Chapter 1

Question 1

VON HIPPEL LINDAU DISEASE

Answer 1

1. Rare, AD condition
2. Capillary hemangioblastomas in the retina and/or cerebellum, as well as congenital cysts and/or neoplasms in kidney, liver, and pancreas
3. Patients are also at risk for

Question 2

VON RECKLINGHAUSEN’S DISEASE

Answer 2

1. Neurofibromatosis type 1
2. Inherited peripheral nervous system tumor syndrome
3. patients develop neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of iris) and cafe au lait spots (hyperpigmented cutaneous macules)

Question 3

NEUROFIBROMATOSIS TYPE 2

Answer 3

1. AD nervous system tumor syndrome

2. Patients commonly develop bilateral cranial nerve VIII schwannomas and multiple meningiomas

Question 4

STURGE-WEBER SYNDROME

Answer 4

1. aka Encephalotrigeminal angiomatosis, a rare congenital neurocutaneous disorder characterized by presence of cutaneous facial angiomas and leptomeningeal angiomas.
2. Skin involvement typically overlies V1 and V2 of CN V.
3. Can be associated with mental retardation, seizures, hemiplegia, and skull radiopacities
4. Skull radiographs may show characteristic “tram-track” calcifications

Question 5

TUBEROUS SCLEROSIS

Answer 5

1. AD syndrome characterized by cutaneous angiofibromas (adenoma sebaceum), visceral cysts, and variety of other hamartomas, as well as renal angiomylipomas and cardiac rhabdomyomas.
2. Can get kidney, liver, and pancreatic cysts
3. Can get cortical and subependymal hamartomas
4. Clinically, seizures are a major complication

Question 6

OSLER-WEBER-RENDU SYNDROME

Answer 6

1. aka hereditary hemorrhagic telangiectasia
2. AD inheritance of congenital telangectasias
3. Telangectasias can rupture, causing epistaxis, GI bleeding, or hematuria.

Question 7

PEUTZ-JEGHERS

Answer 7

1. AD syndrome featuring multiple nonmalignant hamartomas throughout GI tract, along with hyperpigmented mouth, lips, hands, genitalia.
2. Associated with increased risk of CRC and other visceral malignancies.