Sandhu Simarpreet V, Sandhu Jagpreet Singh, Sabharwal Amarpreet
Department of Oral and Maxillofacial Pathology, Genesis Institute of Dental Sciences and Research, Ferozepur, Punjab, India.
J Oral Maxillofac Pathol. 2012 May;16(2):301-5. doi: 10.4103/0973-029X.99097.
Fibrous dysplasia (FD) of bone is a congenital non-heritable disorder that was first reliably reported by von Recklinghausen, when he described patients with pathologic condition of bone characterized by deformity and fibrotic changes that he termed as osteitis fibrosa generalisata. FD may involve one bone (monostotic) or multiple bones (polyostotic) and occurs throughout the skeleton with predilection for long bones, ribs, and cranio-facial bones. Seventy percent of the lesions are monostotic and asymptomatic, and identified incidentally. The polyostotic form of disease is often deforming and devastating, with multiple skeletal complications like repeated fractures, limb length discrepancies, and bone pains. The bone lesion of unknown origin is characterized by slow progressive replacement of normal bone by abnormal proliferative, isomorphic fibrous tissue. This case report documents a 40-year-old male with severe polyostotic FD that involved most of the skeleton, including long bones of all extremities, pelvis, facial bones, and skull base. Initial evaluation consisted of physical examination, plain radiographs, which was followed by computed tomography scan, Single-photon emission computed tomography scan, and biochemical and hematological examination. This paper stresses on the clinical implications and management of this rare debilitating disease.
骨纤维发育不良（FD）是一种先天性非遗传性疾病，最早由冯·雷克林豪森可靠报道，当时他描述了患有以畸形和纤维化改变为特征的骨病理状况的患者，他将其称为全身性纤维性骨炎。FD可累及一块骨（单骨型）或多块骨（多骨型），可发生于全身骨骼，以长骨、肋骨和颅面骨最为常见。70%的病变为单骨型且无症状，多为偶然发现。多骨型疾病常导致畸形和严重破坏，伴有多种骨骼并发症，如反复骨折、肢体长度差异和骨痛。这种病因不明的骨病变的特征是正常骨被异常增生的、同形的纤维组织缓慢进行性替代。本病例报告记录了一名40岁男性，患有严重的多骨型FD，累及大部分骨骼，包括所有四肢的长骨、骨盆、面骨和颅底。初始评估包括体格检查、X线平片，随后进行计算机断层扫描、单光子发射计算机断层扫描以及生化和血液学检查。本文强调了这种罕见的致残性疾病的临床意义和治疗。
