Results 191 to 200 of about 8,285 (255)

The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report

Ophthalmic Genetics, 2022
Background Pathogenic variants in the Cadherin 3 (CDH3) gene are responsible for the occurrence of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEMS), both of which are rare ...
Khalid Al Zubi, Nesrin Mwafi, H. M. Alrawashdeh, Fawaz Al Sarireh, Areej Somkuwar, D. Abdulmannan   +5 more
semanticscholar   +1 more source

Hereditary Hypotrichosis simplex

Dermatology, 1998
Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS), is especially uncommon. We present a Spanish family with 8 of 19 persons covering 4 generations affected by HHS. No associated ectodermal or other defects were noted.
M, Just, M, Ribera, M J, Fuente, I, Bielsa, C, Ferrándiz   +4 more
openaire   +2 more sources

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies

Journal of the European Academy of Dermatology and Venereology, 2021
Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare hereditary hair disease characterized by tightly curled sparse hair at birth or in early infancy. Patients with ARWH consist of genetically heterogeneous groups.
M. Akiyama
semanticscholar   +1 more source

Hereditary hypotrichosis

British Journal of Dermatology, 2006
A syndrome of hereditary hypotrichosis with an unusual natural history and clinical features was encountered in a Caucasian family of four generations with a total of twenty-four members of whom eleven were affected. The mode of inheritance was autosomal dominant with variable penetrance.
B, Bentley-Phillips, H J, Grace
openaire   +2 more sources

Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum

American Journal of Medical Genetics. Part A, 2021
Hypotrichosis‐lymphedema‐telangiectasia syndrome (HLTS) is a rare condition caused by pathogenic variants in the SOX18 gene. SOX18 plays a key role in angio‐ and lymphangiogenesis due to its expression in venous endothelial cells from which the lymphatic
Richard Coulie, D. Niyazov, M. Gambello, E. Fastré, P. Brouillard, M. Vikkula   +5 more
semanticscholar   +1 more source

Congenital atrichia and hypotrichosis

World Journal of Pediatrics, 2011
Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with ...
Antoni, Bennàssar, Juan, Ferrando, Ramon, Grimalt   +2 more
openaire   +2 more sources

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

American Journal of Medical Genetics. Part A, 2021
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University, Tbilisi, Georgia Cologne Center for Genomics, University of ...
N. Cesarato, Maria Wehner, Mariam Ghughunishvili, A. Schmidt, Daisy Axt, H. Thiele, M. Lentze, C. Has, M. Geyer, F. B. Basmanav, R. Betz   +10 more
semanticscholar   +1 more source

The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy

Skin Appendage Disorders
Introduction: Ectodermal dysplasias (ED) encompass a broad group of hereditary disorders, within which both the structure and functionality of various ectoderm-derived tissues can be affected depending on the involved gene.
Luis Eduardo Prieto, D. Vasquez-Forero, Harry Pachajoa   +2 more
semanticscholar   +1 more source

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Journal of dermatology (Print), 2020
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS‐related HS have been reported.
S. Hua, Yu Ding, Jia Zhang, Qiufang Qian, Ming Li   +4 more
semanticscholar   +1 more source

Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene

Journal of dermatology (Print), 2020
It has recently been shown that bi‐allelic mutations in the lanosterol synthase (LSS) gene, which was originally reported as a causative gene for congenital cataracts, underlie a non‐syndromic form of hypotrichosis. Furthermore, it has also been revealed
Mami Murata, R. Hayashi, Y. Kawakami, S. Morizane, Y. Shimomura   +4 more
semanticscholar   +1 more source