Von Hippel-Lindau disease (VHL) is characterized by abnormal growth of blood vessels (angiomatosis) that results from inactivation of the tumor suppressor VHL gene. In this rare, autosomal dominant, neurocutaneous disease, benign and malignant tumors and cysts form in many organs. Clinical features include retinal, central nervous system (CNS), and spinal cord hemangioblastomas, pheochromocytomas, endolymphatic sac tumors, multiple pancreatic and renal cysts, and an increased risk for malignant transformation into renal cell carcinoma. Clinical presentations are variable depending on the size and location of the growths. Symptoms commonly present in adolescence or early adulthood although they can manifest at any age.
Associated morbidity and mortality are determined by the extent of organ system involvement. Patients require long-term surveillance for malignancy and other complications.
ICD10CM: Q85.8 – Other phakomatoses, not elsewhere classified