학술논문
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.
Document Type
Article
Author
Source
Subject
*GENETIC disorders
*INFORMED consent (Medical law)
*GENETIC variation
*AMYOTROPHIC lateral sclerosis
*LITERATURE reviews
*
*
*
*
Language
ISSN
0307-6938
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]