Results 11 to 20 of about 5,312 (215)

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype [PDF]

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +2 more sources

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF [PDF]

Pediatric Dermatology, Volume 42, Issue 6, Page 1265-1269, November/December 2025.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt   +5 more
wiley   +2 more sources

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review [PDF]

Human Genomics
Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene.
Yujing Zhang, Mengxi Zhao, Xiangqian Li, Yongping Zhao, Yijie Sun, Jianzhong Zhang, Cong Yu, Cheng Zhou   +7 more
doaj   +2 more sources

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree [PDF]

Frontiers in Genetics
Autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare inherited hair disease. In this study, we report a 31-year-old Chinese female with the characteristic clinical features of woolly hair and hypotrichosis. Through whole-exome sequencing (WES),
Xinyue Zhang, Kexin Guo, Kexin Guo, Jiawei Liu, Xueting Yang, Rui Zhang, Rongrong Wang, Donglai Ma, Xue Zhang   +8 more
doaj   +2 more sources

Pioneers in Dermatology and Venereology: An interview with Professor Eli Sprecher [PDF]

J Eur Acad Dermatol Venereol
Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 732-735, May 2026.
Eli Sprecher
wiley   +2 more sources

CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy [PDF]

Cureus
Enam Danish, Rola Alsulami, Hamza Baeshen   +2 more
openalex   +2 more sources

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report [PDF]

Dermatol Reports
Khalid Alwunais, Jamal Alqahtani, Abdullah Ali N Aljalfan, Hind Alotaibi   +3 more
openalex   +3 more sources

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

International Journal of Dermatology and Venerology, 2021
. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach ...
Sirous Zeinali, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamideh Bagherian, Jouni Uitto   +6 more
doaj   +1 more source

A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China

Frontiers in Physiology, 2023
Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4.
Bei Zhao, Bei Zhao, Yisi Tang, Wenjing Chen, Huiying Wan, Huiying Wan, Jiyun Yang, Xuejun Chen, Xuejun Chen   +8 more
doaj   +1 more source

Successful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2%

Journal of Dermatological Treatment, 2023
Background: Hereditary hypotrichosis simplex is a rare genetic hair disease that affects the scalp. Failure to grow normal hair in terms of length and density is the main complaint of patients.
Wafaa M. Ramadan, Arwa M. Hassan, Esraa E. El-Hawary, Nesrin S. Gomaa   +3 more
doaj   +1 more source