlopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.
International journal of women's dermatologyVitamin D Supplementation in Congenital Ichthyosis: A Case Series.
Advances in skin & wound careAutosomal Dominant Lamellar Ichthyosis Keeps Surprising Us.
The Journal of investigative dermatologyPonatinib-induced lamellar ichthyosis-like drug eruption.
European journal of dermatology : EJDAssessing the Application of Large Language Models in Generating Dermatologic Patient Education Materials According to Reading Level: Qualitative Study.
JMIR dermatologyCompound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.
Molecular genetics & genomic medicineAutosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.
The Journal of investigative dermatologyCross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology (Basel, Switzerland)Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.
Experimental dermatologyIntegrative Multi-omics Analysis Identifies Genetic Variants Contributing to Non-syndromic Cleft Lip with or without Cleft Palate.
The Chinese journal of dental researchAutosomal recessive ALOX12B gene and consecutive collodion baby.
BMJ case reportsIchthyosis: multinational European study on patient characteristics, involved body sites and impact on quality of life.
The British journal of dermatologyA sustainable strategy for generating highly stable human skin equivalents based on fish collagen.
Biomaterials advancesNew strategies for sterilization and preservation of fresh fish skin grafts.
Scientific reportsCongenital ichthyosis presentation and outcome - A case series.
Journal of family medicine and primary careCorneal Perforation as a Rare Ocular Manifestation in Lamellar Ichthyosis: Case Report and Literature Review.
Indian dermatology online journalAn infant with lamellar ichthyosis presenting with meningitis.
Clinical case reportsLocked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments.
Annals of dermatologyNovel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma.
Annals of dermatologyCYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis.
Journal of the European Academy of Dermatology and Venereology : JEADVCoexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.
SkinmedLamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy.
Pediatric dermatologyCross-sectional nationwide epidemiologic survey on quality of life and treatment efficacy in Japanese patients with congenital ichthyoses.
Journal of dermatological scienceAssessment of collagen content in fish skin - development of a flow analysis method for hydroxyproline determination.
Analytical methods : advancing methods and applicationsA novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability.
European journal of dermatology : EJDPatients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.
The Journal of dermatologyHigh TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "Réunion Paradox".
European journal of medical geneticsExpanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Molecular genetics & genomic medicineOphthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
International ophthalmologyHigh Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis.
Healthcare (Basel, Switzerland)Collodion baby with ectropion in a Syrian newborn: a case report study.
Annals of medicine and surgery (2012)A Case Report of a Collodion Baby: An Autosomal Recessive Genodermatosis.
CureusA novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.
Congenital anomaliesMutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
GenesPhase 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 dermatologyBirth 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 dermatologyIdentification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Medicina (Kaunas, Lithuania)Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Clinical and experimental dermatologyEarly diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report.
Pediatric dermatologyThe successful treatment of Lamellar Ichthyosis-a plastic surgeons perspective.
Journal of surgical case reportsAcral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Journal of the European Academy of Dermatology and Venereology : JEADVClinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.
Pediatric dermatologyAcquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations.
Journal of the European Academy of Dermatology and Venereology : JEADVALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar Organization.
The Journal of investigative dermatologySevere Bilateral Ectropion in Lamellar Ichthyosis: A Case Report.
The American journal of case reportsSecukinumab significantly reduces inflammation but only mildly improves scaling in four cases of autosomal recessive congenital ichthyosis.
Clinical and experimental dermatologyImpaired epidermal barriers in congenital ichthyoses house a changing microbial landscape.
The British journal of dermatologyGeneralized blistering and erythroderma in a young girl.
Pediatric dermatologyBilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation.
Indian journal of ophthalmologyT Helper 17/T Helper 22‒Skewed Inflammation with Epidermal Barrier Dysfunction in Nonmajor Inherited Ichthyosis Subtypes.
The Journal of investigative dermatologySuccessful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.
Biologics : targets & therapyCompound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report.
Pharmacogenomics and personalized medicinePalmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis).
The Journal of dermatologyHarlequin phenomenon in a newborn.
Pediatrics and neonatologyDistinct skin microbiome community structures in congenital ichthyosis.
The British journal of dermatologyCongenital lamellar ichthyosis complicated with erosive pseudo pustulosis: A rare clincal entity. About a case and review of the literature.
