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
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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
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Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]
Mol Genet Genomic MedThe aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M +3 more
europepmc +2 more sources
Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. [PDF]
J Am Acad Dermatol, 2008 Ross R +5 more
europepmc +3 more sources
Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis. [PDF]
Vet DermatolBackground – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Rietmann SJ +7 more
europepmc +2 more sources
A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation
Pifu-xingbing zhenliaoxue zazhi, 2022 A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported. A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques.
Wencong XU +5 more
doaj +1 more source
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 +1 more source
A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate [PDF]
, 2017 Satyaranjan Pegu +3 more
openalex +2 more sources
Systematized linear epidermolytic hyperkeratosis [PDF]
Dermatology Online Journal, 2014 A 5-year-old boy presented with widespread asymptomatic hyperpigmented verrucous plaques since 3 months of age. The lesions were distributed in a linear manner along Blaschko's lines on trunk and extremities and were accentuated in flexures and around joints.
Kumar, Piyush +3 more
openaire +5 more sources
Bilateral systematized epidermolytic verrucous epidermal nevus: A rare entity
Indian Journal of Dermatology, 2015 Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia.
Vivek Mishra +3 more
doaj +1 more source