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

lupus erythematosus chronic granulomatous disease CGD lymphocytic infiltrates basement membrane immunoglobulin complement deposits flow cytometry neutrophils topical corticosteroids respiratory burst activity lupus CGD steroids

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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