Annales de chirurgie plastique et esthetiqueTranscriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.
The Journal of investigative dermatologyCase Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.
Frontiers in geneticsGenotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Pediatric dermatologySafety, 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 DermatologyCurrent Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.
International journal of molecular sciencesCase of ichthyosis with confetti caused by KRT10 mutation, complicated with multiple malignant melanomas.
The Journal of dermatologyProposal for a 6-step approach for differential diagnosis of neonatal erythroderma.
Journal of the European Academy of Dermatology and Venereology : JEADVUnderstanding immune profiles in ichthyosis may lead to novel therapeutic targets.
The Journal of allergy and clinical immunologySecukinumab responses vary across the spectrum of congenital ichthyosis in adults.
Archives of dermatological researchIchthyosis Scoring System-A Powerful Tool in the Era of Immune Pathway-Targeted Therapies for Ichthyosis.
JAMA dermatologyAnalysis 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 : JEADVGlistening film on the dorsal hands and feet of a newborn.
Pediatric dermatologyMultiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report.
Journal of orthopaedic case reportsA multicenter study on quality of life of the "greater patient" in congenital ichthyoses.
Orphanet journal of rare diseasesVitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.
Acta dermato-venereologicaThe Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
Acta dermato-venereologicaEarly escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.
Biomedical journalMolecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Experimental dermatologyTrifarotene: A Current Review and Perspectives in Dermatology.
BiomedicinesPrenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.
Annals of translational medicineCorneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society[Lid manifestations of lamellar ichthyosis].
Journal francais d'ophtalmologieInherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGMeta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
GenesIncreased risk of depression and impairment in quality of life in patients with lamellar ichthyosis.
Dermatologic therapyConsensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
Pediatric dermatologyCombined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases.
Indian journal of ophthalmologyNovel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
American journal of medical genetics. Part AMild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey.
Dermatologic therapySight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report.
Acta dermatovenerologica Croatica : ADCOral manifestations of lamellar ichthyosis in association with rickets.
BMJ case reportsMolecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
Journal of biomolecular structure & dynamicsRecurrent KRT10 Variant in Ichthyosis with Confetti.
Acta dermato-venereologicaMutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
American journal of human geneticsTransepidermal water loss in the orphan forms of ichthyosis.
Pediatric dermatologyAn audiological perspective on ''Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?".
Molecular genetics & genomic medicineNovel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Acta dermato-venereologicaDiscovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
The British journal of dermatologyOphthalmic Consequences of Ichthyosis and the Role of Systemic Retinoids.
Ophthalmic plastic and reconstructive surgery[Collodion baby: A case of lamellar ichthyosis].
Anales de pediatriaPonatinib-induced lamellar ichthyosis-like eruption.
International journal of dermatologyHyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.
Drug safetyNursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit.
Revista da Escola de Enfermagem da U S PIncreased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.
Pediatric dermatologyBathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Pediatric dermatologyCo-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family.
Annals of dermatologyCase of epidermolytic ichthyosis with impairment of pulmonary function and exacerbated skin manifestations in a late middle-aged adult.
The Journal of dermatologyMolecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.
International journal of molecular sciencesRecognition and management of congenital ichthyosis in a low-income setting.
BMJ case reportsThe Potential Uses of N-acetylcysteine in Dermatology: A Review.
The Journal of clinical and aesthetic dermatologyRecessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.
The British journal of dermatologyBiogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
Scientific reportsA novel pig model capturing clinical symptoms of harlequin ichthyosis.
Journal of molecular cell biologyA 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 dermatologyCongenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene.
International journal of dermatologyA novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Molecular genetics & genomic medicineExome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.
Frontiers in pediatricsCongenital ichthyoses: there is always more to learn about managing these rare and complex diseases.
The British journal of dermatologyLEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.
The British journal of dermatologyLichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.
Journal of cutaneous pathologyConsensus, collaboration and care coordination.
The British journal of dermatologyNon-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)Transglutaminase diseases: from biochemistry to the bedside.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAutosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Human mutationErosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft.
JAAD case reportsCompound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
The Journal of dermatologyResults of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.
Journal of the American Academy of DermatologyPott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.
