Results 21 to 30 of about 849 (140)
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
Epidermolytic hyperkeratosis of the vulva [PDF]
Dermatology Online Journal, 2021 Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.
Dai, Christina +4 more
openaire +4 more sources
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
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 +1 more source
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
Dermatopathology, 2021 Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze +2 more
doaj +1 more source
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
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 +1 more source
Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis [PDF]
Dermatology Online Journal, 2021 Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be
Putra, Prasta Bayu +2 more
openaire +4 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 +4 more sources