McCune Albright氏症候群合併牙齦纖維性增生：病例報告

McCune Albright症候群是由GNAS基因突變引起，症狀包括骨性纖維性發育不良、皮膚咖啡牛奶斑、內分泌異常、性早熟等。此案例報告為一罹患McCune Albright症候群之12歲女性，有脊椎側彎、皮膚鋸齒狀的咖啡牛奶斑、頭顱骨異常增大、顳骨乳突突出、上顎骨暴、眼距過寬、上下顎齒槽骨與牙齦增生、齒列不正等症狀，需要跨專科團隊的治療與照護。病人在全身麻醉下接受顱骨削骨手術和牙齦切除手術，病理切片下可見纖維性發育不良與牙齦纖維瘤病。McCune Albright症候群對病人外觀、健康、生活與心理影響甚大，需要跨專科的醫療團隊給予病人完整的治療關懷。

關鍵字

McCune Albright症候群；纖維性發育不良；牙齦纖維瘤病

並列摘要

McCune Albright Syndrome is a rare disorder arising from somatic-activating GNAS mutations, classically defined by the clinical triad of fibrous dysplasia of bone, café-au-lait skin macules, and endocrinopathies. We present a 12-year-old girl of McCune Albright syndrome, with clinical presentation of C-shaped scoliosis, enlarged skull bone, protruded mastoid process and maxilla, hypertelorism, and diffusely enlarged alveolar process and gingiva. The patient received bony lesion shaving, alveoloplasty, and gingivectomy. The microscopic findings showed a picture of fibrous dysplasia of bone, and hyperplastic gingival tissue with fibromatosis. McCune Albright Syndrome, as a mosaic, multisystemic disorder affecting variable aspect of life quality of patient, should be taken care by the cooperation of multidisciplinary physical specialists.

並列關鍵字

McCune Albright syndrome ； fibrous dysplasia ； gingival fibromatosis

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