In:
Clinical and Experimental Dermatology, Oxford University Press (OUP), Vol. 48, No. 6 ( 2023-06-05), p. 693-695
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.
Type of Medium:
Online Resource
ISSN:
0307-6938
,
1365-2230
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2023
detail.hit.zdb_id:
2004506-2
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