Supplementary Material for: Novel compound heterozygous variants of DSP causing skin fragility-woolly hair syndrome: a rare case report and literature review

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. Discussion/Conclusion: To the best of our knowledge, this is the second case of SFWHS with compound heterozygous variants in 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.