Journal of global infectious diseasesCollodion baby case series: the success of oral retinoic acid.
Turk pediatri arsiviMutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Human mutationIchthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.
The Journal of allergy and clinical immunologySpontaneous subconjunctival abscess in congenital lamellar ichthyosis.
Indian journal of ophthalmologyHigh frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.
Postepy dermatologii i alergologiiLong-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.
The Journal of dermatologyThe 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 dermatologyLamellar ichthyosis in a female neonate without a collodion membrane.
Dermatology online journalHyperlipidemia 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 ESPENNovel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.
Pediatrics and neonatologyApremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.
Ophthalmic plastic and reconstructive surgerySevere ectropion in lamellar ichthyosis managed medically with oral acitretin.
Pediatric dermatologyClinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.
Indian journal of dermatologyAcral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders.
Journal of the European Academy of Dermatology and Venereology : JEADVAcitretin Use in Dermatology.
Journal of cutaneous medicine and surgeryPseudoainhum and autoamputation associated with lamellar ichthyosis.
Indian journal of dermatology, venereology and leprologyEctropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.
Pediatric dermatology[Treatment of Morbus Hodgkin in a Child with Congenital Lamellar Ichthyosis].
Klinische PadiatrieA case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease.
European journal of dermatology : EJDLamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene.
Dermatologic therapyDry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis.
Contact lens & anterior eye : the journal of the British Contact Lens Associational mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.
Journal of human geneticsIchthyosis with confetti presenting as collodion baby: a novel mutation in KRT10.
Clinical and experimental dermatologyLamellar Ichthyosis in Sub-Saharan Africa: Social Stigmatization and Therapeutic Difficulties.
JAMA dermatologyCongenital Ichthyosis: A Case Treated Successfully With Acitretin.
Iranian journal of pediatricsDeficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.
The British journal of dermatologyOmega-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 colloidsConcomitant 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 DiseasesLamellar ichthyosis-like eruption associated with ponatinib.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaExpanding the Mutation Spectrum of Ichthyosis with Confetti.
The Journal of investigative dermatologyAn IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.
The Journal of allergy and clinical immunologyCongenital Ichthyosis - Collodion Baby Case Report.
Journal of clinical and diagnostic research : JCDRTreatment of ichthyosis lamellaris using a series of herbal skin care products family.
Journal of biological regulators and homeostatic agents[Ichthyosis and social stigma in Burkina Faso].
Annales de dermatologie et de venereologieSpectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
Acta dermato-venereologicaInherited ichthyosis: Non-syndromic forms.
The Journal of dermatologyRecurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis.
Pediatric dermatologyCase 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.
F1000ResearchFunctional 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 NeuroscienceTriallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report.
Iranian journal of public healthNeuroactive molecules and growth factors modulate cytoskeletal protein expression during astroglial cell proliferation and differentiation in culture.
Journal of neuroscience researchNovel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
Clinical and experimental dermatologyCollodion Baby with TGM1 gene mutation.
International medical case reports journalA Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature.
Journal of glaucomaHair 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 CentreA New Born with Lamellar ichthyosis(Collodion Baby).
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPPhotoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.
Journal of dermatological case reportsIs "milk crust" a transient form of golden retriever ichthyosis?
Veterinary dermatologyTopical tacrolimus for atopic dermatitis.
The Cochrane database of systematic reviewsUpdate on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Journal of dermatological scienceVitamin D Deficiency After Oral Retinoid Therapy for Ichthyosis.
Pediatric dermatologyOcular involvement in lamellar Ichthyosis.
Indian journal of dermatology, venereology and leprologyEpidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
Pediatrics international : official journal of the Japan Pediatric SocietyNovel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.
Indian journal of dermatology, venereology and leprologyLamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.
The Journal of dermatologyA novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Clinical and experimental dermatologyAssociações
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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.
- Pediatric Lamellar Ichthyosis.
- Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.
- Lamellar Ichthyosis Improvement With Acitretin and Dupilumab.
- Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
- Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
- Tape strips capture immune and epidermal hyperplasia markers in the major orphan ichthyoses.
- Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:313(Orphanet)
- MONDO:0017778(MONDO)
- Ictiose Hereditaria(PCDT · Ministério da Saúde)
- GARD:10803(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
