No abstract

We report on a mother and son who were affected with split hand‐split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic nails. Their hair was wiry, brownish, and slow‐growing. Scanning electron micrography of their scalp hair showed hypoplastic hair bulbs, partial loss of hair cuticles, and frayed hair shafts. The son was affected with amelogenesis Imperfecta (hypocalcification, hypoplasia, and hypomaturation types), in the primary and permanent dentition. An unerupted supernumerary maxillary second premolar and fusion of mandibular incisors were observed in the primary dentition and their permanent successors. Mutation analysis showed a c.588‐2A > C mutation in TP63 in the mother and her son. It is predicted that an alternative splice site was used, specifically the AG located just three nucleotides upstream. Use of this site is predicted to include three extra nucleotides in the transcript and thus incorporation of a single extra amino acid (p.Thr195_Tyr196insPro). This is the first time that amelogenesis imperfecta, fusion of teeth, and a supernumerary premolar have been shown to be associated with a TP63 mutation. © 2011 Wiley Periodicals, Inc.

Objective To determine which clinical, laboratory and imaging features most accurately distinguished gout from non-gout. Methods A cross-sectional study of consecutive rheumatology clinic patients with at least one swollen joint or subcutaneous tophus. Gout was defined by synovial fluid or tophus aspirate microscopy by certified examiners in all patients. The sample was randomly divided into a model development (2/3) and test sample (1/3). Univariate and multivariate association between clinical features and MSU-defined gout was determined using logistic regression modelling. Shrinkage of regression weights was performed to prevent over-fitting of the final model. Latent class analysis was conducted to identify patterns of joint involvement. Results In total, 983 patients were included. Gout was present in 509 (52%). In the development sample (n=653), these features were selected for the final model (multivariate OR) joint erythema (2.13), difficulty walking (7.34), time to maximal pain < 24 hours (1.32), resolution by 2 weeks (3.58), tophus (7.29), MTP1 ever involved (2.30), location of currently tender joints: Other foot/ankle (2.28), MTP1 (2.82), serum urate level > 6 mg/dl (0.36 mmol/l) (3.35), ultrasound double contour sign (7.23), Xray erosion or cyst (2.49). The final model performed adequately in the test set with no evidence of misfit, high discrimination and predictive ability. MTP1 involvement was the most common joint pattern (39.4%) in gout cases. Conclusion Ten key discriminating features have been identified for further evaluation for new gout classification criteria. Ultrasound findings and degree of uricemia add discriminating value, and will significantly contribute to more accurate classification criteria.

Objectives To examine the performance of ultrasound for the diagnosis of gout using presence of monosodium urate (MSU) crystals as the gold standard. Methods We analyzed data from the Study for Updated Gout Classification Criteria (SUGAR), a large, multi-center observational cross-sectional study of consecutive subjects with at least one swollen joint who conceivably may have gout. All subjects underwent arthrocentesis; cases were subjects with MSU crystal confirmation. Rheumatologists or radiologists, blinded to the results of the MSU crystal analysis, performed ultrasound on one or more clinically affected joints. Ultrasound findings of interest were: double contour sign (DCS), tophus, and ‘snowstorm’ appearance. Sensitivity, specificity, positive and negative predictive values (PPV and NPV) were calculated. Multivariable logistic regression models were used to examine factors associated with positive ultrasound results among subjects with gout. Results Ultrasound was performed in 824 subjects (416 cases and 408 controls). The sensitivity, specificity, PPV and NPV for the presence of any one of the features were 76.9%, 84.3%, 83.3% and 78.1% respectively. Sensitivity was higher among subjects with disease ≥2 years duration and among subjects with subcutaneous nodules on exam (suspected tophus). Associations with a positive ultrasound finding included suspected clinical tophus (odds ratio 4.77; 95% CI 2.23–10.21), any abnormal plain film radiograph (4.68; 2.68–8.17) and serum urate (1.31; 1.06–1.62). Conclusions Ultrasound features of MSU crystal deposition had high specificity and high positive predictive value but more limited sensitivity for early gout. The specificity remained high in subjects with early disease and without clinical signs of tophi.