Results 101 to 110 of about 528,814 (282)
Diagnostics, 2020 Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes ...
Tiziana Fioretti +7 more
semanticscholar +1 more source
GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
Animal Genetics, Volume 57, Issue 1, February 2026.Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann +3 more
wiley +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
Human Mutation, 2019 Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non‐syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes.
L. Youssefian +15 more
semanticscholar +1 more source
Bullae and Scales in a Newborn
JEADV Clinical Practice, EarlyView.
Hamad El Hajj +3 more
wiley +1 more source
Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani +5 more
wiley +1 more source
Lamellar congenital ichthyosis in practice of dermatologists
Vestnik Dermatologii i Venerologii, 2017 The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin +4 more
doaj +1 more source
The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier [PDF]
, 2014 This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
Brash, Alan R. +4 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Dermoid cysts are congenital inclusion lesions that arise from ectodermal entrapment along embryonic fusion lines; occipital extracranial involvement is particularly uncommon. Cardiofaciocutaneous syndrome type 4 (CFC4), a RASopathy caused by pathogenic variants in MAP2K2, presents with characteristic dermatologic, craniofacial, and ...
Mona Alkallabi +4 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh +5 more
wiley +1 more source