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

• Main Authors: Antoccia Antonio (Author), Ferrari Francesca (Author), Angelino Giulia (Author), Scarselli Alessia (Author), Folgori Laura (Author), Chessa Luciana (Author), Finocchi Andrea (Author)
• Format: Book
• Published: BMC, 2010-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1824-7288-36-29; 1720-8424; 1824-7288
• Keywords: Pediatrics; RJ1-570
• Source: Italian Journal of Pediatrics, Vol 36, Iss 1, p 29 (2010)

<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>