GRACE NICU, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Oncology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
BMJ Case Rep. 2023 Apr 7;16(4):e251523. doi: 10.1136/bcr-2022-251523.
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.
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。