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Von Hippel-Lindau disease
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Von Hippel-Lindau disease

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Contributors: Michael Nguyen, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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.

For more information, see OMIM.

Codes

ICD10CM:
Q85.8 – Other phakomatoses, not elsewhere classified

SNOMEDCT:
46659004 – Von Hippel-Lindau syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Differential diagnosis of multiple café-au-lait macules:
Other syndromes with similar neoplasms:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed: 05/01/2017
Last Updated: 05/01/2017
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Von Hippel-Lindau disease
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