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
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    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.
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