Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

• Main Authors: Antoccia Antonio, Ferrari Francesca, Angelino Giulia, Scarselli Alessia, Folgori Laura, Chessa Luciana, Finocchi Andrea
• Format: Article
• Language: English
• Published: BMC 2010-04-01
• Series: Italian Journal of Pediatrics
• Online Access: http://www.ijponline.net/content/36/1/29

<p>Abstract</p> <p>Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the <it>ataxia-telangiectasia mutated </it>(<it>ATM</it>) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.</p> <p>We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.</p> <p>A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.</p>