Keratosis Follicularis Spinulosa Decalvans (KFSD) has been associated with mutations in the MBTPS2 gene.
KFSD is a disorder affecting the skin and eyes. In affected men, the skin findings include inflammatory hyperkeratotic follicular papules or pustules on the scalp, eyebrows and elsewhere on the integument. This process leads to progressive scaring alopecia. Eye findings include photophobia and corneal dystrophy. Other findings include hyperkeratosis of the elbows, knees, and palms and soles. KFSD can be distinguished from IFAP due to the nature of alopecia, which is progressive and scaring in KFSD, and congenital and non-scarring in IFAP. Carrier females are usually less severely affected.