Abstract：
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in FAM111B. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype-phenotype correlation. POIKTMP is characterized by marked age-dependent clinical expressivity. FAM111B encodes a catalytic nuclear protein, expressed in many tissues, which contributes to impaired DNA repair affecting multiple systems. Specific inhibition of catalytic activity might be a future strategy to halt progression of this otherwise untreatable disease. Given the relentless progression of the disease, it would make sense to start such treatment as early as possible. In order to achieve this objective, children with suspected POIKTMP should therefore undergo early imaging of all relevant organ systems.
摘要：
遗传性纤维化性真皮病伴肌腱挛缩，肌病,肺纤维化（POIKTMP）是一种由FAM111B突变引起的常染色体显性遗传的遗传性皮肤病。我们报告了另一例具有新致病变异的病例，并分析了所有先前发表的34例病例，重点是临床表现序列和基因型-表型相关性。POIKTMP的特征在于显著的年龄依赖性临床表达能力。FAM111B编码催化核蛋白，在许多组织中表达，这有助于受损的DNA修复影响多个系统。催化活性的特异性抑制可能是阻止这种否则无法治疗的疾病进展的未来策略。鉴于疾病的不断发展，尽早开始这种治疗是有意义的。为了实现这一目标,因此,疑似POIKTMP的儿童应进行所有相关器官系统的早期成像.
