Brooke-Spiegler Syndrome with Multiple Scalp Cylindromas and Bilateral Parotid Gland Adenomas

A 62-year-old female presented with numerous soft tissue lesions of her scalp and bilateral preauricular region. Several of these have been biopsied or removed with a diagnosis of cylindromas. Cylindromas are benign tumors with a differentiation towards apocrine sweat glands that increase in number and size throughout life. Multiple scalp cylindromas may coalesce and cover the entire scalp, resulting in the “turban tumor.” These are often associated with the autosomal dominant Brooke-Spiegler syndrome with coexistent facial trichoepitheliomas and spiradenomas. There is a very rare association between cylindromas and basal cell adenoma and adenocarcinoma of the parotid gland, with only 17 reported cases. Ours is the first CT demonstration of both the scalp and parotid gland findings in this uncommon situation

The current clinical practice of pharmacogenetic testing in Europe: TPMT and HER2 as case studies

The clinical use of pharmacogenetics has so far been overestimated with only a few practical applications currently available. To explore the reasons of this so far limited access to the clinical practice, we have undertaken a survey on the use of tests for the Human Epidermal Growth Factor Receptor 2 (HER2)-overexpression and Thiopurine Methyltransferase (TPMT)-activity in four European countries (UK, Ireland, Netherlands and Germany). The objective of this survey was twofold: to gain insight into the current clinical practice of pharmacogenetics in Europe, and to reveal the factors that influence the implementation of pharmacogenetics in healthcare. From the results it is clear that none of the tests are fully implemented, though HER2 testing is far more widely used than TPMT-activity testing. Barriers to implementation have been identified in the complexity of sample handling and storage, high costs, unclear clinical utility and lack of specialized education, as well as difficult reimbursement. No negative patient response was perceived for either test.JRC.J.5-Agriculture and Life Sciences in the Econom