This content is machine translated Rare diseases Current diagnostic criteria for neurofibromatosis type 1 – an update. Also known as “von Recklinghausen disease,” neurofibromatosis type 1 is a rare genetic multi-organ disease. A common feature of neurofibromatosis type 1 that can be diagnosed early in its course…
View Post 4 min This content is machine translated Breast Cancer Improving treatment management: genetics in focus The genetics of breast cancer has become a fundamental aspect of treatment management. It influences screening, follow-up, prophylactic and therapeutic recommendations for women who carry a germinal breast cancer susceptibility…
View Post 3 min This content is machine translated Neuropediatrics Epileptic encephalopathy due to impaired GABA neurotransmission? Scientists recently demonstrated that rare inherited mismatches in SLC32A1, a gene encoding the vesicular gamma-aminobutyric acid transporter, can cause genetic epilepsies with febrile convulsions. Now the question was whether these…
View Post 6 min This content is machine translated Retinal dystrophy due to RPE65 mutation Gene therapy drug improves vision There are a variety of different mutations that can underlie hereditary retinal dystrophy. Thanks to the development of modern molecular genetic testing methods, the genetic cause can nowadays be identified…
View Post 3 min This content is machine translated Rare skin diseases Darier’s disease – a hereditary keratinization disorder The disease, also known as dyskeratosis follicularis, is associated with impaired keratinization of the epidermis, hair follicles and fingernails. Histologically, Darier’s disease is characterized by marked dyskeratosis. Therapeutic options are…
View Post 2 min 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…
