Erickson Jonathan, McAuliffe William, Blennerhassett Lewis, Halbert Anne
Department of Dermatology, Princess Margaret Hospital for Children, Perth, WA, Australia.
Neurological Intervention and Imaging Service of Western Australia, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Pediatr Dermatol. 2017 Nov;34(6):e317-e320. doi: 10.1111/pde.13260.
Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow-flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.
纤维脂肪性血管异常（FAVA）是一种罕见的复杂间充质畸形，它将受累肌肉的纤维脂肪替代与缓慢血流的血管畸形结合在一起。这种疾病的特征是局部肿胀、剧痛、静脉扩张以及受累肢体挛缩。对于这种罕见的、最近才被认识的疾病，治疗模式尚未明确确立。我们报告了两例FAVA病例，其中西罗莫司治疗使疼痛和生活质量迅速、显著改善。
