title: Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.
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.
authors.affiliation: DPUO, Department of Pediatrics-University of Rome Tor Vergata/Children's Hospital Bambino Gesù, Rome. laura.folgori@gmail.com
authors.forename: Laura
authors.initials: L
authors.lastname: Folgori
authors.forename: Alessia
authors.initials: A
authors.lastname: Scarselli
authors.forename: Giulia
authors.initials: G
authors.lastname: Angelino
authors.forename: Francesca
authors.initials: F
authors.lastname: Ferrari
authors.forename: Antonio
authors.initials: A
authors.lastname: Antoccia
authors.forename: Luciana
authors.initials: L
authors.lastname: Chessa
authors.forename: Andrea
authors.initials: A
authors.lastname: Finocchi
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D018450:Disease Progression; D006099:Granuloma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000175:diagnosis; D012871:Skin Diseases / Q000150:complications* / Q000175:diagnosis