| Autor: |
Brandrup, Flemming, Koch, Christian, Petri, Michael, Schiødt, Morten, Johansen, Kirsten Stæhr |
| Předmět: |
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| Zdroj: |
British Journal of Dermatology; May1981, Vol. 104 Issue 5, p495-505, 11p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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