Anusic Sandra, Clemens Robert Karl Josef, Meier Thomas Oleg, Amann-Vesti Beatrice Ruth
Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland.
BMJ Case Rep. 2016 Jun 29;2016:bcr2016215188. doi: 10.1136/bcr-2016-215188.
Misdiagnosis of phosphatase and tensin homologue hamartoma syndromes is common. Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented maculae on the foreskin and multiple skin lesions. MRI showed extended fibrofatty changes and malformed vessels in the forearm and calf lesions, also, arteriovenous shunting was present in these lesions. The patient had been treated by embolisation and surgically in the past, with limited results. A multidisciplinary assessment and genetic counselling were undertaken and a surveillance programme was initiated. Treatment options of the symptomatic vascular lesions include excision or possibly cryoablation. Physiotherapy to prevent progression of the contractures should be initiated meanwhile.
磷酸酶和张力蛋白同源物错构瘤综合征的误诊很常见。正确诊断对患者有重要影响，因为恶性肿瘤风险高且治疗选择有限。我们报告一例24岁男性病例，其出现左前臂和右小腿有症状的血管性肌内病变、巨头畸形、桥本甲状腺炎后、颅内三角旁多囊性病变、包皮上的雀斑样色素沉着斑和多处皮肤病变。MRI显示前臂和小腿病变有广泛的纤维脂肪改变和血管畸形，这些病变中还存在动静脉分流。该患者过去曾接受栓塞治疗和手术治疗，效果有限。进行了多学科评估和遗传咨询，并启动了监测计划。有症状的血管病变的治疗选择包括切除或可能的冷冻消融。同时应开始物理治疗以防止挛缩进展。
