Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy

Omar Bari, Sarah Skillman, Melissa D. Lah, Anita N. Haggstrom

Research output: Contribution to journalArticle


Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar keratoderma, and areas of follicular hyperkeratosis. He was found to have two heterozygous mutations in the desmoplakin gene: c.478 C>T in exon 4 (p.Arg160X) and c.3630T>A in exon 23 (Tyr1210X). This case expands the clinical spectrum associated with desmoplakin mutations and highlights a mutation in exon 23 that has not been previously reported in the literature.

Original languageEnglish (US)
Pages (from-to)e218-e220
JournalPediatric Dermatology
Issue number4
StatePublished - Jul 1 2018



  • DSP
  • acral
  • alopecia
  • desmoplakin
  • herpes simplex virus
  • hyperkeratosis
  • keratoderma
  • nail
  • palmoplantar
  • recurrent
  • skin fragility

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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