关键词: 皮肤疾病, 遗传性, 色素沉着异常, 外胚层发育不良症, DNA突变分析, 遗传性纤维性皮肤异色病伴跟腱挛缩、肌病和肺纤维化, FAM111B基因

Abstract: 【Abstract】 A 2-year- and 2-month-old girl developed recurrent eczema-like rashes 7 days after birth, followed by the occurrence of poikiloderma and hair loss. Cholestasis occurred at the age of 1 month and 10 days, which was improved but serum transaminase levels were elevated after 4 months. The patient usually presented with slight sweating, heat intolerance, and delayed gross motor development. Skin examination showed generalized mottled hypo- and hyper-pigmented patches, especially in the exposed areas, and sparse hair and eyebrows. Her parents had no similar clinical manifestations. Whole-exome sequencing showed a mutation c.1883G>A （p.Ser628Asn） in the FAM111B gene in the child, which was not found in her parents. According to the typical skin lesions, abnormal liver function and genetic testing results, this patient was diagnosed with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, and the mutation c.1883G>A in the FAM111B gene may be the cause of the patient′s clinical manifestations. The patient received hepatoprotective therapy, sun screen intervention, rehabilitation training, etc. After 10-month follow-up, the patient still presented with skin lesions and elevated transaminases, but without other discomforts.

Key words: Skin diseases, genetic, Pigmentation disorders, Ectodermal dysplasia, DNA mutational analysis, Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, FAM111B gene