Results 31 to 40 of about 5,312 (215)

Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity [PDF]

Clinical, Cosmetic and Investigational Dermatology
Ahmed H Nouh,1 Fatma M Elgendy,2 Fatma A Gobran,3 Maryna S Zhuravlova4 1Al-Azhar University, Faculty of Medicine, Department of Dermatology, Venereology and Andrology, Cairo, Egypt; 2Ain Shams university, Faculty of medicine, Department of Pathology ...
Nouh AH, Elgendy FM, Gobran FA, Zhuravlova MS   +3 more
doaj   +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

Prosthodontic management of anhidrotic ectodermal dysplasia

Indian Journal of Dental Research, 2011
Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
doaj   +1 more source

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.

PLoS Genetics, 2020
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure   +18 more
doaj   +1 more source

Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay [PDF]

Pesquisa Veterinária Brasileira, 2023
: Hypotrichosis congenita is a significant disease in Hereford cattle in Uruguay and has been reported worldwide. However, the causal mutation KRT71 has only been recently identified.
Agustín Romero-Benavente, Carolina Briano-Rodriguez, Fernando Dutra-Quintela   +2 more
doaj   +1 more source

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

Advances of Congenital Alopecia/Hypotrichosis in Genetics Research

罕见病研究, 2023
Congenital alopecia/hypotrichosis is a rare group of monogenic genetic hair disorders characterized by congenital limited or diffuse hair loss and scarcity, without any effective treatment.
CUI Can, CHEN Xi, WEI Aihua
doaj   +1 more source

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Orodental findings in Hallermann-Streiff syndrome

Indian Journal of Dental Research, 2012
Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital ...
Shilpa Parikh, Swati Gupta
doaj   +1 more source

Dental Management of Hypohydrotic Ectodermal Dysplasia: A Case Report [PDF]

Journal of Mashhad Dental School, 2020
Introduction: Ectodermal dysplasia is a genetic rare disease, consisting of a group of abnormalities which are the results of the abnormal development of two or more embryonic ectoderm derivatives, such as the skin, hair, nail, sweat gland, tooth, and ...
Koorosh teymoornezhad, khashayar sanjari, Hosna ebrahimi zadeh   +2 more
doaj   +1 more source