Cina S J, Radentz S S, Smialek J E
Office of the Armed Forces Medical Examiner, Wilford Hall, Lackland AFB, Tex. 78236, USA.
Arch Pathol Lab Med. 1999 Oct;123(10):946-8. doi: 10.5858/1999-123-0946-ACOFAW.
Familial angiolipomatosis is a rare syndrome that may be confused clinically with neurofibromatosis type 1. This condition is most often inherited in an autosomal recessive manner; however, several reports have been published suggesting an autosomal dominant mode of inheritance. Angiolipomatosis, although somewhat disfiguring, is a benign condition with no known association with malignant neoplasms. This is in contradistinction to neurofibromatosis, an autosomal dominant syndrome associated with a myriad of benign and malignant neoplasms. It is, therefore, important to discriminate this entity from neurofibromatosis when a patient presents with multiple subcutaneous tumors and a family history of similar lesions. Described is a case of a prison inmate with a history of seizures and "neurofibromatosis" without clinical documentation. Lisch nodules were noted on the irides. Postmortem examination showed multiple subcutaneous yellow tumors on the chest and arms. Fine-needle aspiration of 1 mass yielded adipose tissue with prominent vessels; histologic sections of another mass showed angiolipoma. The remainder of the autopsy showed significant coronary artery disease and a remote cerebral infarction of the temporal lobe but no signs of neurofibromatosis. We feel that the presence of multiple angiolipomas in combination with Lisch nodules lends credence to the proposed relationship between fatty tumors and neurofibromatosis suggested by other authors.
家族性血管脂肪瘤病是一种罕见的综合征，临床上可能会与1型神经纤维瘤病混淆。这种疾病最常以常染色体隐性方式遗传；然而，已有多篇报道提示其存在常染色体显性遗传模式。血管脂肪瘤病虽然在一定程度上会影响外观，但却是一种良性疾病，尚无证据表明其与恶性肿瘤有关。这与神经纤维瘤病不同，后者是一种常染色体显性综合征，与多种良性和恶性肿瘤相关。因此，当患者出现多个皮下肿瘤且有类似病变的家族史时，将这种疾病与神经纤维瘤病区分开来很重要。本文描述了一例有癫痫病史且被诊断为“神经纤维瘤病”但无临床记录的监狱囚犯病例。在虹膜上发现了Lisch结节。尸检显示胸部和手臂有多个皮下黄色肿瘤。对其中一个肿块进行细针穿刺抽吸，结果显示为富含血管的脂肪组织；另一个肿块的组织切片显示为血管脂肪瘤。尸检的其余部分显示有严重的冠状动脉疾病和颞叶陈旧性脑梗死，但没有神经纤维瘤病的迹象。我们认为，多个血管脂肪瘤与Lisch结节的同时存在，为其他作者提出的脂肪性肿瘤与神经纤维瘤病之间的关系提供了证据。
