1.
Pediatr Dermatol
; 38(5): 1357-1358, 2021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34339539
RESUMO
"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.
Assuntos
Exantema , Doença de Gaucher , Púrpura , Dermatopatias , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Humanos , Recém-Nascido , Gravidez , Síndrome
2.
Am J Med Genet A
; 152A(11): 2898-900, 2010 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20949528