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Case Report: Plate-like osteoma cutis: nothing but skin and bone?

机译:病例报告:板状骨质瘤:除了皮肤和骨骼外,什么都没有?

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摘要

Osteoma cutis encompasses a group of cutaneous ossifying disorders, more commonly secondary to trauma, inflammation or neoplasms. Fourteen per cent, however, are primary, and these may be syndromatic (associated to Albright's hereditary osteodystrophy) or occur in isolation. We report a case of a 10-year-old girl who presented with a stone-hard plate on the scalp, with no relevant personal or family history, nor changes in calcium-phosphate metabolism, parathyroid hormone or thyroid function. Skin biopsy confirmed osteoma cutis. Plate-like osteoma cutis is rare, and believed to be a non-progressive form of heterotopic ossification, included in the spectrum of progressive osseus heteroplasia and Albright hereditary osteodystrophy, due to GNAS gene mutations. This recently clarified association should remind us of the possible unfavourable evolution of a seemingly innocent clinical picture, emphasising the need for appropriate evaluation, management and follow-up.
机译:角质骨包括一组皮肤骨化性疾病,更常见于继发于创伤,炎症或肿瘤。但是,有14%是原发性的,可能是综合症状性的(与奥尔布赖特的遗传性骨营养不良有关)或孤立发生。我们报道了一例10岁女孩,头皮上有一块坚硬的钢板,没有相关的个人或家族史,磷酸钙代谢,甲状旁腺激素或甲状腺功能也没有变化。皮肤活检确诊为骨瘤皮肤。板状的骨质瘤很少见,被认为是异位骨化的一种非渐进形式,由于GNAS基因突变,已包括在进行性骨异位症和奥尔布赖特遗传性骨营养不良的范围内。这种最近澄清的关联性应该使我们想起看似无辜的临床情况可能发生的不利变化,强调需要进行适当的评估,管理和随访。

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