Systematized epidermolytic epidermal nevus (ichthyosis hystrix) [PDF]
Scripta Scientifica Medica, 2015 Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically
Guleva, Dimitrina +3 more
core +4 more sources
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort. [PDF]
J Eur Acad Dermatol VenereolBackground Keratinopathic ichthyoses are a group of hereditary skin disorders caused by pathogenic variants in keratin genes such as KRT1, KRT2 and KRT10, resulting in conditions such as epidermolytic ichthyosis (EI), autosomal-recessive EI, superficial
Frommherz L +11 more
europepmc +3 more sources
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. [PDF]
Clin Exp Dermatol, 2019 Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
Smith FJD +5 more
europepmc +4 more sources
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
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 +2 more sources
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194).
Yue Li +4 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
SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis. [PDF]
Animal Genetics, 2023 Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9-month-old Chihuahua showing excessive scale formation.
Castilla, Eloy +4 more
core +4 more sources
Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis [PDF]
Sensors, 2021 Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different ...
Pálma Anker +13 more
doaj +3 more sources
Report of an autosomal recessive epidermolytic ichthyosis
Indian Journal of Paediatric Dermatology, 2020 Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan +3 more
doaj +2 more sources