A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.

Abstract

Flegel disease (also known as hyperkeratosis lenticular perstans, HLP) is a rare keratinization disorder characterized by multiple asymptomatic papules predominantly distributed on the distal extremities. Very recently, variants in SPTLC1, which encodes serine palmitoyltransferase, long chain base subunit-1 (SPTLC1), have been demonstrated to cause HLP. Herein, we report a patient with familial HLP caused by a novel variant in SPTLC1.