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


  • The first two authors contributed equally to this work, and should be considered joint first authors.

  • Conflict of interest: none declared.

Dr Lynette Low, Department of Dermatology, St Mary’s Hospital, Mint Wing A Praed Street, London W2 1NY, UK


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.