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暂时性表型正常的髓系增生异常伴巨大疱性发疹。

Bullous eruptions in transient abnormal myelopoiesis with normal phenotype.

机构信息

GRACE NICU, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Oncology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

出版信息

BMJ Case Rep. 2023 Apr 7;16(4):e251523. doi: 10.1136/bcr-2022-251523.

Abstract

Cutaneous lesions are common manifestation of congenital leukaemia especially myeloid type with incidence of 25%-50% in reported cases. It is relatively rare in transient abnormal myelopoiesis (TAM) seen in trisomy 21 (~10%). The rashes seen in leukaemia and TAM are different. We report a case with a rare presentation of confluent bullous eruption in a phenotypically normal neonate with trisomy 21 restricted to haematopoietic blast cells. This rash resolved rapidly after low-dose cytarabine therapy with normalisation of total white cell counts. The risk of Down syndrome-associated myeloid leukaemia in such cases is still high (19%-23%) in first 5 years and rare thereafter.

摘要

皮肤损伤是先天性白血病(尤其是髓系白血病)的常见表现,在已报道的病例中发生率为 25%-50%。在 21 三体综合征(约 10%)中,短暂性髓系造血异常(TAM)中较为罕见。白血病和 TAM 中的皮疹不同。我们报告了一例 21 三体综合征表型正常新生儿中罕见的融合性大疱性皮疹,仅限于造血母细胞。这种皮疹在接受小剂量阿糖胞苷治疗后迅速消退,白细胞总数恢复正常。在最初 5 年内,此类病例发生唐氏综合征相关髓系白血病的风险仍然很高(19%-23%),此后风险较低。

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[Myeloid proliferations related to Down syndrome].[与唐氏综合征相关的髓系增殖性疾病]
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本文引用的文献

8
Skin involvement in Down syndrome transient abnormal myelopoiesis.唐氏综合征短暂异常骨髓造血中的皮肤受累情况。
Br J Haematol. 2012 May;157(3):280. doi: 10.1111/j.1365-2141.2012.09079.x. Epub 2012 Mar 3.

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