Department of Translational Medical Sciences, Section of Pediatrics, Federico II University of Naples, Naples, Italy.
Department of Neonatology and NICU Pineta Grande Hospital, Castel Volturno, Italy.
Pediatr Dermatol. 2021 Sep;38(5):1357-1358. doi: 10.1111/pde.14735. Epub 2021 Aug 2.
"Blueberry muffin baby" is an expression applied to newborns displaying a generalized purpuric rash caused by dermal erythropoiesis. This presentation is typically associated with TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections. However, alternative diagnoses should be considered, including other infections, neoplastic diseases, congenital vascular lesions, and metabolic diseases. We report a case of perinatal-lethal-type Gaucher disease presenting with cholestasis, hepatosplenomegaly, persistent thrombocytopenia, and blueberry muffin-like skin lesions.
“蓝莓松饼婴儿”是一个用来描述新生儿出现全身性发疹性红斑的术语，这种发疹性红斑是由于皮肤内红细胞生成引起的。这种表现通常与 TORCH（弓形虫病、其他、风疹、巨细胞病毒和疱疹病毒）复合感染有关。然而，应该考虑其他诊断，包括其他感染、肿瘤性疾病、先天性血管病变和代谢性疾病。我们报告了一例围产期致死型戈谢病，其表现为胆汁淤积、肝脾肿大、持续性血小板减少和蓝莓松饼样皮肤损伤。
