多骨纤维发育不良伴广泛软骨分化:一例临床模拟脂肪肝疾病的罕见病例

IF 0.1 Q4 PATHOLOGY AJSP: reviews & reports Pub Date : 2021-01-01 DOI:10.1097/PCR.0000000000000427
Melanie H Hakar, C. Chapman, B. Hansford, Jessica L. Davis
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引用次数: 2

摘要

摘要纤维性发育不良是由GNAS1基因错义突变引起的骨发育不良。纤维软骨发育不良(也称为纤维软骨发育不良或纤维性发育不良伴广泛软骨分化)是一种罕见的纤维性发育不良伴广泛软骨分化,多发于下肢,可影响单侧或多侧骨骼。虽然是良性的,但这种实体会引起逐渐扩大的病变,导致畸形并最终导致病理性骨折。在影像学上,该实体可表现出与各种良恶性软骨形成肿瘤一致的特征。我们提出的情况下,16岁的男性患者谁提出的临床史脂肪肝疾病和多发性内软骨瘤推定。患者因进行性胫骨畸形、病理性骨折和疼痛接受膝下截肢。多发性下肢骨镜检查显示纤维-骨性病变伴大量软骨分化,符合纤维-软骨发育不良。
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Polyostotic Fibrous Dysplasia With Extensive Cartilaginous Differentiation: A Rare Case Clinically Mimicking Ollier Disease
Abstract Fibrous dysplasia is a dysplastic disorder of bone caused by missense mutations of the GNAS1 gene. Fibrocartilaginous dysplasia (also known as fibrochondrodysplasia or fibrous dysplasia with extensive cartilaginous differentiation) is a rare variant of fibrous dysplasia with extensive cartilaginous differentiation that shows a predilection for the lower extremities and can affect one or multiple bones. Although benign, this entity causes progressively expansile lesions that can lead to deformity and ultimately pathologic fracture. On imaging, this entity can show features consistent with a variety of benign and malignant cartilage-forming tumors. We present the case of a 16-year-old male patient who presented with clinical history of Ollier disease and multiple presumed enchondromas. He underwent below-the-knee amputation for progressive tibial deformity, pathologic fracture, and pain. Microscopic examination of multiple lower-extremity bones revealed a fibro-osseous lesion with massive cartilaginous differentiation consistent with fibrocartilaginous dysplasia.
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