Skin fragility, hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Abstract

Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his parents. Genomic DNA was extracted from the peripheral blood. Targeted next-generation sequencing for genodermatoses causative genes was performed, followed by filtration out benign variants. Candidate variants were further verified by Sanger sequencing. Results The patient harbored compound heterozygous mutations [c.3805C>T (p.R1269*) and c.7568_7571delAGAC (p.T2524Afs*36)] in the DSP gene, which encodes desmoplakin. A diagnosis of skin fragility-woolly hair syndrome was made. Conclusion Biallelic loss-of-mutations in DSP is probably responsible for the patient’s phenotype.

Keywords

• skin fragility
• alopecia
• pachyonychia
• desmoplakin
• gene mutation