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

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Author(s): Folgori Laura | Scarselli Alessia | Angelino Giulia | Ferrari Francesca | Antoccia Antonio | Chessa Luciana | Finocchi Andrea

Journal: The Italian Journal of Pediatrics
ISSN 1720-8424

Volume: 36;
Issue: 1;
Start page: 29;
Date: 2010;
Original page

ABSTRACT
Abstract 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 ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children. 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. 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.
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