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

The case report described a rare autosomal recessive disorder, hypotrichosis with juvenile macular dystrophy, characterized by sparse scalp hair and progressive retinal degeneration. The study focused on an 11-year-old Iranian boy with a missing left index fingernail and sparse scalp hair, who later showed macular pigmentary changes. Genetic testing identified a novel homozygous mutation in the CDH3 gene, specifically an in-frame mutation at exon 6 (640A>T), which resulted in a premature stop codon affecting P-cadherin synthesis. This mutation was linked to the disorder's symptoms, highlighting the role of CDH3 gene mutations in ectodermal dysplasia, ectrodactyly, and macular dystrophy.