Horie Y, Fujita H, Mano S, Kuwajima M, Ogawa K
Department of Clinical Laboratory Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
Pathol Int. 1995 Jul;45(7):530-5. doi: 10.1111/j.1440-1827.1995.tb03497.x.
An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.
报告了一例罕见的尸检病例，患者为一名52岁女性，患有变形综合征，伴有多处错构瘤性病变。出生时，右侧面部发现半侧肥大。37岁时切除了膀胱平滑肌瘤。她死于脑脓肿引起的败血症。尸检时，右侧面部、头皮、嘴唇、口腔黏膜、舌头以及左侧小脑脚发现弥漫性不对称脂肪瘤病。颅内区域有多个脑膜瘤、海绵状血管瘤和骨质肥大重叠。本病例被认为是表现为体细胞镶嵌现象的局限性变形综合征类型。
