Panniculitis in a 3-year-old child with Fanconi anemia-associated bone marrow hypoplasia heralds transformation to acute myeloid leukemia.

范可尼贫血相关骨髓发育不全的 3 岁儿童脂膜炎预示着向急性髓细胞性白血病的转变。

• 影响指数: 1.997
• 发表时间: Sep 2019
• 来源期刊: Pediatr Dermatol
• DOI: 10.1111/pde.13872
• PMID: 31318095
• 文章类型: Case Reports
• 中科院分区: Q4
• 方向: 医学
• 作者列表: Webber L,Cummins M,Mann R,Shaw L,Ghinai R,Mahon C

关键词: Fanconi anemia; acute myeloid leukemia; neutrophilic disorders; panniculitis; subcutaneous Sweet syndrome

Mesh: Bone Marrow / pathology; Child, Preschool; Fanconi Anemia / pathology; Humans; Leukemia, Myeloid, Acute / etiology pathology; Male; Panniculitis / pathology; Sweet Syndrome / pathology

Abstract

Fanconi anemia is a rare, autosomal recessive genomic instability disorder characterized by congenital limb anomalies, panmyelopathy and a high risk of malignancy, principally acute myeloid leukemia. Hematologic malignancy presenting with acute febrile neutrophilic dermatosis (Sweet syndrome), both deep and superficial forms, is well described in Fanconi anemia patients but is a rare phenomenon in otherwise healthy children. We present a case of panniculitis (presumptive subcutaneous Sweet syndrome) heralding transformation to acute myeloid leukemia in a 3-year-old boy with a severe Fanconi anemia phenotype.

摘要

范可尼贫血是一种罕见的，以先天性肢体异常为特征的常染色体隐性基因组不稳定障碍，脊髓病和恶性肿瘤的高风险，主要是急性髓细胞性白血病。表现为急性发热性中性粒细胞性皮肤病（Sweet综合征）的血液系统恶性肿瘤，深层和肤浅的形式，在范可尼贫血患者中得到了很好的描述，但在其他健康的儿童中却是罕见的现象。我们介绍了一例脂膜炎（假定的皮下Sweet综合征），预示着一个3岁男孩患有严重的Fanconi贫血表型的急性髓细胞性白血病的转变。