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McCune-Albright 综合征:1 例男性病例报告。

McCune-Albright syndrome: a case report in a male.

机构信息

Department of Dermatology, Smt. S.C.L. Hospital, Smt. NHL Municipal Medical College, Ahmedabad, India.

出版信息

Indian J Dermatol Venereol Leprol. 2010 Nov-Dec;76(6):723. doi: 10.4103/0378-6323.72473.

Abstract

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple café-au-lait macules and deforming polyostotic fibrous dysplasia involving long bones of the limbs, skull and spine without any endocrine abnormality. Severe bone deformities involving almost all bones have not been described previously and this prompted us to present the current case.

摘要

McCune-Albright 综合征(MAS)是一种罕见的、异质性的临床病症,由罕见的基因突变引起。该疾病在女性中更为常见,其特征是皮肤、骨骼和内分泌异常三联征。我们描述了一名男性 MAS 患者,他有多发性咖啡斑牛奶斑和变形性多骨纤维结构不良,累及四肢长骨、颅骨和脊柱,但没有任何内分泌异常。以前没有描述过涉及几乎所有骨骼的严重骨骼畸形,这促使我们提出了目前的病例。

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