Results 11 to 20 of about 7,293 (261)

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

Pediatr Dermatol
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.
Holm SØ, Graversen L, Simonsen AKW, Blechingberg J, Herlin LK, Rønholt K.   +5 more
europepmc   +4 more sources

Bimatoprost in the treatment of eyelash hypotrichosis

Clinical Ophthalmology, 2010
Simon K LawJules Stein Eye Institute, University of California, Los Angeles, California, USAAbstract: Eyelashes hypotrichosis is a condition indicated by an inadequate amount of eyelashes.
Simon K Law
doaj   +3 more sources

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 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

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

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

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

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.
Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kaili Zhou, Anqi Zhao, Qiaoyu Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li   +15 more
doaj   +2 more sources

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source