1. A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.
- Author
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Xue, Ruzeng, Cheng, Qing, Li, Ming, Peng, Sha, Liang, Lina, Lin, Mao-ying, Wang, Huijun, and Lin, Zhimiao
- Subjects
GENETIC disorders ,INFORMED consent (Medical law) ,GENETIC variation ,AMYOTROPHIC lateral sclerosis ,LITERATURE reviews - Abstract
Diagnosis of HLP relies on its characteristic histopathological features including compact hyperkeratosis and epidermis atrophy with band-like lymphocytic infiltration in the superficial dermis.[1] HLP usually develops late in life, typically in the fourth or fifth decade. Https://doi.org/10.1093/ced/llad061 Dear Editor, 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. [Extracted from the article]
- Published
- 2023
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