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See Latest ArticlesBlueberry Muffin Rash as the Presenting Sign of Aicardi-Goutières Syndrome
Pediatric Dermatology, 08/14/09
Brisman S et al. – A 36–week gestation singleton male infant was born with hypoglycemia, thrombocytopenia, transaminitis, microcephaly, and a generalized eruption of bluish–red nonblanching macules and papules. Head computed tomography showed intracranial calcifications and enlarged ventricles. Skin biopsy was consistent with extramedullary hematopoiesis, with no evidence of neoplastic infiltrate. Family history was notable for parental consanguinity and twin sisters with the diagnosis of Aicardi–Goutières syndrome.
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