Work

Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review

Year: 2025

Type: article

Abstract: Introduction: Desmoplakin is constitutive component of desmosome which plays a critical part in keratinocyte adhesion. Skin fragility-woolly hair syndrome (SFWHS) is a very rare autosomal recessive disorder caused by variants in desmoplakin (DSP). Case Presentation: Herein, we described a 2-year-old Chinese boy who presented with palmoplantar keratoderma, short curly hair, and thickening of nails since birth. Histopathological examination showed hyperkeratosis, acanthosis, hypergranulosis, and prominent intercellular fissures. Two heterozygous variants in exon 24 of DSP, c.7642C>T (p.R2548X) and c.6449delC (p.R2151Gfs*3), were identified by whole-exome sequencing and further proven to be a novel compound heterozygous variant by Sanger sequencing. Both variants have not been identified and reported previously. Conclusion: To the best of our knowledge, this is the second case of SFWHS with compound heterozygous variants in a Chinese population. This case adds new variant spectrum in DSP of SFWHS and highlights the need for genetic testing understanding in patients with characteristic cutaneous findings.

Source: Case Reports in Dermatology

DOI: 10.1159/000548001

Authors: Miao Yang, Guiying Zhang, Shuaihantian Luo

Institution: Second Xiangya Hospital of Central South University

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,030