P102 Cutaneous noninfectious manifestations of chronic granulomatous disease: a prospective study

Dermatological manifestations in chronic granulomatous disease (CGD) include skin infections and sterile cutaneous inflammatory lesions. The objective of this study was to assess the clinical and histopathological features of noninfectious skin lesions in patients with CGD. This was a cross-sectional observational study from January 2022 to June 2023, carried out at a tertiary care centre. Forty-eight patients with CGD who were registered in the paediatric immunology clinic were screened for cutaneous noninfectious lesions during their routine follow-up. We describe the frequency of cutaneous noninfectious lesions among patients with CGD, along with their clinicodemographic and histopathological features. Noninfectious inflammatory skin lesions were present in 11 of 48 (23%) patients with vCGD. The mean age of this cohort (n = 11) was 19.8 years (SD 5.2). Centrofacial papulopustular lesions and erythematous infiltration involving the nose and the perinasal area (nose sign) were observed in 5 of 11 patients. Five patients presented with yellowish-orange, discrete, papular lesions involving the face and trunk, mimicking acne-like eruptions. Two patients had lesions of hidradenitis suppurativa. Histopathological examination revealed ill-formed granulomas with a mixed inflammatory infiltrate in the patients with facial lesions, while three patients with acneiform eruptions showed well-formed granulomas. The median age at onset of symptoms of CGD (48 vs. 7 months, P = 0.005; difference between groups 35 months, 95% confidence interval 12–78) and the median age at diagnosis of CGD (150 vs. 48 months, P = 0.008, difference between groups 72 months, 95% confidence interval 22–132) were significantly higher in patients with CGD who developed noninfective, inflammatory skin lesions compared with those without such skin lesions. The proportion of patients with NCF1 mutation was significantly higher in patients with noninfective inflammatory skin lesions (73% vs. 27%, P = 0.011). No correlation was seen between the type of skin manifestation and pathogenic mutation. In conclusion, inflammatory noninfectious cutaneous lesions can occur in CGD in the form of perinasal infiltrated papules and pustules (nose sign), as well as acne­iform lesions, and can be clues towards clinical diagnosis.