Blue rash

Dermatological impact of a general disease

Dr. Emmanuelle Bourrat

Saint-Louis Hospital

The clinical case
Now it's your turn!
Co-prescription and advice

Clinical case presentation

A 2-month-old infant with no prior medical history was seen for the onset of stereotyped cutaneous flares consisting of violaceous macules on the legs and face, possibly painful (occurring concomitantly with unusual crying), without fever or alteration of general condition. Between flares, only a few residual bluish macules persisted.

Laboratory workup (CBC with platelets, renal and liver function tests, complete coagulation studies) and Doppler ultrasound performed to look for an underlying vascular malformation were normal.

The skin biopsy, which was complicated by hemorrhagic bleeding requiring packed red blood cell transfusion, was nonspecific. History taking revealed congenital marked facial ecchymoses that had been attributed to a difficult (dystocic) delivery.

Your turn

What is your diagnosis?

Select 1 answer(s) from the following choices:

A “blueberry muffin baby”

Multiple vascular malformations

Child abuse

Hemophilia

A platelet function disorder

Wrong answer!

Good answer!

Final diagnosis

The history of congenital bleeding with an initially normal coagulation workup suggests the diagnosis of an inherited platelet function disorder.

Additional investigations at a specialized laboratory showed prolonged bleeding time with complete GPIIb/IIIa deficiency, leading to the diagnosis of Glanzmann thrombasthenia.

This is an autosomal recessive platelet function disorder with a variable prognosis, ranging from a few ecchymoses to severe mucosal hemorrhage.

Explanation of the incorrect answers

“Blueberry muffin baby” owes its name to its clinical appearance: small, fixed, multiple violaceous papules present at birth, which are the cutaneous manifestation of extramedullary hematopoiesis. The main causes are maternal-fetal infections (rubella, CMV, etc.), neonatal leukemia and histiocytosis. These lesions typically occur in a severe clinical context and do not resolve spontaneously without specific treatment.
Vascular malformation is ruled out by Doppler ultrasound.
Hemophilia is ruled out by a normal complete coagulation workup (coagulation tests would be abnormal in hemophilia).
Child abuse must always be considered in the presence of unusual skin lesions, but remains a diagnosis of exclusion.

Treatment

Management is based on the administration of hemostatic agents and, if necessary, recombinant factor VII in cases of high-risk procedures or bleeding.

Expert's message

In any ecchymotic presentation in an infant, it is important to complete the coagulation workup with a bleeding time (performed in a specialized laboratory) in order not to overlook a platelet function disorder (platelet dysfunction).

References:

^{A rare case of bleeding disorder: Glanzmann’s thrombasthenia.}