Delsignore J L, Dvoretsky P M, Hicks D G, O'Keefe R J, Rosier R N
Department of Orthopaedics, University of Rochester, NY 14642, USA.
Iowa Orthop J. 1996;16:126-34.
Mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. Knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis.
肥大细胞增多症是一种罕见的肥大细胞增殖性疾病，累及包括皮肤、骨骼、胃肠道、肝脏、肺、脾脏和淋巴结在内的网状内皮系统。系统性肥大细胞增多症的特征是一系列与肥大细胞释放血管活性物质（如组胺）相关的症状。这些症状包括色素性荨麻疹、潮红、伴有低血压的晕厥、头痛、恶心、呕吐、腹泻以及偶尔的支气管痉挛。肥大细胞增多症的诊断通常基于特征性的骨外表现。在70% - 75%的肥大细胞增多症患者中可见一种公认的X线特征，即弥漫性骨质溶解和骨质硬化，主要影响中轴骨骼和长骨末端。极少情况下，骨骼受累表现为全身性骨质疏松，可导致病理性骨折，或孤立性病变（肥大细胞瘤），可引起局部疼痛症状。4例先前诊断为系统性肥大细胞增多症的患者有不寻常的骨骼病变。对这些患者的临床和实验室评估最终得出了系统性肥大细胞增多症的正确诊断。我们报告这4例病例，以强调对于伴有肥大细胞增多症特征性骨外症状的不寻常肌肉骨骼表现进行全面评估的必要性。对不寻常骨骼病变进行广泛鉴别诊断的知识应包括系统性肥大细胞增多症。
