Pharmaceuticals, 2023 Hypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme.
Hamza Ali Khan +11 more
doaj +1 more source
Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant [PDF]
J Cosmet DermatolJournal of Cosmetic Dermatology, Volume 24, Issue 8, August 2025.
Cui C, Chen X, Zhang Y, Ma J, Wei A.
europepmc +2 more sources
Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]
Clin Case RepABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S +4 more
europepmc +2 more sources
Hypotrichosis with keratosis pilaris: a case report and review of literature
Al-Azhar Assiut Medical Journal, 2017 Hypotrichosis or sparse hair is a relatively common feature of several hereditary syndromes. Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology.
Ayman M Mahran +3 more
doaj +1 more source
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
Molecular Genetics & Genomic Medicine, 2021 Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P‐cadherin. Here, we report two Japanese sibling patients with HJMD.
Takaaki Hayashi +7 more
doaj +1 more source
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype [PDF]
, 2013 PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
A Borriello +60 more
core +6 more sources
Histopathology of Hypotrichosis in Calves [PDF]
Australian Journal of Biological Sciences, 1967 The histopathology of the skin in hypotrichosis has been studied for a Jersey calf and comparisons made with normal skin. Other abnormalities of the hair follicle have been described in a Hereford mutant.
A V, Schleger +2 more
openaire +2 more sources
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. [PDF]
, 2013 One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts.
Alhaddad, Hasan +6 more
core +1 more source
Chromosomal assignment of the ovine hairless (hr) gene by fluorescence in situ hybridization. [PDF]
, 2008 Congenital hypotrichosis in mammalian species consists of partial or complete absence of a hair coat at birth. Affected individuals having a partial hair coat at birth may loose it subsequently.The aim of this paper was to physically map the ovine hr
Budelli E +6 more
core +1 more source
X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
Animals, 2021 X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a
Donal O’Toole +7 more
doaj +1 more source