Two Females With Hair Loss

July 2019 in “ Journal der Deutschen Dermatologischen Gesellschaft ”

Matthias A. Hermasch, Michael P. Schön, Regina C. Betz, Jorge Frank

hair loss sparse eyebrows absent eyelashes scalp hair loss Marie Unna hereditary hypotrichosis MUHH autosomal dominant hair disorder U2HR gene coarse wiry hair axillary hair loss pubic hair loss genetic defect molecular genetic testing mutation wigs genetic testing

TLDR A mother and daughter have a rare genetic hair loss disorder with no effective treatment.

Two females, a 48-year-old mother and her 16-year-old daughter, presented with hair loss, characterized by sparse or absent eyebrows and eyelashes, and progressive scalp hair loss starting at puberty. Both were diagnosed with Marie Unna hereditary hypotrichosis (MUHH), a rare autosomal dominant hair disorder caused by a genetic defect in the U2HR gene. The condition leads to coarse, wiry hair that becomes sparse over time, particularly in the axillary and pubic regions. Molecular genetic testing confirmed a previously undescribed mutation in the U2HR gene. There is currently no effective treatment for MUHH, and affected individuals often resort to wearing wigs.