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Hypotrichosis simplex type 7: A rare cause of non-syndromic woolly hair.
Indian J Dermatol Venereol Leprol
December 2024
Department of Dermatology, A.I.I.M.S, Bhubaneswar, Sijua, Patrapada, Odisha, India.
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
View Article and Find Full Text PDFEvaluation of phenotypic risk indicators for the development of alopecia X (hair cycle arrest) in Pomeranian dogs in the Netherlands and Belgium.
Vet Dermatol
April 2025
IVC Evidensia Referral Hospital, EDZ Arnhem, Arnhem, the Netherlands.
Background: Alopecia X (AX) is a common noninflammatory alopecic condition of Pomeranian dogs with an unknown cause. While a genetic aetiology is suspected, no current tests can predict the development of this disorder or confirm the aetiology. Therefore, identifying potential risk indicators for the development of AX would be of value in this breed.
View Article and Find Full Text PDFTrichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFEvidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.
Exp Dermatol
November 2024
Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
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