An Uncommon Feature of Chronic Granulomatous Disease in a Neonate

Abstract

Chronic Granulomatous Disease (CGD) represents recurrent life-threatening bacterial and fungal infections and granuloma formation with a high mortality rate. CGD's sign and symptoms usually appear in infancy and children before the age of five; therefore, its presentation in neonatal period with some uncommon features may be easily overlooked. Here we describe a case of CGD in a 24-day-old boy, presenting with a diffuse purulent vesiculopustular rash and multiple osteomyelitis.

Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study

“…Granulomatous skin lesions are a rare, but well-recognized manifestation of primary immunodeficiency diseases (PIDs) and affect first of all patients with disturbed B and T cell compartments in A-T [ 12 , 13 ], with the vast majority occurring in three diseases, namely A-T, common variable immunodeficiency (CVID) and severe combined immunodeficiency (SCID) with the first two diseases each being responsible for more than 30% of the cases [ 14 ]. However, granulomatous skin disease was also observed in a variety of PIDs, namely in syndromes associated with combined immunodeficiencies, such as Nijmegen breakage syndrome (NBS) [ 15 – 17 ] and Wiskott-Aldrich syndrome [ 18 ], severe combined immunodeficiencies due to RAG (Recombination Activation gene) deficiency [ 19 ], JAK3 (Janus kinase 3) deficiency [ 20 ], and Artemis deficiency [ 21 ], HLA class I deficiency syndrome [ 22 ], deficiencies of the innate immunity, namely chronic granulomatous disease [ 23 ] and chronic autoinflammatory disorders, such as Blau syndrome [ 24 ].…”

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

“…Blood culture confirmed the presence of S. aureus infection. Finally, Afrough et al [38] described a 24-day-old male CGD patient with vesiculopustular rash in the periorbita, genitalia, foot, and sacroiliac regions. Gram-positive cocci were seen in a direct smear from skin lesions and culture was positive for S. aureus .…”