Results 81 to 90 of about 7,127 (212)
Indian Journal of Dermatology, 2008 Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we
Kumar Pramod, Sharma P, Kar H
doaj
Reproduction in Domestic Animals, Volume 60, Issue 5, May 2025.ABSTRACT This study describes a novel model of farm‐based congenital defect recording, with use of accessory data from a national breeding organisation. The study ran from 2014 to 2023 inclusive resulting in 522 reports of bovine congenital defects with additional data available for a subset (369/522).
Katie Quigley, John F. Mee
wiley +1 more source
Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype
Indian Journal of Dermatology, 2019 Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter +5 more
doaj +1 more source
Clinical Case Reports, 2021 Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
doaj +1 more source
Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari +2 more
wiley +1 more source
PSS14 VALIDATION OF THE EYELASH SATISFACTION FOLLOW-UP QUESTIONNAIRE FOR FOLLOW-UP SELF-ASSESSMENT OF EYELASH SATISFACTION [PDF]
, 2002 Recent hypotheses on the action of antidepressants imply a modulation of excitatory amino acid transmission. Here, the effects of long-term antidepressant application in rats with the drug tianeptine were examined at hippocampal CA3 commissural ...
Burgess, SM +6 more
core +2 more sources
Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature
Pediatric Dermatology, Volume 42, Issue 2, Page 305-310, March/April 2025.ABSTRACT We describe a 1‐day old female with features of keratitis‐ichthyosis‐deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration.
Sarah Maarouf +3 more
wiley +1 more source
Woolly hair nevus: case report and review of literature [PDF]
, 2020 Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings.
Gomes, Tiago Fernandes +2 more
core
Activation of Transient Receptor Potential Vanilloid 3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes [PDF]
, 2018 K
Angyal, Ágnes +13 more
core +1 more source
Hair fragility (trichorrhexis nodosa) in alopecic Pomeranian dogs
Veterinary Dermatology, Volume 36, Issue 1, Page 64-73, February 2025.Background – Alopecia associated with hair cycle arrest (HCA, Alopecia X) is well‐recognised in Pomeranian dogs. The authors are unaware of reports of hair fragility in affected dogs. Hypothesis/Objectives – Following the observation of frequent hair shaft abnormalities in alopecic Pomeranians, we hypothesised that hair fragility events would be more ...
Erin Brennan +6 more
wiley +1 more source