Results 21 to 30 of about 5,635 (205)

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 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

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

Animals, 2021
X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a
Donal O’Toole, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller, Tosso Leeb   +7 more
doaj   +1 more source

Clinical and genetic aspects of a child with monilethrix and visual rehabilitation

Indian Journal of Ophthalmology. Case Reports, 2022
Monilethrix is a rare genodermatosis, presented to us with predominant ocular manifestations. The affected proband was typically characterized by severe photophobia, defective vision, and hypotrichosis with brittle and stubby hair. Here, we report a rare
Monisha Mohan, Shashikant Shetty, Vijayalakshmi Perumalsamy, C Prakash, Periasamy Sundaresan   +4 more
doaj   +1 more source

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

Molecular Genetics & Genomic Medicine, 2022
Background Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes ...
Cheng Zhou, Pei Wang, Dingquan Yang, Wenjun Liao, Qing Guo, Jiacheng Li, Guangdong Wen, Shuying Zheng, Xue Zhang, Rongrong Wang, Jianzhong Zhang   +10 more
doaj   +1 more source

Hypotrichosis with juvenile macular dystrophy: Portuguese case [PDF]

, 2016
Hypotrichosis with juvenile macular dystrophy is a rare congenital disease mainly found in the Druze population of Northern Israel. This disorder is caused by the CDH3 mutation encoding P-cadherin, which is expressed in retinal pigment epithelium and ...
Cordoliani, Florance, Elfatoiki, Fatima zahra, Pascal Regane, Pascal, Afforitit-Demoge, Aude   +3 more
core   +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

Christ siemens touraine syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari, Manuja Varghese, V P Kannan   +2 more
doaj   +1 more source

Minoxidil a Youth Elixir for Eyebrow Hypotrichosis [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Eyebrows being prominent feature of the face contributes majorily for aesthetics. Eyebrow hypotrichosis means the reduction or absence of the eyebrow hair. This is associated with negative self-esteem. Minoxidil has been found to act at the
Varsha Gajbhiye, Yeshwant Lamture
doaj   +1 more source