Neonatal Violaceous Skin Lesions: Expanding the Differential of the “Blueberry Muffin Baby”

Holland, Kristen E.; Galbraith, Sheila S.; Drolet, Beth A.

doi:10.1016/j.yadr.2005.07.003

Cited by 20 publications

(31 citation statements)

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“…64 They closely resemble the lesions of congenital leukaemia and the 'blueberry muffin' lesions of extramedullary hae- mopoiesis. 65 A phenomenon of prolonged blanching after palpation, due to local release of catecholamines, has been described but is not present in all cases. 64 Periorbital ecchymoses from bleeding into orbital lesions is a characteristic clinical sign.…”

Section: Neuroblastomamentioning

confidence: 99%

Conditions masquerading as infantile haemangioma: Part 2

2009

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Section: Neuroblastomamentioning

confidence: 99%

Conditions masquerading as infantile haemangioma: Part 2

2009

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“…The blueberry muffin rash is characterized by diffuse blue to purple, sometimes purpuric macules, papules or nodular lesions, with a dominant distribution in trunk, neck and head. It represents a potentially life-threatening condition, which historically is associated with congenital viral infections such as rubella and cytomegalovirus, hematologic dyscrasias or extramedullary hematopoiesis [11]. The differential diagnosis should include several neoplastic disorders, such as neuroblastoma, acute myeloid leukemia and Langerhans cell histiocytosis.…”

Section: Discussionmentioning

confidence: 99%

Mevalonic Aciduria as a Differential Diagnosis of Blueberry Muffin Baby

Wagner¹,

Bellettini²

2016

J Neonatal Biol

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Mevalonate kinase (MK) deficiency is an auto inflammatory autosomal recessive disorder caused by a mutation in the gene encoding MK, an essential enzyme in the biosynthesis of cholesterol and isoprenoids. The disease has a wide clinical spectrum according to enzyme residual activity, the most severe form is known as Mevalonic Aciduria (MA). The aim of this article is to report a clinical case of severe MA, with an initial manifestation of a skin rash known as blueberry muffin, most commonly associated with congenital infections or neonatal hematopoietic diseases. We report the case of a three-month boy, born to consanguineous parents, that was referred to our service for assessment of malnutrition, vomiting, fever, jaundice and hepatosplenomegaly. At birth, he presented a purpuric rash suggestive of Blueberry Muffin Baby Syndrome. A thorough investigation revealed increased excretion of urinary mevalonic acid and a single mutation in homozygosis in exon 10 of the MK gene, which confirmed the diagnosis of MA. Our clinical case brings out the first report that associates blueberry muffin rash and MA.

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“…Differential diagnosis of blueberry muffin lesions include congenital leukemia, neonatal neuroblastoma, congenital rhabdomyosarcoma, congenital langerhans' cell histiocytosis neonatal lupus erythematosus. [9] CONCLUSION The blueberry muffin baby has been associated historically with congenital viral infections and hematologic dyscrasias. However, the differential diagnosis of neonatal violaceous skin lesions should be expanded to include several neoplastic and vascular disorders as well.…”

Section: Histologicallymentioning

confidence: 99%