Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions

被引：2

作者：

Rosanio, Francesco Maria ^{[1
]}

D'Acunzo, Ida ^{[1
]}

Mozzillo, Filomena ^{[1
]}

Di Pinto, Rosita ^{[1
]}

Tornincasa, Chiara ^{[1
]}

Amabile, Sonia ^{[2
,3
]}

Piccirillo, Alessandro ^{[2
,3
]}

Roma, Vincenzina ^{[2
,3
]}

Giordano, Lucio ^{[2
,3
]}

机构：

[1] Federico II Univ Naples, Dept Translat Med Sci, Sect Pediat, Via Sergio Pansini 5, I-80131 Naples, Italy

[2] Dept Neonatol, Caste Volturno, Italy

[3] NICU Pineta Grande Hosp, Caste Volturno, Italy

来源：

PEDIATRIC DERMATOLOGY | 2021年 / 38卷 / 05期

关键词：

blueberry muffin baby; cholestasis; Gaucher disease; hepatosplenomegaly; thrombocytopenia;

D O I：

10.1111/pde.14735

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

"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.

引用

页码：1357 / 1358

页数：2

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