Evaluation of Immunophenotypic and Molecular Biomarkers for Sézary Syndrome Using Standard Operating Procedures: A Multicenter Study of 59 Patients.

Differentiation between Sézary syndrome and erythrodermic inflammatory dermatoses can be challenging, and a number of studies have attempted to identify characteristic immunophenotypic changes and molecular biomarkers in Sézary cells that could be useful as additional diagnostic criteria. In this European multicenter study, the sensitivity and specificity of these immunophenotypic and recently proposed but unconfirmed molecular biomarkers in Sézary syndrome were investigated. Peripheral blood CD4(+) T cells from 59 patients with Sézary syndrome and 19 patients with erythrodermic inflammatory dermatoses were analyzed for cell surface proteins by flow cytometry and for copy number alterations and differential gene expression using custom-made quantitative PCR plates. Experiments were performed in duplicate in two independent centers using standard operating procedures with almost identical results. Sézary cells showed MYC gain (40%) and MNT loss (66%); up-regulation of DNM3 (75%), TWIST1 (69%), EPHA4 (66%), and PLS3 (66%); and down-regulation of STAT4 (91%). Loss of CD26 (≥80% CD4(+) T cells) and/or CD7 (≥40% CD4(+) T cells) and combination of altered expression of STAT4, TWIST1, and DNM3 or PLS3 could distinguish, respectively, 83% and 98% of patients with Sézary syndrome from patients with erythrodermic inflammatory dermatoses with 100% specificity. These additional diagnostic panels will be useful adjuncts in the differential diagnosis of Sézary syndrome versus erythrodermic inflammatory dermatoses.

Guess what! Multiple pilomatricomas and Steiner disease.

An 18-year-old male adolescent was referred to our department for the presence of multiple skin nodules since the age of 9 years. At the age of 22 months the patient was diagnosed as having myotonic dystrophy (Steinert's disease). So far, nine lesions like these have been excised and histologically analysed, two located on the left arm, one on the neck and one on the scalp. A skin examination revealed three nodular lesions, two localised on the scalp (Fig. 1) and one on the trunk (Fig. 2); the lesions ranged from 0.5 to 3.5 cm, and were hard on palpation and asymptomatic, with elevated, smooth and teleangiectatic borders and a central invagination filled with whitish, firm, granular material. The lesions were all excised. The histological examination of all the biopsy specimens revealed basophilic cells at the periphery, and islets of shadow cells with an unstained central area at the site of lost nucleus (Fig. 3). The shadow cells were surrounded by a granulomatous infiltration composed mainly of giant cells.