Data Sheet 1_Case Report: Marked intrafamilial variability and recurrent fever-associated alopecia in SREBF1-associated hereditary mucoepithelial dysplasia.pdf

We report a 5-year-old boy with recurrent non-scarring alopecia beginning at 18 months of age, together with blepharokeratoconjunctivitis, dry eye, corneal ulceration, recurrent oral ulcers, and nail pitting. Hair loss repeatedly worsened during or shortly after febrile episodes, most prominently in the occipital scalp, and was followed by gradual regrowth.

Clinical exome sequencing identified a heterozygous SREBF1 NM_004176.5:c.1580G>A (p.Arg527His) variant. His father carried the same variant but had a much milder phenotype, with childhood-onset occipital and temporal alopecia and mild ocular symptoms. The variant was not detected in his clinically unaffected sister.