Odd-Looking Hair and Progressive Alopecia in Mother and Son
May 2014
in “
JAMA Dermatology
”
diffuse hair loss bilateral frontoparietal recession diffuse alopecia focal hair loss pebbly scalp surface structural abnormalities scalp biopsy reduction in mature hair follicles Marie Unna hereditary hypotrichosis autosomal dominant nonsyndromic alopecia coarse wiry hair sparse body hair U2HR gene mutation hair loss alopecia genetic mutation
TLDR Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
The document describes a case of a mother and her son who both presented with unusual hair characteristics and progressive hair loss. The mother experienced diffuse hair loss for years, with her hair being sparse in early childhood but later growing coarse. She had pronounced bilateral frontoparietal recession and diffuse alopecia on the crown and vertex. Her son had normal hair at birth, which became wiry and stood out from his head in early childhood. At age 28, he developed focal hair loss with a pebbly scalp surface. Light microscopy of their scalp hair revealed structural abnormalities, and scalp biopsy showed a reduction in mature hair follicles. The diagnosis was Marie Unna hereditary hypotrichosis (MUHH), a rare autosomal dominant type of nonsyndromic alopecia characterized by coarse, wiry hair in early childhood, progressive scalp hair loss beginning around puberty, and sparse body hair. The diagnosis was confirmed by identifying a heterozygous mutation in the U2HR gene. There is no effective treatment for this condition.
