Hypotrichosis with juvenile macular dystrophy: Portuguese case.
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.
Université Paris Diderot, Sorbonne Paris Cité, AP-HP, Service de Dermatologie, Hôpital Saint Louis, Paris, France. Fatiza59@hotmail.fr.
Fatima Zahra
FZ
Elfatoiki
Florance
F
Cordoliani
Pascal
P
Pascal Regane
Aude
A
Afforitit-Demoge
D002648:Child; D003241:Consanguinity; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007039:Hypotrichosis / Q000151:congenital* / Q000175:diagnosis; D008268:Macular Degeneration / Q000175:diagnosis*; D011174:Portugal