This content is machine translated Rare diseases Fanconi-Bickel syndrome Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
View Post 4 min This content is machine translated Rare skin diseases Porokeratoses – chronic cornification disorder of the epidermis Clinically, porokeratoses are characterized by a keratinization disorder. Several porokeratosis variants are distinguished. A common histologic feature of all porokeratoses is corneal lamellae in the marginal ridge area. Due to…
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…
