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

January 2017 in “ Arquivos Brasileiros de Oftalmologia ”

Lucas Perez Vicente, Simone Finzi, Remo Susanna Júnior, Terri L. Young

hypotrichosis sparse scalp hair CDH3 gene P-cadherin autosomal recessive disorder

TLDR A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

Hypotrichosis with juvenile macular dystrophy (HJMD) was a rare autosomal recessive disorder characterized by sparse scalp hair and progressive retinal degeneration, often leading to blindness in the second or third decade of life. This case report detailed an 11-year-old Iranian boy with sparse scalp hair and macular pigmentary changes, linked to a novel homozygous mutation in the CDH3 gene, which affected P-cadherin synthesis. The study highlighted the genetic basis of HJMD and its association with ectodermal dysplasia and macular dystrophy. The findings underscored the importance of genetic studies in understanding rare diseases and suggested potential future treatments through stem cell and genetic therapies.

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

5 citations , January 2017 in “Arquivos Brasileiros de Oftalmologia”

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.