Results 11 to 20 of about 9,426 (154)
Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis
Journal of Health Science and Medical Research (JHSMR), 2023 Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report a 39-year-old woman with EI, who presented with generalized erythroderma since birth, followed by generalized hyperkeratosis later in life.
Phanitchanat Phusuphitchayanan +2 more
doaj +5 more sources
Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis.
Indian Dermatol Online J, 2020 © 2020 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Dear Editor, A 16‐year‐old girl presented with an asymptomatic localized pigmented scaly lesion on her back since birth.
Adya KA +3 more
europepmc +6 more sources
Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2. [PDF]
Int J Mol Sci, 2022 Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth.
Suzuki Y +6 more
europepmc +6 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 +8 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 +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 +3 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 +3 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 +3 more sources
Epidermolytic Ichthyosis Sine Epidermolysis. [PDF]
Am J Dermatopathol, 2017 Abstract: 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 to correctly direct the molecular analysis. EI is characterized by hyperkeratosis
Eskin-Schwartz M +18 more
europepmc +7 more sources
Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review. [PDF]
Am J Case Rep, 2022 Patient: Female, 3-year-old Final Diagnosis: Annulare epidermolytic ichthyosis Symptoms: Hyperhidrosis • itch • malodorous sweating Medication: — Clinical Procedure: — Specialty: Dermatology Objective: Congenital defects/diseases Background: Annular ...
Almuqarrab FJ +3 more
europepmc +4 more sources