This content is machine translated Rare skin diseases Clouston syndrome – a hidrotic ectodermal dysplasia. Clouston syndrome is an autosomal dominant inherited disorder characterized by the leading symptoms of hyperkeratosis, nail dystrophy and alopecia. The syndrome is caused by mutations in the GJB6 gene, which…
View Post 2 min This content is machine translated Rare diseases Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome is due to mutations in the VHL gene and is characterized by hemangioblastomas of the brain, spinal cord, and retina of the eye. In addition, affected individuals…
View Post 1 min This content is machine translated Case study from the clinic Atypical dermal melanocytosis In a pediatric patient, atypical dermal melanocytosis led to the diagnosis of mucopolysaccharidosis type II, also known as “Hunter’s disease.”
View Post 5 min This content is machine translated Metastatic basal cell carcinoma Individualized treatment strategy using hedgehog inhibitors. Targeted therapy with hedgehog inhibitors is available for the treatment of locally advanced or metastatic basal cell carcinoma. Patients who initially show a good response but develop secondary resistance during…
View Post 2 min This content is machine translated Genetics Revised law on genetic testing entered into force As of 01.12.2022, the revised law on human genetic testing has come into force. It is intended to prevent abuses and ensure the protection of personality.
View Post 5 min This content is machine translated Advanced stage malignant melanoma Targeted therapy with BRAF/MEK inhibitors – an update. Patients with non-resectable metastatic melanoma with BRAFV600 mutation should first be evaluated for eligibility for immunotherapy. In addition to checkpoint inhibition, however, targeted therapy with BRAF-MEK inhibitors is now an…
View Post 4 min This content is machine translated Psoriasis Tissue-resident memory T cells as “key players”. Immunological memory plays an important role in the pathogenesis of psoriasis. Increasingly, researchers are focusing on tissue resident memory T-cells (TRM cells). This is because the persistence of TRM cells…
View Post 3 min This content is machine translated Type 1 diabetes The autoimmune polyglandular syndrome in the focus of attention Genetic predisposition plays a crucial role as a risk factor in type 1 diabetes and associated autoimmune disorders. In addition, antibody determination plays a key role in the diagnosis and…
View Post 3 min This content is machine translated Test procedure Breast cancer early detection using biomarkers – where do we stand? Early detection of breast cancer still offers the best chance of cure. Mammography is the benchmark for screening, but is subject to technical, logistical, and diagnostic limitations. For this reason,…
View Post 3 min This content is machine translated Study report: Online survey Molecular diagnostics in dermatology In the age of personalized medicine, molecular diagnostics is also becoming increasingly important in dermatology. In a cross-sectional study published in the JDDG, their use in the areas of oncological,…
View Post 2 min This content is machine translated Chronic nodular prurigo Pruriginous lesional skin exhibits specific DNA methylation signature The question of which mechanisms contribute to the chronification of pruritus in chronic nodular prurigo is the subject of current research. It is hoped that new insights will be gained…
