Histopathology of hypotrichosis with juvenile macular dystrophy.

Hypotrichosis with juvenile macular dystrophy (HJMD) (MIM 601553) is a rare disorder characterized by the paucity of hair and progressive macular degeneration leading to blindness. We have recently shown that mutations in the CDH3 gene encoding P-cadherin are the proximal cause of HJMD. The present study was performed to establish the histopathology of this disorder.