Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions.
Gaucher disease
blueberry muffin baby
cholestasis
hepatosplenomegaly
thrombocytopenia
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
pubmed:
3
8
2021
medline:
11
11
2021
entrez:
2
8
2021
Statut:
ppublish
Résumé
"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.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1357-1358Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Mehta V, Balachandran C. Blueberry muffin baby: a pictorial differential diagnosis. Dermatol Online J. 2008;14(2):8.
Holland KE, Galbraith SS. Neonatal violaceous skin lesions: expanding the differential of the “blueberry muffin baby”. Adv Dermatol. 2005;21:153-192.
Carr PC, Casamiquela KM. Gaucher disease type 2 presenting with collodion membrane and blueberry muffin lesions. Pediatr Dermatol. 2016;33(1):e20-e22.
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.
Stone WL, Basit H. Gaucher disease. StatPearls Publishing; 2021.