The dermatosis of chronic granulomatous disease

Abstract

A family with X-linked cytochrome-negative chronic granulomatous disease (CGD) involving three generations is reported. The diagnosis of CGD in both the latest male patient and the index male was confirmed by marked impairment in polymorphonuclear leucocyte oxidative burst activity in association with absence of both subunits of cytochrome b. The two female carriers have suffered from chronic inflammatory skin disorders characterized by slowly fluctuating erythematous plaques. The reported cases are discussed in the context of a literature review of the dermatosis of CGD.

Histopathological features of chronic granulomatous disease (CGD) in childhood

“…In addition, in this series fistula tracts demonstrating either granulomatous or non‐specific inflammatory changes represented a significant component of the cutaneous pathology. Interestingly, there are also several reports of female carriers of X‐linked CGD who have developed chronic lupus‐like inflammatory skin disorders with a non‐specific lymphohistiocytic papillary infiltration but without abscess formation or granulomas, suggesting that the immune response may be modified in such individuals even in the absence of clinically manifest immunodeficiency 9–11 . Urological abnormalities occur in about 40% of patients with CGD, manifest as ureteral strictures, bladder granulomas, eosinophilic cystitis, urinary tract infections and even renal involvement 12,13 .…”

Noninfectious Manifestations and Complications of Chronic Granulomatous Disease

“…In the CGD registry maintained by the NIH, 10% of the patients had an autoimmune complication beyond IBD [ 33 ]. Additional reported rheumatologic conditions in patients with CGD include Raynaud phenomenon [ 34 ], lymphadenopathy, stomatitis [ 35 ], and aphthous ulcers with cutaneous lesions that mimic Behçet disease [ 36 ]. Patients with CGD also seem to be at increased risk of developing hemophagocytic lymphohistiocytosis [ 37 ].…”

“…A similar French cohort had an ~10% prevalence of skin complications, including granulomatous acne, inflammatory nodular lesions, and photosensitivity [ 22 ]. In addition, aphthous stomatitis and cutaneous lymphocytic infiltration [ 44 ] have been noted in association with CGD [ 34 ]. The contemporary USIDNET cohort includes 120 (23%) patients with a dermatologic inflammatory diagnosis ( Supplementary Table 5 ), most commonly acne and eczema.…”

Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease—Report of Two Cases and Review of the Literature

“…In addition to greater susceptibility to infection, patients with CGD are also predisposed to a variety of inflammatory and autoimmune conditions . Discoid lupus erythematosus ( DLE ) without other organ involvement has been observed, mostly in female carriers of X‐linked CGD , with fewer reports of these lesions in affected individuals . This apparent greater risk of DLE in carriers and some affected individuals is unexplained.…”