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Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2
Eugene Liat Hui Ong1, Samantha Cooray2, Paul Brogan2
1Dermatology Department, St George's Hospital, London.
Abstract:
Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive monogenic autoinflammatory syndrome that is classically characterised by polyarteritis nodosa, systemic vasculitis and stroke. The spectrum of disease manifestations has broadened to encompass a range of cutaneous, vascular and haematological manifestations. We report a novel association in two sisters with heterozygous p.R169G/p.M309l mutations in ADA2 with low serum ADA2 activity who both presented similarly with clinical and histological features consistent with histiocytoid Sweet syndrome.
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