A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene. [PDF]
Mol Genet Genomic Med, 2023 Patients with biallelic variants in the lanosterol synthase (LSS) gene has been reported to exhibit phenotypes as follows: non‐syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However,
Tan Y +5 more
europepmc +2 more sources
Christ siemens touraine syndrome: A rare case report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016 Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari +2 more
doaj +1 more source
Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
doaj +1 more source
Advances of Congenital Alopecia/Hypotrichosis in Genetics Research
罕见病研究, 2023 Congenital alopecia/hypotrichosis is a rare group of monogenic genetic hair disorders characterized by congenital limited or diffuse hair loss and scarcity, without any effective treatment.
CUI Can, CHEN Xi, WEI Aihua
doaj +1 more source
Prosthodontic management of anhidrotic ectodermal dysplasia
Indian Journal of Dental Research, 2011 Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
doaj +1 more source
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
Molecular Genetics & Genomic Medicine, 2022 Background Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes ...
Cheng Zhou +10 more
doaj +1 more source
Acta dermato-venereologica, 1987 A case of naevoid hypotrichosis affecting two symmetrical areas in the parietal regions is described.
J H, Barth, R P, Dawber
openaire +3 more sources
Regenerative Potential of Adipose Tissue-Derived Exosomes in Treating Hair Shaft Abnormalities: A Case Report. [PDF]
Case Rep Dermatol MedHair shaft abnormalities, often linked to genetic or acquired conditions, present significant treatment challenges with limited and inconsistent therapeutic success. This report describes an eight‐year‐old female with severe hair shaft abnormality, unresponsive to standard treatments, including topical minoxidil and platelet‐rich plasma therapy, who ...
Nilforoushzadeh MA +3 more
europepmc +2 more sources
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]
, 1996 6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia +5 more
core +1 more source
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function [PDF]
, 2015 BACKGROUND: Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus.
Bertelsen, Birgitte +6 more
core +4 more sources