Sanchis-Borja M, Pastré J, Mercier S, Juvin K, Benattia A, Israël-Biet D
Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France.
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.
Rev Mal Respir. 2018 Nov;35(9):968-973. doi: 10.1016/j.rmr.2018.09.002. Epub 2018 Oct 16.
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.
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.
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.
遗传性纤维化性皮肤异色症伴肌腱挛缩、肌病和肺纤维化（POIKTMP）是一种最近才被描述的、极为罕见的遗传性皮肤异色症。它由FAM111B基因突变引起。呼吸系统受累情况此前从未得到充分描述，但通常表现为限制性呼吸模式。我们在此报告一例与POIKTMP相关的肺纤维化病例，并描述其临床、功能、影像学及病情演变特征。
一名38岁患者自幼被诊断患有皮肤异色症，因呼吸困难前来就诊。初始评估显示为弥漫性、纤维化性间质性肺炎，以上叶为主，影像学检查显示伴有严重肌肉受累，但在疾病演变过程中仍处于亚临床状态。肺功能损害严重，肺纤维化迅速恶化并急性加重，在随访21个月后死亡。
本病例说明了与POIKTMP相关的纤维化性肺部受累情况，并证实了其极端严重性。该病仅见于成年人，在一段可变时间后普遍致命。它强调了在确诊POIKTMP后立即进行系统筛查以建立专门呼吸管理的必要性。
