Results 11 to 20 of about 4,625 (171)

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports
We report a 5.5‐year‐old Palestinian girl presenting with hypotrichosis of the scalp, eyebrows, and eyelashes; peg‐shaped widely spaced teeth with enamel defects; hypoplastic brittle nails; palmoplantar keratoderma; periorbital wrinkling; and partial ...
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
doaj   +2 more sources

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

Clin Case Rep
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.
Chapagain L, Dahal A, Gupta P, Pudasaini P, Paudel U.   +4 more
europepmc   +2 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

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, B J, Thompson, R W, Hewetson   +2 more
openaire   +2 more sources

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

Oral minoxidil treatment for hypotrichosis in Lelis syndrome [PDF]

JAAD Case Reports
Ishan Bhanot, BS, BA, Anuj Kunadia, MD, Anisha Bhanot, MD, Amanda S. Weissman, MD, Benjamin Levin, BS, Jeffrey McBride, MD, PhD, Jarad Levin, MD   +6 more
doaj   +2 more sources

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, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano   +7 more
doaj   +1 more source

Hypotrichosis with juvenile macular dystrophy [PDF]

International Journal of Trichology, 2018
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin.
Almeida, FT, Carneiro-Freitas, R, Caldas, R, Vieira, AP   +3 more
openaire   +3 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, Aya Y Badran, Asmaa M Ahmad, Mahmoud R Hussein   +3 more
doaj   +1 more source