S068 - Skinternal Medicine: An Update on Cutaneous Manifestations of Systemic Disease

In this presentation led by Kanadi Shinkai, a case study of a man in his 30s with cutaneous manifestations of systemic disease was discussed. The patient presented with multifocal rashes, oral symptoms such as cheilitis and gingival hypertrophy, and a significant medical history including recurrent skin abscesses and GI issues like alternating diarrhea and constipation. Initial biopsies suggested psoriasis, but further analysis revealed granulomatous inflammation, raising the suspicion of chronic granulomatous disease (CGD) and inflammatory bowel disease (IBD), particularly Crohn's disease. The panel explored the complex interplay between CGD and IBD, noting that patients with CGD often exhibit subclinical inflammation and a high prevalence of IBD. The diagnostic process involved multiple consultations, leading to the identification of an NCF1 mutation indicative of CGD. The final diagnosis was broad, encompassing CGD with IBD features, with cutaneous findings likely representing overlaps between the two conditions. The case emphasized the need for an integrated approach to diagnosing complex presentations and highlighted gaps in understanding the dermatological manifestations of IBD and immune deficiencies.