Syndromes/eponyms

Question 1

Kasabach Merritt syndrome

Answer 1

asst with Kaposiform hemangioendothelioma

tumor traps platelets

Question 2

Carney Complex

Answer 2

Abnormal skin pigmentation

Atrial/cutaneous myxomas

endocrine abnormalities

Question 4

Gorlin syndrome

Answer 4

nevoid basal cell carcinoma syndrome

low frequency of intramural cardiac myofibromas

PTC mx

9q22.3

Question 5

Gardner syndrome

Answer 5

FAP, osteomas, epidermal cysts and fibromas

Question 6

Turcot’s syndrome

Answer 6

coexistance of hereditary polypsos with CNS tumors

Question 7

budd chiari

Answer 7

sinusoidal dilation/congestion

perivascular fibrosis without significant portal change

Question 8

Caroli’s disease

Answer 8

dilation ofintrahepatic bile ducts ass’t with polycystic kidney disease

Question 9

Hand Schuller Christian Disease

Answer 9

LCH multifocal unisystem

Question 10

Letterer Siwe disease

Answer 10

multifocal mutisystem

Question 11

Ollier’s disease

Answer 11

ass’t w enchondromas

Question 12

Mafucci’s disease

Answer 12

ass’t with hemangiomas

Question 13

McCune Albright

Answer 13

cafe au lait spots, endocrine disorders, polyostotic fibrous dysplasia