ADA2 DEFICIENCY

By Gary M. White, MD


ADA2 Deficiency (adenosine deaminase 2) is the combination of polyarteritis nodosa-like lesions, fever and early onset strokes in a child. The cause appears to be a recessively inherited mutation in CECR1 (cat eye syndrome chromosome region, candidate 1), encoding adenosine deaminase 2 (ADA2).

Clinical

Cutaneous manifestations include livedo racemosa, inflammatory nodules, ulcers, Raynaud's phenomenon, and digital necrosis.

References

A 5-month-old girl presents with a stroke. Soon after, she develops red, tender papules and nodules on the trunk and extremities. Throughout childhood, she experiences intermittent fevers, as often as 3-4 times a week. On exam, as a young adult, she has erythematous, reticular, livedo changes. JAAD 2016;75;449

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa JAMA Derm 2015;151;1230; Online First Case Report/Case Series | July 01, 2015

Biopsy showed features consistent with PAN. Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa JAMA Derm 2015;151;1230; Online First Case Report/Case Series | July 01, 2015

RegionalDerm

Homepage | FAQs | Use of Images | Contact Dr. White


It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.