Autosomal recessive chronic granulomatous disease presenting with cutaneous dermatoses and ocular infection

Low LC, Manson AL, Hardman C, Carton J, Seneviratne SL, Ninis N.
Clin Exp Dermatol. 2012 May 21. doi: 10.1111/j.1365-2230.2012.04392.x. 

Source
Departments of Dermatology Clinicial Immunology Histopathology Paediatrics, St Mary's Hospital, London, UK.
Abstract
Summary Dermatoses such as eczematous dermatitis and cutaneous infection are recognized presentations of primary immunodeficiency (PID). However, atopic dermatitis affects approximately 10% of infants, and cutaneous infections are not uncommon in children, therefore the challenge for the dermatologist is to distinguish the few patients that have PID from the many that do not. We report on a 6-year-old girl who was ultimately diagnosed with autosomal recessive chronic granulomatous disease (AR-CGD) after presenting to various hospitals with dermatitis, scalp plaques recalcitrant to treatment, and recurrent infections over a 3-year period, and describe some aspects of her diagnosis and management. This report highlights the importance of considering rare disorders such as AR-CGD in the differential diagnosis of recurrent or recalcitrant dermatological infections in children.