Department of Medicine, Royal Prince Alfred Hospital, University of Sydney, Sydney, Australia.
Mod Rheumatol. 2012 Feb;22(1):158-62. doi: 10.1007/s10165-011-0487-7. Epub 2011 Jul 6.
We report a patient with the extremely rare familial multiple lipomatosis syndrome, who developed the uncommon autoimmune disease cytophagic histiocytic panniculitis, manifested as inflammation of preexisting lipomas. Despite his initial critical condition and unsuccessful treatment with steroids, he responded to cyclosporin and remains well 15 years after diagnosis. In contrast with most previous reports, our patient stays dependent on cyclosporin; repeated attempts of discontinuing or substituting treatment were quickly followed by relapse. Haemophagocytic panniculitis is considered as a T-cell disorder, but its exact pathophysiological mechanism has not been clarified. Differential diagnosis of cytophagic histiocytic panniculitis mainly includes malignant histiocytosis, subcutaneous panniculitis-like T-cell lymphoma (SPTCL) and lupus erythematosus panniculitis (lupus profundus). We discuss the main clinical features, diagnostic challenges and treatment issues of this usually benign, but at times life-threatening autoimmune condition.
我们报告了一例极为罕见的家族性多发性脂肪瘤病综合征患者，该患者发生了罕见的自身免疫性疾病噬血细胞性组织细胞性脂膜炎，表现为原有脂肪瘤的炎症。尽管他最初的病情危急，且类固醇治疗无效，但他对环孢素反应良好，在诊断后 15 年仍状况良好。与大多数先前的报告不同，我们的患者仍然依赖于环孢素；反复尝试停药或换药很快就会复发。噬血细胞性组织细胞性脂膜炎被认为是 T 细胞疾病，但确切的病理生理机制尚未阐明。噬血细胞性组织细胞性脂膜炎的鉴别诊断主要包括恶性组织细胞增多症、皮下脂膜炎样 T 细胞淋巴瘤（SPTCL）和红斑狼疮性脂膜炎（狼疮性深部脂膜炎）。我们讨论了这种通常良性但有时危及生命的自身免疫性疾病的主要临床特征、诊断挑战和治疗问题。
