Non-infectious skin manifestations in patients with Chronic Granulomatous Disease: A report of 4 cases

Abstract

BackgroundChronic granulomatous disease (CGD) is a monogenic inborn error of immunity caused by defects in the phagocytic NADPH oxidase complex. These defects lead to an increased risk of severe infection, autoimmunity, widespread granuloma formation and dysregulated inflammation. In individuals with CGD, immune dysregulation and autoimmune manifestations may impact almost every organ system with atypical dermatologic findings frequently reported. Case PresentationsHere we describe four cases of inflammatory skin lesions in patients with genetically confirmed CGD. Patient A is a 4-year-old male who presented with diffuse alopecia totalis preceded by a widespread skin eruption composed of polycyclic, annular, erythematous plaques and prominent facial erythema and edema. Whole exome sequencing was obtained due to concern for ectodermal dysplasia, which identified a variant in CYBB (CYBB c.901G>T; pVal301Phe). Patient B is a 4-year-old male with X-CGD (CYBB c.1016 C > A, p.Pro339His) who developed annular to polycyclic indurated red plaques on his face and arms. Patient C is a 19-year-old female with autosomal recessive CGD (NCF1 c.75_76delGT) and persistent hidradenitis suppurativa-like lesions in the axilla, inguinal areas, and popliteal fossa. Patient D is a 12-year-old female with autosomal recessive CGD (p47phox deficiency) and psoriasiform dermatitis of the scalp.Patient A had persistence of lesions that required chronic systemic corticosteroids and methotrexate. He underwent hematopoietic stem cell transplantation using a matched sibling donor with improvement in his dermatitis. Skin lesions in patient B resolved with the use of topical corticosteroids. Patient C improved with a combination of isotretinoin therapy and both intralesional and systemic corticosteroid treatment. Patient D had improvement in her psoriasiform dermatitis with topical corticosteroid solution and salicylic acid shampoo. ConclusionsThis case series expands our understanding of cutaneous non-infectious eruptions that can occur in patients with both X-linked and autosomal recessive forms of CGD. Each of these cases illustrates a unique clinical history, histologic findings and treatment plan in patients who developed cutaneous lesions secondary to immune dysregulation in the context of CGD. This series provides additional insights that may assist providers in identifying and managing non-infectious dermatologic manifestations of CGD.