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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… Click to show full 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 to cause HLP. Herein, we report a familial case of HLP cases caused by a novel variant in SPTLC1.
Keywords:
flegel disease;
sptlc1;
caused novel;
case;
variant sptlc1
Journal Title: Clinical and experimental dermatology
Year Published: 2023
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Journal Title: Clinical and experimental dermatology
Year Published: 2023
Link to full text (if available)
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recommendations!