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.

中文翻译：

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遗传性纤维化皮肤异色症（POIKTMP 综合征）一种新突变的报告及文献复习

遗传性纤维化皮肤异色伴肌腱挛缩、肌病和肺纤维化 (POIKTMP) 是一种由FAM111B突变引起的常染色体显性遗传性皮肤病。我们报告了另一例具有新致病性变异的病例，并分析了之前发表的所有 34 例病例，重点是临床表现的顺序和基因型-表型相关性。POIKTMP 的特点是显着的年龄依赖性临床表现。FAM111B编码催化核蛋白，在许多组织中表达，这有助于影响多个系统的受损 DNA 修复。催化活性的特异性抑制可能是未来阻止这种无法治愈的疾病进展的策略。鉴于疾病的无情进展，尽早开始这种治疗是有意义的。因此，为了实现这一目标，疑似 POIKTMP 的儿童应该接受所有相关器官系统的早期成像。