ABSTRACT
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.
Subject(s)
Arthritis/pathology , Exanthema/pathology , Granuloma/pathology , Iritis/pathology , Adolescent , Adult , Arthritis/genetics , Blindness/genetics , Child , Child, Preschool , Chromosomes, Human, Pair 16 , Exanthema/genetics , Female , Fetal Growth Retardation , Genotype , Granuloma/genetics , Humans , Infant , Iritis/genetics , Male , Pedigree , Sarcoidosis/pathology , Syndrome , Synovitis/genetics , Synovitis/pathology , Twins, MonozygoticABSTRACT
OBJECTIVES: To assess the vascular involvement in labial salivary gland (LSG) from patients with rheumatoid vasculitis (RV). METHODS: Forty seven patients with rheumatoid arthritis (RA) took part in a prospective study. Among them, 12 had proven RV. LSG biopsy was performed after local anaesthesia. RESULTS: Histological appearance of inflammatory vascular damage was observed in all but one patient with proven RV (92%). Inflammatory vascular involvement was also identified in LSG biopsy of seven patients with RA (20%) and only one patient in the control group (8%). A second specimen of LSG was studied after a mean treatment period of six months and failed to show any feature of inflammatory vascular involvement in three of the five cases that were analysed. CONCLUSIONS: The study emphasises the high incidence of immunopathological features of microvascular damage in patients with RV. LSG biopsy is minimally invasive and may be a potential useful tool for the diagnosis of RV especially when skin lesions are absent or impossible to biopsy. The assessment of the predictive value of positive LSG biopsy in RA requires a long term prospective study.
