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

Laura Folgori, Alessia Scarselli, Giulia Angelino, Francesca Ferrari, Antonio Antoccia, Luciana Chessa, Andrea Finocchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number29
JournalItalian Journal of Pediatrics
Volume36
Issue number1
DOIs
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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