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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。

相似文献

1
[Albright's hereditary osteodystrophy with multiple cutaneous osteomas].伴有多发性皮肤骨瘤的奥尔布赖特遗传性骨营养不良
Ann Dermatol Venereol. 1984;111(12):1073-9.
2
[Cutaneous osteoma and Albright's hereditary osteodystrophy].[皮肤骨瘤与奥尔布赖特遗传性骨营养不良]
Ann Dermatol Venereol. 1994;121(5):408-13.
3
Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良症
Acta Paediatr Scand. 1980 May;69(3):305-9. doi: 10.1111/j.1651-2227.1980.tb07083.x.
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Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism.婴儿假性甲状旁腺功能减退症中肥胖和皮肤钙化的早期表现。
J Paediatr Child Health. 2006 Dec;42(12):821-3. doi: 10.1111/j.1440-1754.2006.00985.x.
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[Albright's hereditary osteodystrophy: report of three cases].[奥尔布赖特遗传性骨营养不良:三例报告]
Arch Argent Pediatr. 2010 Apr;108(2):e24-7. doi: 10.1590/S0325-00752010000200012.
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Neurofibromatosis and Albright's syndrome.
Dermatol Clin. 1987 Jan;5(1):193-203.
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Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.奥尔布赖特遗传性骨营养不良(假性甲状旁腺功能减退症Ia型):一例伴有GNAS1基因新突变的临床病例
Acta Biomed. 2005 Apr;76(1):45-8.
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Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.伴有甲状腺功能减退、血钙正常及Gs蛋白活性正常的奥尔布赖特遗传性骨营养不良:一个伴有先天性皮肤骨瘤的家系
Am J Med Genet. 1992 Jul 1;43(4):764-7. doi: 10.1002/ajmg.1320430424.
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[Albright's hereditary osteodystrophy I and cataract].
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[Albright hereditary osteodystrophy: identification of a novel mutation in a family].[奥尔布赖特遗传性骨营养不良:一个家族中新型突变的鉴定]
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