Blueberry muffin baby

Blueberry muffin baby, also known as extramedullary hematopoiesis, describes a newborn baby with multiple purpura, associated with several non-cancerous and cancerous conditions in which extra blood is produced in the skin. The bumps range from one to seven mm, do not blanch and have a tendency to occur on the head, neck and trunk. They often fade by three to six weeks after birth, leaving brownish marks. When due to a cancer, the bumps tend to be fewer, firmer and larger.

Blueberry muffin baby
A newborn baby with typical lesions of a blueberry muffin baby.
SpecialtyPediatrics, dermatology
SymptomsReddish-blue purpura localized mainly to the face, neck, and trunk
CausesCongenital rubella, congenital CMV, other TORCH infections, blood disorders, and malignancies
Diagnostic methodBlood tests for complete blood count, TORCH infections, haemoglobin, viral cultures and Coombs test, skin biopsy
Differential diagnosisHemangiopericytoma, blue rubber bleb nevus, hemangioma, glomangioma
PreventionMMR vaccine covers for congenital rubella
FrequencyUncommon

The condition can occur following infection of an unborn baby with rubella, cytomegalovirus, toxoplasmosis, or coxsackie virus. Other viral causes include parvovirus B19 and herpes simplex. Non-infectious causes include haemolytic disease of the newborn, hereditary spherocytosis, twin-to-twin transfusion syndrome and recombinant erythropoietin administration. Some types of cancers can cause it such as rhabdomyosarcoma, extrosseal Ewing sarcoma, Langerhans cell histiocytosis, congenital leukaemia and neuroblastoma. During normal development of an unborn baby, blood production can occur in the skin until the fifth month of pregnancy. Blueberry muffin lesions in the newborn indicate the prolongation of skin blood production after birth.

Diagnosis involves a combination of appearance and laboratory studies, including blood tests for complete blood count, TORCH infections, haemoglobin, viral cultures and Coombs test. A skin biopsy may be useful. Conditions that may appear similar include hemangiopericytoma, blue rubber bleb nevus, hemangioma and glomangioma.

Prognosis is variable based upon the cause of the characteristic rash. Treatment may include supportive care, anti-viral medication, transfusion, or chemotherapy depending on the underlying cause.

It is not common. The term was coined in the 1960s to describe the skin changes in babies with congenital rubella. Since then, it has been realised that blueberry muffin marks occur in several conditions.

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