摘要目的:报道1例遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化（POIKTMP）患儿，并复习文献分析该病基因型、表型及两者间关系。方法:报道1例中国汉族POIKTMP患儿的临床表现和基因检测结果。以"FAM111B基因""遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化"或"POIKTMP"为关键词在国内外数据库中检索所有相关文献，统计病例的变异位点、临床表现等，分析该病的基因型、表型特点及两者间关系。结果:患儿女，6岁半，半岁开始发病，皮肤科检查：面颈部见数个片状、网状、条索状棕褐色斑片和点状色素减退斑，形状不规则，以额部、口周为主；面颊部、鼻部毛细血管扩张；四肢、躯干可见色素沉着及色素减退斑；眉毛稀疏、色淡。共检出整理诊断明确且有临床资料的POIKTMP病例39例（包括本例），报道FAM111B基因变异14个，包括1个框内缺失变异及13个错义变异。39例中，皮肤异色/光敏感/面部红斑/毛细血管扩张发生率为100%（39例），毛发稀疏为87.2%（34例），少汗/怕热为82.1%（32例）；皮肤外表现中肌腱痉挛/指端硬化69.2%（27例），转氨酶升高46.2%（18例）、肌痛/肌无力/肌肉萎缩43.6%（17例）。未成年组湿疹样改变、水疱/血疱以及转氨酶升高的出现率显著高于成年组（均 P < 0.05）。 结论:本例POIKTMP表现为多处棕褐色斑片和色素减退斑，眉毛稀疏。POIKTMP是一种进展性的多系统受累疾病，该病的临床表现与年龄有相关性，早期基因检测以明确诊断对潜在并发症的评估及遗传咨询非常重要。

abstractsObjective:To report a case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), and analyze the genotype-phenotype correlation through a literature review.Methods:The clinical manifestations and genetic testing results of a Chinese Han child with POIKTMP were reported. Relevant literature was searched in databases using ′FAM111B gene′, ′hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis′ or ′POIKTMP′ as keywords, and the clinical manifestations, mutation sites of the FAM111B gene, and the correlation between them were statistically analyzed.Results:A 6.5-year-old girl developed POIKTMP at 6 months of age. Dermatological examination showed irregular brown patches and dotted hypopigmentation on the face and neck, mainly on the forehead and around the mouth, telangiectasia on the cheeks and nose, pigmentation and hypopigmentation on the limbs and trunk, as well as sparse, pale eyebrows. A total of 39 cases of POIKTMP were retrieved, including this case, all of which had clinical data and were definitively diagnosed. Fourteen variants of the FAM111B gene had been reported, including 1 in-frame deletion variant and 13 missense variants. Among the 39 cases, the incidence of poikiloderma/photosensitivity/facial erythema/telangiectasia was 100% (39/39), alopecia was 87.2% (34/39), and that of hypohidrosis/heat intolerance was 82.1% (32/39). The incidence of extracutaneous manifestations was as follows: tendon contractures/digital sclerosis, 69.2% (27/39) ; elevated liver transaminases, 46.2% (18/39) ; muscle pain/weakness/amyotrophy, 43.6% (17/39). The incidence of eczema-like lesions, bullous lesions, and elevated liver transaminases was significantly higher in the young versus the adult group ( P < 0.05) . Conclusions:This case of POIKTMP was characterized by brown patches, hypopigmentation, and sparse eyebrows. POIKTMP is a progressive multisystem disorder with age-related clinical manifestations. Early genetic testing is crucial for evaluating potential complications and providing genetic counseling.