Results 11 to 20 of about 7,127 (212)

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia [PDF]

American Journal of Human Genetics, 2003
Alexandre Irrthum, Maurice van Steensel, Miikka Vikkula   +2 more
exaly   +2 more sources

Oral minoxidil treatment for hypotrichosis in Lelis syndrome. [PDF]

JAAD Case Rep
Bhanot I, Kunadia A, Bhanot A, Weissman AS, Levin B, McBride J, Levin J.   +6 more
europepmc   +2 more sources

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis. [PDF]

Australas J Dermatol
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
So N, Yip L, Orchard D.
europepmc   +2 more sources

DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case

Вопросы современной педиатрии, 2023
Background. Hypotrichosis is a heritable form of alopecia that causes almost complete scalp hair loss in childhood. The diagnosis is typically established according to medical history and clinical picture.
Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova   +7 more
doaj   +1 more source

Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report. [PDF]

BMC Ophthalmol
Carnovale-Scalzo G, Carnevali A, Piccoli G, Ceravolo D, Bruzzichessi D, Iuliano R, Tallerico R, Gatti V, Giannaccare G, Scorcia V.   +9 more
europepmc   +3 more sources

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT 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, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +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

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

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47-mediated degradation. [PDF]

JCI Insight
Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated.
Wang X, Pan C, Zheng L, Wang J, Zou Q, Sun P, Zhou K, Zhao A, Cao Q, He W, Wang Y, Cheng R, Yao Z, Zhang S, Zhang H, Li M.   +15 more
europepmc   +2 more sources

Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant [PDF]

J Cosmet Dermatol
Journal of Cosmetic Dermatology, Volume 24, Issue 8, August 2025.
Cui C, Chen X, Zhang Y, Ma J, Wei A.
europepmc   +2 more sources