Lupus Like Lesions in a Patient with X-Linked Chronic Granulomatous Disease and Recombinant X Chromosome

Abstract
Lupus-like lesions in X-linked chronic granulomatous disease (X-CGD) are rare. To our knowledge, only 2 cases have previously been published. We report a 2.5-year-old boy with X-CGD whose clinical findings were consistent with cutaneous lupus erythematosus. Conventional histopathology showed epidermal atrophy, parakeratosis, follicular plugging and areas of hydropic degeneration. The most striking feature was a neutrophilic interstitial infiltrate with leukocytoclasia in the upper dermis. The X chromosome of our patient--studied with 2 endonucleases (PstI and TaqI) and 5 probes (P99.6, pERT 87.8, pERT87.15, XJ1.1 and 754)--was recombinant, but we believe that this is an incidental finding, not related to the disease. Neutrophilic infiltrate and leukocytoclasia could be characteristic histopathologic findings of lupus-like lesions in these patients.