Cutaneous granulomas arising in a patient with ataxia telangiectasia

Abstract

Ataxia telangiectasia (AT) is an autosomal recessive primary immunodeficiency disorder characterised by progressive cerebellar ataxia and telangiectasia. Rarely, it has been associated with cutaneous granulomas, with only 18 such cases reported to date.1 The diagnosis of cutaneous granulomas can be challenging in the context of AT, likely due to the wide clinical heterogeneity, numerous possible differential diagnoses and limited literature. We report a case of predominantly nasal cutaneous granulomas in a 16-year-old female with AT treated with potent topical corticosteroid, infliximab and intravenous immunoglobulin. This regimen has shown progressive improvement in the skin lesions. This case highlights the importance of considering cutaneous granuloma in patients with primary immunodeficiency presenting with refractory and unusual skin lesions.L723041312016-06-29 <br />