473 The role of lanosterol synthase in patients with congenital hypotrichosis

Hypotrichosis Simplex (HS) is a monogenic hair loss disorder that presents with childhood onset of diffuse and progressive scalp/body loss. Literature has identified mutations cause autosomal-dominant autosomal-recessive forms this disorder. We present rare case hypotrichosis simplex in patient mutation lanosterol synthase (LSS). In our case, 13-year-old Caucasian female presented to the clinic pronounced scalp alopecia thinning eyebrows since birth. She had no rash, visual deficits, nail or teeth abnormalities, other history illness. also family similar Upon exam, >90% was noted, short coarse hairs minimally scattered. Eyebrows showed 50% decrease density. Genetic testing revealed variants unknown significance LSS gene, specifically, exons 6 9 out total 23 exons. Microscopy follicles tapering hypopigmentation distal shaft. Mutations gene can result ocular such as congenital cataracts, or, hypotrichosis.The clinical phenotypes seem manifest aberrant and/or reduced expression LSS. nearer N-terminus hypotrichosis, while those closer C-terminus are primarily associated eye lens defect. setting been described previously few patients an additional example unusual condition.