Atypical form of transient reactive papulotranslucent acrokeratoderma in a cystic fibrosis carrier

J Cutan Pathol. 2013 Apr;40(4):413-8. doi: 10.1111/cup.12087. Epub 2013 Feb 5.

Abstract

We report the first documented case of an atypical form of transient reactive papulotranslucent acrokeratoderma (TRPA) in a patient heterozygous for the ΔF508 CFTR(cystic fibrosis transmembrane conductance regulator) mutation. TRPA represents a condition that classically presents with translucent to white plaques that become evident after water exposure. An atypical form with persistent lesions has also been described. Our patient is a 16-year-old girl with small, white papules coalescing into pebbly plaques on the palms. This condition is exacerbated after 5-10 min of water exposure and is associated with discomfort. The skin biopsy showed expanded stratum corneum, orthohyperkeratosis and dilation of eccrine ducts consisting with TRPA. A cystic fibrosis carrier state, barrier function defect, hyperhidrosis and the intake of cyclooxygenase inhibitors may have been pathogenic factors in our patient.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Epidermis / pathology*
  • Female
  • Hand
  • Heterozygote
  • Humans
  • Keratoderma, Palmoplantar / etiology*
  • Keratoderma, Palmoplantar / genetics
  • Keratoderma, Palmoplantar / pathology
  • Mutation
  • Skin / pathology

Substances

  • cystic fibrosis transmembrane conductance regulator delta F508
  • Cystic Fibrosis Transmembrane Conductance Regulator