We present the case of a 13 year old girl who presented with spontaneous, recurrent and painful soft tissue swellings affecting her extremities. On several occasions the degree of swelling and pain was enough to consider compartment syndrome. To date she has required ten fasciotomies. On two occasions she has also had haematuria.
Baseline biochemical, haematological and radiological investigations were normal with no cause for symptoms identified. Skin biopsy showed no evidence of vasculitis. She underwent further extensive national investigations, including genetic testing for Type 4 Ehlers-Danlos syndrome. No pathological cause for purpura was found. Non-accidental and self inflicted injury were carefully considered, and excluded.
Following wide-ranging investigations and on review of her complex presentation she was diagnosed with Gardner-Diamond Syndrome (psychogenic purpura, autoerythrocyte sensitisation syndrome).
Gardner-Diamond Syndrome is a rare condition characterised by onset of spontaneous ecchymotic and painful lesions. The aetiology is not well understood but emotional stress is felt to be most common trigger for symptoms. Routine coagulation investigations are normal and the diagnosis is made clinically. It is therefore a diagnosis of exclusion.
This interesting case highlights a rare cause of painful purpura. A high index of suspicion was necessary to make the diagnosis. Numerous medical treatments have been trialled without any clear benefit. In this case, early administration of DDAVP has been beneficial in decreasing the progression of bruising, although the mechanism remains unclear. Other cases have also reported some improvement in symptoms following psychotherapy once the underlying cause of emotional stress has been identified.
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