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Discoid lupus erythematosus‐like lesions and stomatitis in female carriers of X‐linked chronic granulomatous disease
Author(s) -
BRANDRUP FLEMMING,
KOCH CHRISTIAN,
PETRI MICHAEL,
SCHIØDT MORTEN,
JOHANSEN KIRSTEN STÆHR
Publication year - 1981
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1981.tb08163.x
Subject(s) - chronic granulomatous disease , medicine , stomatitis , dermatology , lupus erythematosus , granulomatous disease , systemic disease , immunology , disease , pathology , antibody
SUMMARY The skin and oral mucosa were studied in an unselected series of carriers of X‐linked chronic granulomatous disease, a hereditary condition in which phagocytic cells display a pronounced functional defect. Three carriers had discoid lupus erythematosus (DLE)‐like skin lesions which histopathologically were consistent with DLE of the hypertrophic and profundus type. Four patients had experienced photosensitivity in childhood. Seven patients had recurrent aphthous‐like stomatitis which should be distinguished from the recurrent aphthous stomatitis seen in otherwise healthy individuals. The remarkably high incidence of DLE‐like symptoms in heterozygous carriers might be related to the presence of mixed populations of defective and normal phagocytes. The variable expression of skin symptoms may be related to uneven distribution of abnormal to normal phagocytes. Female patients with these clinical symptoms, especially the combination of DLE‐like skin lesions and aphthous‐like stomatitis, should be suspected of being carriers of chronic granulomatous disease and studies of phagocyte function in vitro should be performed, since the diagnosis of the carrier state is of utmost importance for genetic counselling before pregnancy. In order to describe in greater detail the clinicopathological findings and their frequency of expression in the skin and oral mucosa, we have undertaken a prospective study of nine unselected known carriers of X‐linked CGD.