Hypotrichosis with juvenile macular dystrophy: Portuguese case.

Hypotrichosis with juvenile macular dystrophy: Portuguese case. Dermatol Online J. 2016;22(5) Authors: Elfatoiki FZ, Cordoliani F, Pascal Regane P, Afforitit-Demoge A Abstract 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 hair follicles. An 11-year-old girl who was born to related Portuguese parents, had hypotrichosis since birth and macular dystrophy diagnosed at age 5. Fundus examination and fluorescein angiography revealed located macular pigmentary abnormalities. No molecular analysis was done. A fundus examination should be considered mandatory in the assessment of congenital hypotrichosis. PMID: 27617529 [PubMed - as supplied by publisher]
Source: Dermatol Online J - Category: Dermatology Authors: Tags: Dermatol Online J Source Type: research