Skin Manifestations in Adults With Chronic Granulomatous Disease in the United Kingdom.

Abstract

Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by mutations affecting individual components of the nicotinamide adenine dinucleotide phosphate oxidase complex. Resultant defective neutrophil function leads to infectious and inflammatory complications, resulting in reduced quality of life and survival. Although hematopoietic stem cell transplantation is a curative option, a significant proportion of patients are managed conservatively into adulthood. Skin manifestations are common in patients with uncorrected CGD but are poorly documented with no existing treatment guidelines. To document skin disease and response to treatment in adults with uncorrected CGD. We conducted a retrospective review in a large cohort of adults with CGD conservatively managed at a single center in a joint Immunology/Dermatology clinic. Clinical, photographic, histological, and treatment data were collected to assign distinct skin diagnoses and assess response to treatment. Thirty-four of 50 patients with X-linked or autosomal recessive CGD had skin involvement, typically with more than 1 skin diagnosis. Pustular eruptions, seborrheic dermatitis, rosacea, and skin infections were most commonly seen. Mucocutaneous lupus, OROFACIAL granulomatosis, and other predominantly inflammatory diagnoses were seen in a smaller subset. Culture was positive in only 32.5% of the tests, even from pustular lesions. Typically, skin disease was difficult to treat with variable responses to treatment and frequent relapses. A broad range of skin manifestations are seen in adults with CGD. It remains unclear to what extent CGD skin disease is contributed to by infection and/or an excessive inflammatory response, for example, to skin microorganisms. Prolonged and intensive therapy is often required.