Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.

Journal Article

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.

Full Text

Duke Authors

Cited Authors

  • Vicente, LP; Finzi, S; Susanna, R; Young, TL

Published Date

  • January 2017

Published In

Volume / Issue

  • 80 / 1

Start / End Page

  • 49 - 51

PubMed ID

  • 28380103

Electronic International Standard Serial Number (EISSN)

  • 1678-2925

Digital Object Identifier (DOI)

  • 10.5935/0004-2749.20170013


  • eng

Conference Location

  • Brazil