Results 71 to 80 of about 1,421 (196)
Bilateral systematised epidermolytic epidermal nevus: A case report [PDF]
, 2021 Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK).
Kerawala, Sabeika R +2 more
core +2 more sources
An in‐frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma [PDF]
, 2023 journal ...
Akiyama, Masashi +5 more
core +1 more source
Recurrent KRT10 Variant in Ichthyosis with Confetti
Acta Dermato-Venereologica, 2020 is missing (Short communication)
Takuya Takeichi +8 more
doaj +1 more source
Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core
ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. [PDF]
, 2021 Ichthyoses are hereditary skin disorders characterized by the formation of scales and defects in the outermost layer of the epidermis. In dogs, at least six different breed-specific ichthyoses including a relatively common PNPLA1-related autosomal ...
Casal, Margret L +7 more
core +1 more source
Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis
Pediatric Dermatology, 2021 AbstractA 14‐year‐old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months’ duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare pathogenic variant in the keratin 2 (KRT2) gene, confirming a diagnosis of superficial epidermolytic ...
Igor Vázquez‐Osorio +5 more
openaire +3 more sources
Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj +1 more source
Italian Journal of Pediatrics, 2022 Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra +7 more
doaj +1 more source
Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities
, 2000 The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core +1 more source
Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs
Veterinary Sciences, 2018 A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs.
Lisa Graziano +2 more
doaj +1 more source