Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study

This case report described an 11-year-old Iranian boy with hypotrichosis with juvenile macular dystrophy, a rare autosomal recessive disorder. The boy exhibited sparse scalp hair, a missing left index fingernail, and later developed macular pigmentary changes. Genetic analysis identified a novel homozygous mutation in the CDH3 gene at exon 6 (640A>T), which resulted in a premature stop codon affecting P-cadherin synthesis. This mutation contributed to the hair follicle abnormalities and progressive retinal degeneration characteristic of the disorder.