Wenokor Gregory, Suster David, de Leon Ada Baisre, Liu James K, Wenokor Cornelia, Nimchinsky Esther A
Department of Radiology, Rutgers New Jersey Medical School, MSB F-506, 185 South Orange Avenue, Newark, NJ, 07103, USA.
Department of Pathology, Immunology and Laboratory Medicine, Rutgers New Jersey Medical School, MSB C-579, 185 South Orange Avenue, Newark, NJ, 07103, USA.
Skeletal Radiol. 2025 Feb 13. doi: 10.1007/s00256-025-04882-w.
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.
骨蜡油样骨病是一种罕见的骨病，表现为在现有骨表面生长的硬化性病变。该病病因不明，男女发病率相同。该病外观独特，文献中描述其放射学表现为蜡油流淌状，通常发生于四肢骨骼。我们报告一例55岁男性患者颅骨的极为罕见的骨蜡油样骨病病例，最初被认为是巨大骨瘤，并讨论其CT和MRI特征、病理及手术治疗。最近，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，对此也将进行讨论。本病例报告将有助于放射科医生对罕见病的不寻常表现做出正确诊断。
