Suppr超能文献

三例发生于婴儿期的皮肤骨瘤。简要概述皮肤骨瘤及其与假性假性甲状旁腺功能减退症的关联。

Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.

机构信息

Junior Medical Officer Department, SEALS, Prince of Wales Hospital, New South Wales, Australia.

出版信息

Australas J Dermatol. 2011 May;52(2):127-31. doi: 10.1111/j.1440-0960.2010.00722.x. Epub 2011 Jan 12.

Abstract

We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature with autosomal dominant inheritance from the father, but no dysmorphic features and no parathyroid hormone (PTH) resistance. Osteoma cutis can manifest as an isolated skin disease, a secondary condition to other skin diseases (such as acne), or in association with several syndromes, including AHO, which in turn may be associated with PTH resistance. The management and prognosis of patients diagnosed with osteoma cutis is determined by whether the skin manifestation has occurred in isolation, in association with a syndrome, or as a secondary skin disease. These three paediatric cases highlight the importance of understanding the aetiology and associations of osteoma cutis in order to appropriately investigate and manage patients who present with this rare skin disease.

摘要

我们报告了三例儿童原发性皮肤骨瘤,其中两例(兄妹)与奥尔布赖特遗传性骨营养不良症(AHO)相关,表现为来自父亲的常染色体显性遗传的身材矮小,但无畸形特征,也无甲状旁腺激素(PTH)抵抗。皮肤骨瘤可以表现为一种孤立的皮肤疾病,也可以是其他皮肤疾病(如痤疮)的继发疾病,或者与几种综合征相关,包括 AHO,而 AHO 又可能与 PTH 抵抗相关。诊断为皮肤骨瘤的患者的治疗和预后取决于皮肤表现是孤立发生的,还是与综合征相关,还是作为一种继发性皮肤疾病。这三个儿科病例强调了了解皮肤骨瘤的病因和相关性的重要性,以便对患有这种罕见皮肤疾病的患者进行适当的检查和管理。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验