Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report.
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.
Folgori
Laura
L
DPUO, Department of Pediatrics-University of Rome Tor Vergata/Children's Hospital Bambino Gesù, Rome. laura.folgori@gmail.com
Scarselli
Alessia
A
Angelino
Giulia
G
Ferrari
Francesca
F
Antoccia
Antonio
A
Chessa
Luciana
L
Finocchi
Andrea
A
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