["Pseudo-lupus" eruptions in a mother carrying X chromosome-linked chronic septic granulomatosis]

We report the case of a young woman whose son had X-linked chronic granulomatous disease (CGD) while she was gene transmitter and presented with erythematous-squamous dermatosis predominant in unprotected regions, photosensitivity and oral ulcerations. The diagnosis of discoid lupus erythematosus, suggested by the clinical complex, was not confirmed by paraclinical examinations. CGD is an X-linked or, less often, autosomal recessive disease underlain by a selective deficiency of intraleucocytic bactericidal ability. Its clinical manifestations are repeated and severe infections involving most of the body organs. A review of the literature yielded 20 cases resembling that of our patient; all concerned mothers or sisters of children with X-linked CGD. The skin disease usually begins during childhood. The authors describe cutaneous manifestations as a photosensitive infiltrating erythema, frequently suggestive of lupus erythematosus, and oral ulcerations. At light microscopy, these skin lesions show a lymphohistiocytic infiltrate which sometimes erodes the basement membrane or remains at a distance from it. Such images suggest lupus erythematosus or, for some authors, a Jessner-Kanoff syndrome or a lichenoid infiltrate. Direct immunofluorescence was negative in all but one case, and there was usually no laboratory evidence of autoimmunity. In women who transmit the X-linked form of the disease, the bactericidal activity of granulocytes is reduced by 50 p. 100, but infection is not a major problem. The pathogenesis of these disorders is not yet fully understood. However, we would like to draw attention to the studies by Roberts et al. who demonstrated a defective degradation of bacterial DNA by circulating monocytes in patients with systemic or discoid lupus erythematosus.(ABSTRACT TRUNCATED AT 250 WORDS)