A case of familial Flegel's disease caused by a novel splicing variant in SPTLC1.
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DOI: 10.1093/ced/llad061
Abstract: Flegel’s disease 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… read more here.
Keywords: flegel disease; sptlc1; caused novel; case ... See more keywords