Ataxia-telangiectasia revealed by cutaneous granulomatous lesions

Introduction. Idiopathic cutaneous granulomatous lesions are exceptionally described in the course of congenital immunodeficiency, including ataxia-te langiectasia. Case report. We describe a new case of a 28-month girl who presented granul omatous skin lesions revealing a previously unknown ataxia-telangiectasia i n the absence of typical neurologic signs, telangiectasia and infectious co mplications. The clinical aspect showed infiltrated erythemato-squamous pla ques and nodules predominating on the face and limbs. These lesions increas ed in number without remission. Histological examination revealed a nodular , lymphohistiocytic infiltration with granulomatous tendency in the deep de rmis and the hypodermis. Before the onset of skin treatment, the child deve loped an Epstein-Barr-virus related lymphoproliferation. Immunoglobulins an d oral corticosteroids associated with chemotherapy permitted the regressio n of the granulomatous lesions but not of the fatal spread of the lymphopro liferative syndrome. Discussion, These rare cutaneous manifestations are important to know becau se they can be the initial sign of an immunodeficiency. Clinical and histol ogical aspects are characteristic. They are eventually associated with visc eral granulomatous lesions. Physiopathology remains hypothetical. An abnorm al immune response to an undetermined antigenic stimulation could be suspec ted in this particular context. The question of a correlation between these lesions and a proliferative syndrome remains open.