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

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

Research output: Contribution to journalArticle

Abstract

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)
JournalPediatric Dermatology
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Desmoplakins
Alopecia
Nails
Exons
Skin
Mutation
Palmoplantar Keratoderma
Epidermolysis Bullosa
Hair
Phenotype
Genes

Keywords

  • Acral
  • Alopecia
  • Desmoplakin
  • DSP
  • Herpes simplex virus
  • Hyperkeratosis
  • Keratoderma
  • Nail
  • Palmoplantar
  • Recurrent
  • Skin fragility

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy. / Bari, Omar; Skillman, Sarah; Lah, Melissa D.; Haggstrom, Anita.

In: Pediatric Dermatology, 01.01.2018.

Research output: Contribution to journalArticle

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