Track: Case Reports

Topic: Inflammatory Diseases

Abstract:

Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocyte function due to defective NADPH oxidase, predisposing individuals to infections from catalase-positive organisms. Granulomas typically involve the genitourinary system, gastrointestinal tract, and perirectal area. While much is known about the clinical presentation of CGD, the histopathological findings of cutaneous sites are limited. We report a case of a 28-year-old male who underwent a biopsy of a cutaneous 1 cm erythematous papulonodular furuncle of the left axilla. A similar lesion was noted on the chest but was not biopsied. The patient has a past medical history of CGD diagnosed based on right neck biopsy at 12 years old and previously treated with prophylactic TMP-SMX; Crohn's disease; and latent tuberculosis. Work-up included CBC, CMP, ESR, CRP, and serum 1,3-beta-D-glucan, all of which were within normal limits except for the serum 1,3-beta-D-glucan of 117 pg/mL (nl <80 pg/mL). Histologically, the lesion showed superficial and deep interstitial non-caseating granulomatous and perivascular inflammation of the dermis with foreign-body giant cells, abundant neutrophils, lymphocytes, rare eosinophils and histiocytes containing golden-yellow lipofuscin pigment. The lesion did not communicate with the epidermis, however, irregular epidermal hyperplasia with focal hyperkeratosis and minimal exocytosis was seen. Gram stain was positive for intra-histiocytic Gram-positive cocci. Other microbial stains (PAS, GMS, AFB) were negative. A diagnosis of CGD was favored. The wound culture grew Staphylococcus epidermidis, a catalase-positive organism, and chronic prophylactic antibiotics were started. We hope to contribute to the limited literature on the histopathological findings of CGD described in the skin.

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Daniel Mais, MD