M Sanchis-Borja1, J Pastré2, S Mercier3, K Juvin1, A Benattia4, D Israël-Biet4. 1. Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France. 2. Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75270 Paris, France. Electronic address: jean.pastre@aphp.fr. 3. Service de génétique médicale, CHU et université de Nantes, 44000 Nantes, France; Inserm UMR 1089, Nantes, France. 4. Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75270 Paris, France.
Abstract
INTRODUCTION: Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently described, extremely rare, entity belonging to the spectrum of inherited poikilodermas. It is provoked by a mutation of the FAM111B gene. Respiratory involvement has never been fully described but usually involves a restrictive respiratory pattern. We present here a case of pulmonary fibrosis associated with POIKTMP and describe the clinical, functional, radiological and evolutionary characteristics. OBSERVATION: A 38 year-old patient with poikiloderma diagnosed in childhood was referred on account of dyspnoea. Initial evaluation showed a diffuse, fibrosing, interstitial pneumonitis with upper lobe predominance, associated with severe muscular involvement on imaging that remained sub-clinical during the evolution of the disease. Lung function impairment was severe and a rapid worsening of the pulmonary fibrosis and an acute exacerbation led to death after a follow-up of 21 months. CONCLUSION: This case illustrates the fibrosing pulmonary involvement associated with POIKTMP and confirms its extreme severity. It is found only in adults and is universally fatal after a variable time. It highlights the necessity for a systematic screening as soon as the diagnosis of POIKTMP is confirmed in order to establish specialised respiratory management.
INTRODUCTION:Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently described, extremely rare, entity belonging to the spectrum of inherited poikilodermas. It is provoked by a mutation of the FAM111B gene. Respiratory involvement has never been fully described but usually involves a restrictive respiratory pattern. We present here a case of pulmonary fibrosis associated with POIKTMP and describe the clinical, functional, radiological and evolutionary characteristics. OBSERVATION: A 38 year-old patient with poikiloderma diagnosed in childhood was referred on account of dyspnoea. Initial evaluation showed a diffuse, fibrosing, interstitial pneumonitis with upper lobe predominance, associated with severe muscular involvement on imaging that remained sub-clinical during the evolution of the disease. Lung function impairment was severe and a rapid worsening of the pulmonary fibrosis and an acute exacerbation led to death after a follow-up of 21 months. CONCLUSION: This case illustrates the fibrosing pulmonary involvement associated with POIKTMP and confirms its extreme severity. It is found only in adults and is universally fatal after a variable time. It highlights the necessity for a systematic screening as soon as the diagnosis of POIKTMP is confirmed in order to establish specialised respiratory management.