Cutaneous manifestations of cystic fibrosis

J Am Acad Dermatol. 2024 Sep;91(3):490-498. doi: 10.1016/j.jaad.2024.04.052. Epub 2024 Apr 30.

Abstract

Cystic fibrosis (CF) is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CFTR) gene, and features recurrent sinus and pulmonary infections, steatorrhea, and malnutrition. CF is associated with diverse cutaneous manifestations, including transient reactive papulotranslucent acrokeratoderma of the palms, nutrient deficiency dermatoses, and vasculitis. Rarely these are presenting symptoms of CF, prior to pulmonary or gastrointestinal sequelae. Cutaneous drug eruptions are also highly common in patients with CF (PwCF) given frequent antibiotic exposure. Finally, CFTR modulating therapy, which has revolutionized CF management, is associated with cutaneous side effects ranging from acute urticaria to toxic epidermal necrolysis. Recognition of dermatologic clinical manifestations of CF is important to appropriately care for PwCF. Dermatologists may play a significant role in the diagnosis and management of CF and associated skin complications.

Keywords: CFTR; Cystic fibrosis; adverse events; nutrient deficiency dermatitis; transient reactive papulotranslucent acrokeratoderma of the palm; vasculitis.

Publication types

  • Review

MeSH terms

  • Anti-Bacterial Agents / therapeutic use
  • Cystic Fibrosis Transmembrane Conductance Regulator* / genetics
  • Cystic Fibrosis* / complications
  • Drug Eruptions / diagnosis
  • Drug Eruptions / etiology
  • Humans
  • Skin Diseases / diagnosis
  • Skin Diseases / etiology

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Anti-Bacterial Agents