A Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Alternation in Severity: Deterioration and Improvement with Age
A 3-year-old girl's parents brought her to our department complaining of hair loss and insufficient hair growth. Her delivery had been normal and her development otherwise unremarkable. She had no siblings, and both parents had apparently normal hair. Neither parent reported any family history of consanguinity. Physical examination showed fine, curly hair ranging in length from 3 to 5 cm and distributed uniformly sparsely. Her eyebrows and eyelashes were unaffected (fig. ). Her parents reported that her hair density and growth had been normal at birth (fig. ); however, significant hair loss had developed when she was 3 months old (fig. ) and had gradually reversed somewhat over the next 3 years. Laboratory tests, including thyroid hormone levels and autoantibody titers, showed no significant abnormality. Light microscopy showed hair shaft invaginations (fig. ), and polarized light microscopy revealed a damaged appearance of the hair cortex (fig. ). Scanning electron microscopy showed a partial defect of the medulla and fragile outer cortex of the hair shaft (fig. ). As the hair of both parents appeared normal, we suspected ARWH/H and performed direct sequencing of the LIPH gene on peripheral blood from the patient and her parents after obtaining the family's informed consent. The patient was found to be homozygous and both parents heterozygous for a missense mutation in exon 6 of LIPH (c.736T>A, p.Cys246Ser) (fig. ). Our patient was diagnosed with ARWH/H resulting from a homozygous mutation in LIPH.