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伴有多发性皮肤骨瘤的奥尔布赖特遗传性骨营养不良

[Albright's hereditary osteodystrophy with multiple cutaneous osteomas].

作者信息

Lorette G, Valat J P, Gatti P, Fetissoff F, Arbeille B, Boistard C, Moraine C

出版信息

Ann Dermatol Venereol. 1984;111(12):1073-9.

PMID:6529078
Abstract

Hereditary osteodystrophy of Albright's is a set of hereditary dystrophies associated or not with renal and bony resistance to the parathyroid hormone. Two observations of a true brotherhood are reported. These two patients had in common: short stature, obesity (especially facio-troncular), round face, flat and saddled nose, short neck, early cataract and mental deficiency. One of them showed fourth metacarpals. In these two cases there were cutaneous ossifications, markedly profuse on one of them than the other. These ossifications are a frequent manifestation of the osteodystrophy of Albright's. They appear as cutaneous nodules on any part of the body and are visible, palpable and present on X-ray examination. These ossifications share other phenotypic expressions of the disease and do not seem to be related to the resistance against parathyroid hormone.

摘要

奥尔布赖特遗传性骨营养不良是一组与甲状旁腺激素的肾骨抵抗相关或不相关的遗传性营养不良。报告了一对亲兄弟的两个病例。这两名患者有以下共同特征:身材矮小、肥胖(尤其是面部和躯干)、圆脸、扁平和鞍状鼻、短颈、早期白内障和智力缺陷。其中一人有第四掌骨。在这两个病例中均有皮肤骨化,其中一人比另一人明显更严重。这些骨化是奥尔布赖特骨营养不良的常见表现。它们表现为身体任何部位的皮肤结节,在X线检查中可见、可触及且存在。这些骨化与该疾病的其他表型表现相同,似乎与对甲状旁腺激素的抵抗无关。

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