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

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.