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
Irina Paipilla Hernández +2 more
exaly +4 more sources
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 +3 more sources
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis [PDF]
Journal of DermatologyAbstract Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal‐dominant ...
Gilles Diercks +2 more
exaly +3 more sources
A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. [PDF]
PLoS ONE, 2022 A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis.
Verena K Affolter +4 more
doaj +2 more sources
Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link [PDF]
JAAD Case ReportsAhmed Shah, Isabelle A Vallerand
exaly +4 more sources
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis [PDF]
Clinical Case Reports, 2020 Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.
Francesca Caroppo +5 more
doaj +2 more sources
A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene [PDF]
Indian Journal of Dermatology, 2021 We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform ...
Lihong Chen +4 more
doaj +2 more sources
Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report [PDF]
Saudi Journal of Medicine and Medical Sciences, 2018 In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles.
Ali A Al Raddadi +5 more
doaj +2 more sources
First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]
Frontiers in ImmunologyIchthyoses, a group of skin cornification disorders caused by protein and lipid abnormalities that disrupt epidermal functions, are mainly characterized by generalized scaling.
Wenjie Cheng +23 more
doaj +2 more sources
Epidermolytic ichthyosis: New insights and ongoing challenges. [PDF]
J Eur Acad Dermatol VenereolJournal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 893-894, May 2025.
Mazereeuw-Hautier J.
europepmc +2 more sources