Phakomatoses

Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Caf é-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti le sions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and heart. Managing these disorders requires disease specific supportive care, tumor monitoring, surveillance for selected cancers, and treatment of comorbid conditi ons.
Source: Dermatologic Clinics - Category: Dermatology Authors: Source Type: research