Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Autor: Manouvrier-Hanu, S., Puech, B., Piette, F., Boute-Benejean, O., Desbonnet, A., Duquesnoy, B., Farriaux, J.P.
Zdroj: American Journal of Medical Genetics. Part A; 19 March 1998, Vol. 76 Issue: 3 p217-221, 5p
Abstrakt: Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis. Am. J. Med. Genet. 76:217–221, 1998. © 1998 Wiley-Liss, Inc.
Databáze: Supplemental Index