关键词: 基因型, 表型, 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

Abstract: 【Abstract】 Objective 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.

Key words: Genotype, Phenotype, FAM111B gene, Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis