Lupus Erythematosus-Like Lesions in a Carrier of X-Linked Chronic Granulomatous Disease: A Case Report and Personal Considerations

    March 2004 in “ International Journal of Dermatology ”
    Caterina Foti, Nicoletta Cassano, Baldassarre Martire, Raffaele Filotico, Valentina Mastrandrea, Gino Antonio Veña
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    TLDR A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
    In 2004, a 46-year-old female carrier of X-linked chronic granulomatous disease (CGD) was reported to have developed lupus erythematosus-like skin lesions. Despite her family history and personal health issues, she was not on any medication, and her lab tests did not show the typical signs of lupus. A biopsy showed lymphocytic infiltrates and a thickened basement membrane, but no immunoglobulin or complement deposits. Flow cytometry confirmed her CGD carrier status, with 30% of her neutrophils functioning normally. Her skin condition improved with topical corticosteroids and remained less severe after 18 months. The case highlighted the possibility of a distinct dermatosis in CGD carriers and the importance of considering respiratory burst activity defects in women with similar symptoms, while also being vigilant for the development of lupus erythematosus.
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