Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia.
Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia.
复制标题
坏疽性脓皮病：未确诊范可尼贫血中骨髓增生异常综合征的表现。
DOI：
10.5070/d3251042612
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发表时间：
2019
影响因子：
--
通讯作者：
S. Wolverton
中科院分区：
文献类型：
--
作者：
Prasanthi Kandula;Kishan M Shah;J. Wolverton;Cuong Le;S. Wolverton
一名 26 岁男性，有先天性双侧小耳畸形、单侧肾发育不全、左耳闭锁和右外耳道闭塞病史，入院接受右肋软骨移植和左耳重建。手术后，收获部位出现紫红色边界和黄色纤维蛋白基底的溃疡，对广谱抗生素无反应。伤口正在扩大，并且对全身广谱抗生素没有反应。活检显示真皮内有致密的中性粒细胞浸润，组织培养呈阴性，与坏疽性脓皮病 (PG) 一致。他接受了全身、病灶内和局部类固醇以及强力霉素的治疗。确诊 PG 三周后，他被发现患有持续性贫血和白细胞减少症。骨髓抽吸分析与低细胞骨髓增生异常综合征一致，基因检测与范可尼贫血一致。众所周知，PG 与血液系统疾病存在关联。范可尼贫血是一种罕见的遗传性血液疾病，其先天性缺陷会导致骨髓衰竭和长期患病的恶性肿瘤。在我们的患者中，我们认为他的 PG 是一种副肿瘤征兆，与低细胞性骨髓增生异常综合征的发作相关。
A 26-year-old man with a history of congenital bilateral microtia, unilateral renal agenesis, left aural atresia, and right external auditory canal occlusion admitted for right rib cartilage graft harvest and left ear re-construction. Following surgery, an ulceration with violaceous borders and a yellow fibrinous base unresponsive to broad-spectrum antibiotics developed at the harvest site. The wound was expanding and not responsive to systemic broad-spectrum antibiotics. Biopsy revealed a dense dermal infiltrate of neutrophils with negative tissue cultures consistent with pyoderma gangrenosum (PG). He was treated with systemic, intralesional, and topical steroids, as well as doxycycline. Three weeks after the diagnosis of PG, he was found to have persistent anemia and leukopenia. Bone marrow aspiration analysis was consistent with hypocellular myelodysplastic syndrome and genetic testing was consistent with Fanconi anemia. There is a well-known association of PG with hematological disorders. Fanconi anemia is a rare genetic hematologic disorder with congenital defects leading to bone marrow failure and malignancy in long-standing disease. In our patient, we consider his development of PG a paraneoplastic sign associated with the onset of his hypocellular myelodysplastic syndrome.