Introduction Causes Symptoms and signs Management Treatment and prognosis
‘Blueberry muffin syndrome’ is the descriptive term used for an infant born with multiple blue/purple marks or nodules in the skin. These are due to the presence of clusters of blood-producing cells in the skin (extramedullary erythropoiesis), or bleeding into the skin (purpura), or spreading cancer (metastases).
There are many underlying causes that need to be considered when a baby presents with blueberry muffin syndrome. These include:
Tumours such as:
Blood disorders such as:
Congenital infections such as:
The TORCH complex is a medical acronym used for these serious congenital infections: Toxoplasmosis, Other infections, Rubella, Cytomegalovirus, Herpes simplex virus. The other infections are hepatitis B, coxsackie virus, syphilis, varicella-zoster virus and parvovirus/erythrovirus B19.
Frequently there may be associated anaemia and enlargement of the liver and spleen (hepatosplenomegaly).
Infants with congenital infection may show other features such as:
The investigation and management of an infant with blueberry muffin syndrome often involves many specialists:
Investigations may include:
The treatment and prognosis depends upon the underlying cause.
