Histopathology of Hypotrichosis with Juvenile Macular Dystrophy

May 2004 in “ The American Journal of Dermatopathology ”

Reuven Bergman, Marcela Sapir, Eli Sprecher

Hypotrichosis with Juvenile Macular Dystrophy HJMD CDH3 gene R503H mutation hair follicles catagen-telogen hair follicles vellus hair terminal hair P-cadherin anagen phase catagen phase telogen phase sparse hair short hair hair thinning

TLDR The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

The study investigated the histopathology of Hypotrichosis with Juvenile Macular Dystrophy (HJMD), a condition caused by CDH3 gene mutations and characterized by sparse hair and progressive vision loss. Scalp biopsies from 6 patients with a specific homozygous mutation (R503H) in the CDH3 gene showed a low number of hair follicles, ranging from 6 to 14 per section, without inflammation or scarring. There was a notable increase in catagen-telogen hair follicles in five patients and a higher vellus to terminal hair follicle ratio in two patients. The findings suggested that the lack of functional P-cadherin disrupts the hair cycle, leading to shorter anagen phases and prolonged catagen and telogen phases, causing the hair thinning and short hair observed in HJMD.

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