A ictiose epidermolítica superficial (SEI) é uma ictiose queratinopática (KI) rara, caracterizada pela presença de bolhas superficiais e erosões ao nascimento.
Introdução
O que você precisa saber de cara
A ictiose epidermolítica superficial (SEI) é uma ictiose queratinopática (KI) rara, caracterizada pela presença de bolhas superficiais e erosões ao nascimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Required for maintenance of corneocytes and keratin filaments in suprabasal keratinocytes in the epidermis of the ear, potentially via moderation of expression and localization of keratins and their partner proteins (By similarity). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity)
Cytoplasm
Ichthyosis bullosa of Siemens
A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.
Variantes genéticas (ClinVar)
26 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 epidermolítica superficial
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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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab.
A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.
From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients. To broaden the knowledge of clinical and genetic characteristics of inherited ichthyosis and to optimize disease diagnosis and therapies, cases diagnosed with inherited ichthyosis in 1 tertiary centre from 2019 to 2023 were collected, excluding ichthyosis vulgaris and X-linked recessive ichthyosis, genomic sequencing was then performed, and clinical details of the patients were assessed. A total of 35 patients from Jiangsu and Anhui provinces of China were enrolled, 31 of whom were diagnosed with non-syndromic ichthyosis. Within this group, there were cases of autosomal recessive congenital ichthyosis (18/31), epidermolytic ichthyosis (9/31), and superficial epidermolytic ichthyosis (4/31). Additionally, 4 patients were diagnosed with syndromic ichthyosis, comprising 1 case of Chanarin-Dorfman syndrome and 3 cases of Netherton syndrome. The genetic analysis revealed a total of 47 variants across 13 genes, of which 19 were identified as novel variants. This study describes the clinical spectrum of rare inherited ichthyosis in the Jiangsu-Anhui region of China and further expands the genetic characteristics of the disease.
Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.
Publicações recentes
Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab.
A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.
From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.
📚 EuropePMC13 artigos no totalmostrando 19
Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab.
JAAD case reportsA Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.
The Journal of dermatologyFrom variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.
JAAD internationalThe Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Acta dermato-venereologicaConcurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.
JAAD case reportsFirst Case of Superficial Epidermolytic Ichthyosis Successfully Treated by Dupilumab.
Dermatitis : contact, atopic, occupational, drugClinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Pediatric investigationAlitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.
Dermatology (Basel, Switzerland)Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2.
International journal of molecular sciencesScabies in a 14-year-old girl with superficial epidermolytic ichthyosis.
Pediatric dermatologyEpidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Pediatric dermatologyFirst Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
International journal of molecular sciencesThe first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence.
Molecular genetics & genomic medicineEpidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report.
Saudi journal of medicine & medical sciencesSuperficial epidermolytic ichthyosis concomitant with atopic dermatitis.
European journal of dermatology : EJDSuperficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
Pediatric dermatologyExpanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Acta dermato-venereologicaSuperficial epidermolytic ichthyosis.
Indian journal of dermatology, venereology and leprologySuperficial epidermolytic ichthyosis caused by a novel KRT2 mutation.
Journal of dermatological scienceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Ictiose epidermolítica superficial
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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.
- Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab.
- A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.
- From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response.
- The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
- Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:455(Orphanet)
- OMIM OMIM:146800(OMIM)
- MONDO:0007813(MONDO)
- Ictiose Hereditaria(PCDT · Ministério da Saúde)
- GARD:2966(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5986438(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
