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[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report]

M Sanchis-Borja1, J Pastré2, S Mercier3

  • 1Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France.

Revue Des Maladies Respiratoires
|October 21, 2018
PubMed
Abstract

Insights

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) can cause severe, fatal lung disease. Early screening is crucial for managing this rare genetic disorder.

Area of Science:

  • Genetics
  • Pulmonology
  • Dermatology

Background:

  • Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare genetic disorder.
  • POIKTMP is caused by a mutation in the FAM111B gene.
  • Respiratory involvement in POIKTMP, typically restrictive, is not fully characterized.

Observation:

  • A 38-year-old patient with childhood-diagnosed poikiloderma presented with dyspnea.
  • Initial evaluation revealed diffuse fibrosing interstitial pneumonitis with upper lobe predominance.
  • The patient had subclinical severe muscular involvement and severe lung function impairment.

Findings:

  • The patient experienced rapid worsening of pulmonary fibrosis and an acute exacerbation.
  • Death occurred after a 21-month follow-up period.
  • This case confirms the severe fibrosing pulmonary involvement in POIKTMP.

Implications:

  • POIKTMP-associated pulmonary fibrosis is universally fatal in adults.
  • Systematic screening for POIKTMP is necessary upon diagnosis.
  • Early respiratory management in specialized centers is essential for patients with POIKTMP.
Keywords:
FAM111BInherited poikilodermaInterstitial lung diseasePneumopathie infiltrante diffusePoïkilodermie héréditaire sclérosante

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