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皮肤骨瘤作为假性甲状旁腺功能减退症的首发体征。

Osteoma cutis as a presenting sign of pseudohypoparathyroidism.

作者信息

Prendiville J S, Lucky A W, Mallory S B, Mughal Z, Mimouni F, Langman C B

机构信息

Department of Pediatrics, Northwestern University, Chicago, Illinois.

出版信息

Pediatr Dermatol. 1992 Mar;9(1):11-8. doi: 10.1111/j.1525-1470.1992.tb00318.x.

Abstract

Four unrelated children with osteoma cutis and Albright hereditary osteodystrophy (pseudohypoparathyroidism and pseudopseudohypoparathyroidism) are described. All four patients were normocalcemic when they were first seen with cutaneous ossification. A diagnosis of Albright hereditary osteodystrophy was established on the basis of associated somatic features, radiographic abnormalities, and family history. Progression to pseudohypoparathyroidism was documented in two children who developed hypocalcemia at 2 and 3 years of age, respectively. Early recognition of the skin manifestations of this syndrome and careful follow-up are important to prevent the deleterious effects of hypocalcemia. Osteoma cutis is a common sign of Albright hereditary osteodystrophy in infancy and childhood, and its significance should not be overlooked, even in the normocalcemic patient.

摘要

本文描述了4例患有皮肤骨瘤和奥尔布赖特遗传性骨营养不良(假甲状旁腺功能减退症和假假甲状旁腺功能减退症)的无血缘关系儿童。这4例患者首次出现皮肤骨化时血钙均正常。基于相关的躯体特征、影像学异常和家族史,确诊为奥尔布赖特遗传性骨营养不良。两名儿童分别在2岁和3岁时出现低钙血症,进展为假甲状旁腺功能减退症。早期识别该综合征的皮肤表现并进行仔细随访对于预防低钙血症的有害影响很重要。皮肤骨瘤是婴儿期和儿童期奥尔布赖特遗传性骨营养不良的常见体征,即使在血钙正常的患者中,其意义也不应被忽视。

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