Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report

May 2018 in “ European Journal of Dermatology ”

Yurika Masuda, Taisuke Ito, Yutaka Shimomura, Masaaki Ogai, Jun‐ichi Sakabe, Y. Tokura

Marie Unna hereditary hypotrichosis MUHH hair loss heterozygous missense mutation U2HR gene androgenetic alopecia alopecia areata universalis alopecia totalis hereditary hair loss genetic hair loss sparse hair sparse eyebrows

TLDR The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.

The document detailed the clinical progression of Marie Unna hereditary hypotrichosis (MUHH) in the first Japanese family diagnosed with the condition, focusing on a female patient who exhibited hair loss at age two but showed improvement by age seven. The patient and her father both had a heterozygous missense mutation, c.38G>T (p.Arg13Leu), in the U2HR gene. The father had mildly sparse hair and eyebrows. This case highlighted the potential for misdiagnosis of MUHH as androgenetic alopecia or alopecia areata universalis/totalis, underscoring the importance of considering MUHH in differential diagnoses. The study provided the first long-term follow-up of a Japanese patient with MUHH and noted an improvement in hair condition during childhood without reporting any financial support or conflicts of interest.