Results 1 to 10 of about 11,448 (231)
Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report [PDF]
Clinical Case ReportsWe present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 ...
Elke Smits +4 more
doaj +5 more sources
Epidermolytic Hyperkeratosis - case report [PDF]
Anais Brasileiros de Dermatologia, 2015 : Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm ...
Marcos Takeyoshi Hayashida +5 more
doaj +7 more sources
Superficial epidermolytic ichthyosis in a neonate
Indian Journal of Paediatric Dermatology, 2023 Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade +2 more
doaj +2 more sources
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis [PDF]
The Turkish Journal of Pediatrics, 2018 Epidermolytic hyperkeratosis (EHK) is a rare genodermatosis whose prevalence is less than 1 in 100,000. Mutations in either the keratin 1 or keratin 10 genes lead to EHK characterized by congenital erythema and epidermal blisters at birth, followed by ...
Chenyu Zhao +4 more
doaj +2 more sources
Epidermolytic Ichthyosis Sine Epidermolysis [PDF]
The American Journal of Dermatopathology, 2017 Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required ...
Drozhdina, Marianna +18 more
core +6 more sources
Disseminated epidermolytic acanthoma probably related to trauma [PDF]
, 1999 Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. Only seven cases of disseminated epidermolytic acanthoma (DEA) have been described. This entity should be distinguished from other
España, A. (Agustín) +2 more
core +3 more sources
Annular epidermolytic ichthyosis: a case report and literature review, [PDF]
Anais Brasileiros de Dermatologia, 2020 Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita +3 more
doaj +3 more sources
CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse [PDF]
Molecular Therapy: Nucleic Acids, 2018 CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders.
Xiao-Rui Luan +7 more
doaj +2 more sources
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]
Acta Dermato-VenereologicaInherited 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.
Ruiyu Xiang +7 more
doaj +2 more sources
Mosaic epidermolytic ichthyosis - case report [PDF]
Anais Brasileiros de Dermatologia, 2013 Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma.
Marcela Sena Teixeira Mendes +4 more
doaj +5 more sources