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Case Reports
. 2021 Sep;38(5):1357-1358.
doi: 10.1111/pde.14735. Epub 2021 Aug 2.

Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions

Francesco Maria Rosanio  1 , Ida D'Acunzo  1 , Filomena Mozzillo  1 , Rosita Di Pinto  1 , Chiara Tornincasa  1 , Sonia Amabile  2 , Alessandro Piccirillo  2 , Vincenzina Roma  2 , Lucio Giordano  2
Affiliations
Case Reports

Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions

Francesco Maria Rosanio et al. Pediatr Dermatol. 2021 Sep.

Abstract

"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.

Keywords: Gaucher disease; blueberry muffin baby; cholestasis; hepatosplenomegaly; thrombocytopenia.

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References

REFERENCES

    1. Mehta V, Balachandran C. Blueberry muffin baby: a pictorial differential diagnosis. Dermatol Online J. 2008;14(2):8.
    1. Holland KE, Galbraith SS. Neonatal violaceous skin lesions: expanding the differential of the “blueberry muffin baby”. Adv Dermatol. 2005;21:153-192.
    1. Carr PC, Casamiquela KM. Gaucher disease type 2 presenting with collodion membrane and blueberry muffin lesions. Pediatr Dermatol. 2016;33(1):e20-e22.
    1. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441.
    1. Stone WL, Basit H. Gaucher disease. StatPearls Publishing; 2021.

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