A novel LSS variant leading to hypotrichosis with pseudoainhum
Lili Wang and Jingya Zhang contributed equally to this work.
Abstract
Congenital alopecia/hypotrichosis constitutes a spectrum of rare inherited hair disorders characterized by partial to complete alopecia and possible structural hair shaft defects. The lanosterol synthase (LSS) gene, implicated in cholesterol biosynthesis, has emerged as a novel genetic determinant of congenital hypotrichosis. This article describes a 43-year-old female with congenital lanugo-like scalp hair and absence of eyebrows who later developed painful fibrotic constrictive bands on her fingers, culminating in pseudoainhum, but without manifestations of typical palmoplantar keratoderma (PPK). Whole-exome sequencing detected a novel homozygous variant (c.508G>A; p. Asp170Asn) in the LSS gene. This case delineates an atypical LSS variant presentation associated with pseudoainhum phenotype, manifesting without classic PPK features, a previously unreported phenotypic combination. Our findings expand the phenotypic spectrum of LSS-related disorders and underscore the potential role of lipid signaling in hair follicle biology and the pseudoainhum phenomenon.
CONFLICT OF INTEREST STATEMENT
The authors declare no conflict of interests for this article.
