Tihan T, Okun J
Department of Pathology, Johns Hopkins Medical Institutions, Carnegie Building, Room 484, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
Pediatr Dev Pathol. 1998 Sep-Oct;1(5):443-8. doi: 10.1007/s100249900061.
Proteus syndrome is an extremely rare, complex hamartomatous disorder with markedly variable clinical expression. We present a case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood. The lesions involved predominantly the right side of the body and included scoliosis, macrodactyly, and limited hyperostosis in the right foot. There was no evidence of cranial or skin lesions. The patient underwent multiple resections of soft tissue masses, including an amputation of the right foot because of severe gait disturbance. All specimens exhibited lipomatous lesions that were probably hamartomatous rather than neoplastic. She carried a diagnosis of neurofibromatosis for more than a decade, but a re-evaluation of clinical features and pathological findings prompted the diagnosis of Proteus syndrome. We believe that a more informed evaluation of the pathology material may help to identify this rare entity.
变形综合征是一种极其罕见的、复杂的错构瘤性疾病，临床表现明显多变。我们报告一例自幼儿期就出现多个毁容性软组织肿块的变形综合征病例。病变主要累及身体右侧，包括脊柱侧弯、巨指（趾）症以及右足局限性骨质增生。未发现颅骨或皮肤病变。患者接受了多次软组织肿块切除术，由于严重步态障碍还进行了右足截肢。所有标本均显示为脂肪瘤样病变，可能是错构瘤而非肿瘤。她被诊断为神经纤维瘤病十多年，但对临床特征和病理结果的重新评估促使诊断为变形综合征。我们认为，对病理材料进行更全面的评估可能有助于识别这种罕见疾病。
