Publications by authors named "S Tschernitz"

Introduction: Multiple symmetric lipomatosis (MSL) (syn.: Launois-Bensaude Syndrome, benign symmetric lipomatosis) is a rare disease of fatty tissue. The pathophysiology of MSL still remains unclear, although several approaches have been described in order to understand it.

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Little is known on the causes and pathogenesis of the adipose tissue disorder (familial) Multiple Symmetric Lipomatosis (MSL). In a four-generation MSL-family, we performed whole exome sequencing (WES) in 3 affected individuals and 1 obligate carrier and identified Calcyphosine-like (CAPSL) as the most promising candidate gene for this family. Screening of 21 independent patients excluded CAPSL coding sequence variants as a common monogenic cause, but using immunohistochemistry we found that CAPSL was down-regulated in adipose tissue not only from the index patient but also in 10 independent sporadic MSL-patients.

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CME: Update Actinic Keratoses Actinic keratoses (AKs) present as changes to the skin caused by chronic UVB damage. The warning signs are increased keratinization and dysplasia of epidermal cells. AKs can evolve into squamous cell carcinomas.

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Background: Multiple symmetric lipomatosis (MSL) is defined as a disorder of nonencapsulated adipose tissue growth. Its prevalence is indicated as 1:25,000 and affects, as stated in the literature, mainly Mediterranean males (male:female ratio of 15:1). Phenotypes are still classified as defined by Donhauser in 1991.

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Disk-degeneration is believed a major cause for lumbar pain. Previously, potential stem cell niches in the intervertebral disk (IVD) region, located adjacent to epiphyseal plate, was reported. The aim of the study was to examine migration of mesenchymal stem cells (MSCs), extracellular matrix (ECM) architecture in a potential cellular migration route (CMR; area located between the niche and IVD) and in the IVD in non-degenerated lapine- and in human degenerated IVD tissues.

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