Eberst E, Michel B, Stoebner P, Dandurand M, Meunier L
Service de dermatologie, groupe hospitalier universitaire Carémeau, Nîmes, France.
Ann Dermatol Venereol. 2011 Aug-Sep;138(8-9):586-90. doi: 10.1016/j.annder.2011.02.016. Epub 2011 Apr 15.
Aleukaemic leukaemia--without blasts in the blood or the bone marrow--with isolated cutaneous manifestations has been very rarely reported since only seven patients have been described to date. The prognosis is variable, and the indications for an aggressive treatment such as polychemotherapy are currently unclear. We report a case of spontaneously remitting aleukaemic leukaemia in a newborn child and compare it with other cases in the literature.
A male newborn presented diffuse, violaceous skin nodules reminiscent of the so-called "blueberry muffin syndrome" present since birth. Blood and marrow examinations did not show any blasts and karyotype was normal. Biopsy of a nodule established the diagnosis of acute myeloid leukaemia type 5. The course was spontaneously favourable despite the absence of specific therapy and the boy was asymptomatic after one year of follow-up.
Of the eight reported infants (including ours), three died, including two through acute transformation of the leukaemia. The prognosis seems to be highly dependent on cytogenetic features with the 11q23 rearrangement being at higher risk of acute transformation, prompting recourse to aggressive chemotherapy. Our case further illustrates the favourable prognostic value of a normal karyotype, a situation in which therapeutic abstention seems possible, and is even recommended.
无白血病性白血病——血液或骨髓中无原始细胞——伴孤立性皮肤表现的情况鲜有报道，迄今为止仅描述过7例患者。其预后各不相同，目前对于多药化疗等积极治疗的指征尚不清楚。我们报告1例新生儿无白血病性白血病自发缓解的病例，并将其与文献中的其他病例进行比较。
1名男婴自出生起即出现弥漫性紫蓝色皮肤结节，类似所谓的“蓝莓松饼综合征”。血液和骨髓检查未发现任何原始细胞，核型正常。对一个结节进行活检确诊为5型急性髓系白血病。尽管未进行特殊治疗，但病程自发向好，随访1年后该男孩无症状。
在已报道的8例婴儿（包括我们的病例）中，3例死亡，其中2例死于白血病急性转化。预后似乎高度依赖细胞遗传学特征，11q23重排的急性转化风险更高，因此需要采取积极的化疗。我们的病例进一步说明了正常核型的良好预后价值，在这种情况下似乎可以避免治疗，甚至是推荐这样做。
