Zenon C, Bouffioux B, Louis J
Service de Dermatologie, Clinique Notre-Dame, Charleroi.
Ann Dermatol Venereol. 1998 Mar;125(3):199-201.
Blueberry muffin baby is a characteristic neonatal syndrome characterized by multiple dark-bluish skin nodules. The clinical significance and prognosis of this syndrome are variable.
A male child was born to non-consanguinous parents. At birth, a polymalformative syndrome associated macrostomy, bilateral cryptochidy and hexadactyly. There were also about twenty firm dark-bluish skin nodules disseminated over the entire body. These skin lesions regressed spontaneously within one month. Pathology examination of a skin nodule showed lymphomonocyte proliferation. Immunostaining favored T cell infiltration without monoclonal proliferation. Medullar genome mapping showed evidence of a fragile site on the end of chromosome 20. At 8 months the child had normal development.
We attributed this blueberry muffin baby syndrome to T cell proliferation but we were unable to distinguish between extramedullary leukopoiesis and leukemia. Despite the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in the case. The association of blueberry muffin baby syndrome with a polymalformative syndrome was probably related to a genetic anomaly on chromosome 20 not previously reported.
蓝莓松饼样婴儿是一种以多个深蓝色皮肤结节为特征的新生儿综合征。该综合征的临床意义和预后各不相同。
一名男婴由非近亲父母所生。出生时，患有一种伴有巨口畸形、双侧隐睾和多指畸形的多发畸形综合征。全身还散布着约20个质地坚实的深蓝色皮肤结节。这些皮肤病变在1个月内自行消退。对一个皮肤结节进行病理检查显示淋巴细胞增生。免疫染色显示以T细胞浸润为主，无单克隆增殖。骨髓基因组图谱显示20号染色体末端存在一个脆性位点。该患儿8个月时发育正常。
我们将此蓝莓松饼样婴儿综合征归因于T细胞增殖，但无法区分髓外造血和白血病。尽管没有系统性疾病且病变完全消退，但该病例仍无法明确诊断和判断预后。蓝莓松饼样婴儿综合征与多发畸形综合征的关联可能与之前未报道的20号染色体上的基因异常有关。
