GI

Question 1

Plummer Vinson Syndrome

Answer 1

Esophageal web and atrophic glossitis. Presents as microcytic iron def anemia, dysphagia, and beefy red tongue

Question 2

cholangioncarinoma is a complication of

Answer 2

primary sclerosing cholangitis; Chinese liver fluke

Question 3

Weil dx associated with

Answer 3

lepto

swimming in contaminated water`

Question 4

necrotizing migrating erythema

Answer 4

glucogonoma`

Question 5

CA19-19 marker for

Answer 5

pancreatic carcinoma

Question 6

Mutation in FGF

Answer 6

Achondroplasia - arrests maturation of chondrocytes

Question 7

Mutation in collage gene

Answer 7

Osteogenesis imperfecta

Question 8

Mutation in lysyl hydroxylase gene

Answer 8

Ehlers-Danlos syndrome (hyperfelxability of joints and fragility of skin, heart valves, and other organ tissues)

Question 9

Pott’s disease

Answer 9

Tuberculous spondylitis - vertebral body as almost completely replaced by tuberculous tissue. Intervertebral disk preserved.

Question 10

Eosinophilic granuloma

Answer 10

Langerhans cell histiocytosis (localized form)
Typically one or two lytic areas in bones of the axial or vertebrae or skull.
70% of LCH

Question 11

Hand-Schuller-Christian disease

Answer 11

Langerhans cell histiocytosis (disseminated variant)
kids 2-5
Radiolucent bony lesions
Involvement of jaw bone = floating teeth
Infiltration of retro orbital space = exopthalmous
Crusty, red, weepy skin lesion a hair line and extensors surfaces.
Deafness may result if involve mastoid air cells
Diabetes inspidus of involve hypothalmaic stalk
TRIAD: radiolucent lesions of the skull, DI, exopthalmous

Question 12

Letterer-Siwe dx

Answer 12

Langerhans cell histiocytosis (fulminate and often fatal generalized dx)

Question 13

Brown tumor associated with

Answer 13

Primary hyperparathryoidism

brown due to himosiderin laden macrophages and areas of hemorrhage from microfractures (with reactive woven bone)

Question 14

Hydrops fatalis

Answer 14

Severe edema due to congestive heart failure caused by severe anemia
–often due to Erythroblastosis fetalis

Question 15

Eosinophilic esophagitis

Answer 15

probably related to allergy
esophagus has transverse ridges and appears like a trachea.
mild peripheral eosiniophilia

Question 16

c-kit associated with

Answer 16

gastrointestinal stromal tumors

spindle shaped cells present (DE-differentiated)

Question 17

Inherited disease associated with peritonitits, arthritis, and pluritis?

Answer 17

Familial Mediterranean Fever

Question 18

Gardner syndrome triad:

Answer 18

Familial adenomatous polposis, fibromatosis, and ostemoas (benign surface skull tumors)

Question 19

Gilbert syndrome

Answer 19

most common inherited disorder of bilirubin conjugation
decreased levels of uridine diphosphate glucuronyl transferase
AR
increased UCB

Question 20

Crigler-Najjar syndrome

Answer 20

mutation in the gene coding for UDPGT –> enzyme is severely lacking or completely absent
increase UCB
Kernicterus can be fatal

Question 21

Dubin Johnson Syndrome

Answer 21

deficiency of bilirubin canalicular transport protein
AR
increased CB
Liver is dark (differs from rotor syndrome)

Question 22

anti-mitochondrial antibodies

Answer 22

primary biliary cirrhosis

Question 23

anti-smooth muscle antibodies

Answer 23

autoimmune hepatitis

Question 24

most frequent sarcoma after radiation

Answer 24

malignant fibrous histocytoma - soft tissue tumor with centers of histocytic (macrophage) differentiation

Question 25

Dupuytren contracture

Answer 25

superficial fibromatosis that prevents the person from fully extending their finger. The lesion contains mature fibroblasts surrounded by dense collagen.