Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity

Area of Science:

• Dermatology
• Genetics
• Trichology

Background:

• Marie-Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder.
• It is characterized by a distinct pattern of congenital hair loss, often resembling androgenetic alopecia later in life.

Observation:

• This case series details two unrelated Egyptian families with MUHH.
• Patients presented with recalcitrant alopecia, pili torti, and yellow dots on dermoscopy.
• Genetic analysis revealed heterozygous pathogenic variants in the HRURF gene.

Findings:

• The HRURF gene is implicated in autosomal dominant MUHH.
• This represents the first reported case series of MUHH from Egypt.
• Dermoscopic findings of pili torti and yellow dots are associated with HRURF variants.

Implications:

• Further research into MUHH pathophysiology, including histopathology and dermoscopy, is crucial.
• Correlating specific HRURF mutations with clinical phenotypes may guide treatment strategies.
• Understanding the genetic basis of MUHH can lead to more effective therapeutic options.