Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review
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 <i>DSP</i> of SFWHS and highlights the need for genetic testing understanding in patients with characteristic cutaneous findings.
Authors
- Shuaihantian Luo (ORCID: https://orcid.org/0009-0006-2130-1103)
- Miao Yang (ORCID: https://orcid.org/0000-0002-2705-694X)
- Guiying Zhang (ORCID: https://orcid.org/0000-0002-6622-3384)
Institutions
- Central South University (CN)
- Second Xiangya Hospital of Central South University (CN)
Publication Details
- Journal
- Case Reports in Dermatology
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1159/000548001
- Citations
- 1
- Primary Topic
- Synthesis and Characterization of Heterocyclic Compounds
- Type
- article
- Field-Weighted Citation Impact
- 0.94