Results 181 to 190 of about 8,285 (255)

Sparse Hair, Missing Teeth, Dry Skin: An Uncommon but Classic Condition.

Indian J Dermatol
Konda D, Reddy M.
europepmc   +1 more source

Hyperpigmented Flexural Plaques, Hypohidrosis, and Hypotrichosis

Cutis, 2023
A 61-year-old woman with a history of hypohidro-sis and deafness presented with a pruritic rash on the neck and antecubital fossae of several years’ duration. Prior treatment with topical corticosteroids failed to resolve the rash.
India A, Loyd, Amanda S, Weissman, Jarad, Levin   +2 more
openaire   +3 more sources

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Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene

Pediatric dermatology, 2023
To date, more than 15 genes have been linked to syndromic and non‐syndromic hypotrichosis, among which the LSS gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis.
Joelle El Hakim, C. Mehawej, E. Chouery, A. Mégarbané, Jinia El-Feghaly, Jinane El Khoury   +5 more
semanticscholar   +1 more source

Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis

Pediatric dermatology, 2023
Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of
Tatjana Braun, Maria Wehner, Anne Teichler, R. Betz, P. Hoeger   +4 more
semanticscholar   +1 more source

The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review

American Journal of Medical Genetics, Part A, 2020
The objective of this study was to review the published literature on X‐linked hypohidrotic ectodermal dysplasia (XLHED) for the prevalence and characteristics of three features of XLHED: hypodontia, hypohidrosis, and hypotrichosis.
Erin P Carmany
exaly   +2 more sources

Loss‐of‐function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis

Clinical Genetics, 2022
Cystatin M/E (encoded by the CST6 gene) is a cysteine protease inhibitor, that exerts regulatory and protective effects against uncontrolled proteolysis mainly by directly regulating cathepsin V, cathepsin L, and legumain activities.
Xuan Wang, Jun Liu, Junyi Chen, Xueyan Xu, Yadan Zhong, Yingping Xu, P. Lu, Jiajian Zhou, Zhimiao Lin, Bin Yang, Chao Yang   +10 more
semanticscholar   +1 more source

Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations

Journal of Cosmetic Dermatology, 2022
Mutation in the lipase H (LIPH) gene is a main reason for autosomal recessive woolly hair (ARWH)/hypotrichosis. Although some studies reported that topical minoxidil could improve ARWH, an effective treatment method for this disease is still lacking.
Baoquan Qu, Shengnan Meng, Chao Yang, Shuying Lv, Wenjun Lin, Dingquan Yang   +5 more
semanticscholar   +1 more source

A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility

Skin Appendage Disorders, 2022
Introduction: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a disease characterized by the failure of angiogenesis, vascularization, and hair formation caused by a mutation in the SOX18 gene. Case Presentation: We report a 15-year-old female
G. Atış, Ayşenur Şam Sarı, E. Soylu, Özlem Akgün Doğan   +3 more
semanticscholar   +1 more source