TABLE 1: Description of the four disease classes associated with the development of digital dermatitis (Dopfer 1994

Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis characterized by skin fibrofolliculomas and an increased risk of spontaneous pneumothorax, renal and possibly other tumors. A causative gene (FLCN) on chromosome 17p has recently been identified. We here report clinical and genetic studies of 20 BHD families ascertained by the presence of multiple fibrofolliculomas or trichodiscomas in the proband. Pathogenic FLCN germline mutations were found in 11 (69%) of 16 probands tested and in 14 family members. Six different FLCN germline mutations were detected, four of which have not been reported previously. The clinical features were variable. None and less than 10 skin lesions were observed in two mutation carriers at the age of 67 and 29 years, respectively. Spontaneous pneumothorax was reported in four and renal carcinoma of mixed histological types in two of 36 BHD-affected individuals and/or FLCN mutation carriers. Both the prevalence of spontaneous pneumothorax and renal tumors appeared to be relatively low compared with previously reported data. Various other extracutaneous tumors were observed in 11 of 36 BHD-affected individuals and/or FLCN mutation carriers. This study of the second largest cohort to date contributes to the expanding data on the variable phenotype and underlying gene defects in BHD.

In this study, the usefulness was assessed of para-phenylenediamine (PPD) base as a marker for contact allergy to para-compounds and disperse dyes. 59 patients with a positive reaction to PPD were patch tested with a series of para compounds and disperse dyes. This dyes series was also tested in patients with a suspect medical history of contact allergy to hair, fabric or leather dyes. In total 610 patients were tested. As 24 patients became positive over the weekend, late readings, day 6 or 7, are important. These reactions were most probably relevant in 17/24 patients. Positive reactions to PPD correlated well with reactions to para compounds like p-aminoazobenzene and p-toluenediamine sulphate but not with disperse dyes. Reactions to Disperse Blue (106, 124) and Orange (1 and 3) were seen most frequently. PPD is a good screening agent for hair dye, but not for disperse dye, sensitivity.

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Purpose Uveal melanoma (UM) is the most frequently occurring intraocular malignancy in adults. UM has a strong tendency to metastasize to the liver. There are no effective therapies for metastatic disease resulting in a tumour‐related death in about 45% of UM patients within 15 years after the initial diagnosis. Monosomy of chromosome 3 is the most frequent found chromosomal aberration in UM and is predominantly found in metastasizing tumours. Chromosome 3 losses can be detected by karyotyping, FISH or DNA based techniques as QPCR/MLPA and Array CGH. We use a combination of FISH and SNP arrays to select patients for a dendritic cell therapy trial. Recently, inactivating somatic mutations were identified in the gene encoding BRCA1‐associated protein 1 (BAP1) on chromosome 3p21.1 in metastasizing tumours. In a retrospective series of UMs we will determine the sensitivity and specificity of mutations in BAP1 and compare these with the currently used predictive standard of monosomy. Methods We will use targeted multiplexed Next Generation Sequencing to determine mutations in the BAP1 gene. Results Our results will follow shortly. Conclusion Conclusions will be drawn when all the results are known.