Open access
Oct 2026
Case Report: Marked intrafamilial variability and recurrent fever-associated alopecia in SREBF1-associated hereditary mucoepithelial dysplasia
SREBF1 -associated hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder involving the hair, skin, mucosa, and eyes. 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, recurr...
Ming-Yuan Xu, Lei Wang, Yong-Long Xu et al.
· Frontiers in Medicine · 0 citations