颅骨骨质疏松症:一个极其罕见的病例和诊断的挑战。

IF 2.2 3区 医学 Q2 ORTHOPEDICS Skeletal Radiology Pub Date : 2025-08-01 Epub Date: 2025-02-13 DOI:10.1007/s00256-025-04882-w
Gregory Wenokor, David Suster, Ada Baisre de Leon, James K Liu, Cornelia Wenokor, Esther A Nimchinsky
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引用次数: 0

摘要

骨质疏松症是一种罕见的骨病,表现为在现有骨表面生长的硬化性病变。此病病因不明,男女发病比例相同。这种疾病在外观上是独特的,在文献中描述为具有流动的蜡烛蜡的放射学外观,通常发生在附肢骨骼。我们报告一例极其罕见的55岁男性颅骨骨质疏松症患者,最初被认为是一个大的骨瘤,并讨论其CT和MRI特征、病理和手术处理。近年来,分子生物学研究对该病的潜在发病机制有了新的认识,提示基因突变,本文将对此进行讨论。本病例报告将帮助放射科医生对罕见疾病的异常表现做出正确诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Calvarial melorheostosis: an extremely rare case and diagnostic challenge.

Melorheostosis is a rare bone disease that presents as sclerotic lesions growing on existing bone surfaces. This disease is of unknown etiology and affects both genders equally. The disease is unique in appearance, described in the literature as having a radiologic appearance of flowing candle wax, and usually occurs in the appendicular skeleton. We present an extremely rare case of melorheostosis of the calvarium in a 55-year-old male patient, initially thought to represent a large osteoma, and discuss the CT and MRI features, pathology, and surgical management. Recently, new insights have been gained by molecular biologic studies into the potential pathogenesis of this disease indicating genetic mutations, which will be discussed. This case report will help radiologists arriving at the correct diagnosis for an unusual manifestation of a rare disease.

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来源期刊
Skeletal Radiology
Skeletal Radiology 医学-核医学
CiteScore
4.40
自引率
9.50%
发文量
253
审稿时长
3-8 weeks
期刊介绍: Skeletal Radiology provides a forum for the dissemination of current knowledge and information dealing with disorders of the musculoskeletal system including the spine. While emphasizing the radiological aspects of the many varied skeletal abnormalities, the journal also adopts an interdisciplinary approach, reflecting the membership of the International Skeletal Society. Thus, the anatomical, pathological, physiological, clinical, metabolic and epidemiological aspects of the many entities affecting the skeleton receive appropriate consideration. This is the Journal of the International Skeletal Society and the Official Journal of the Society of Skeletal Radiology and the Australasian Musculoskelelal Imaging Group.
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