Test 1 additions Flashcards
What is the significance of tylosis?
RHBDF2 mutation
increased risk for SCC
What are the inheritance patterns for SPINK1 and PRSS1 mutations, respectively?
SPINK1 = Autosomal recessive
PRSS1 = autosomal dominant
Where does angiodysplasia typically manifest?
Right colon
What is the inheritance pattern of IPEX?
X linked
What is the inheritance pattern of congenital lactase deficiency?
Autosomal recessive
What is the inheritance pattern of abetalipoproteinemia and what stain is used to dx it?
Autosomal recessive
Oil red O stain for lipids
Btw what two muscles does a zenker’s diverticulum typically occur?
inferior constrictor m and cricopharygeous m
What is a phrygian cap?
congenital abnormality where the fundus of the gallbladder is folded inward
What are hutchison teeth?
vampire teeth due to congenital syphillis
What stain is used in a tzanck smear and what are you looking for?
wright or giemsa stain
+ if acantholytic keratinocytes or multinucleated acantholytic keratinocytes are detected
(this is for HSV)
What is the order of mutations in HpV caused SCC?
p16 –> TP53 –> cyclin D
What is the duct associated w/ the parotid gland?
stensen’s duct
What enzymes do the parotid gland and submucosa of the tongue produce?
parotid: salivary amylase
submucosa of tongue: lingual lipase
What mutations are associated w/ mucoepidermoid carcinoma?
(11:19)(q21;p13) –> MECT1-MAML2 fusion gene
What foramen does the facial nerve exit when it is close to the parotid gland?
stylomastoid foramen
Where is meckels diverticulum located typically?
RLQ on anti-mesenteric side
What antibodies will be positive in diffuse scleroderma?
limited scleroderma?
diffuse: anti-topoisomerase/Anti-Scl-70
limited: anti-centromere Abs
What type of cancer are ppl with sjogren’s syndrome more likely to get?
B cell non-Hodgkin lymphoma
What artery would be damaged in a posterior stomach body perforation?
splenic A
What lesion is a complication of chronic otitis media?
cholesteatoma
What lesion is often seen in young ppl around an erupting tooth?
dentigerous cyst
What distinguishes a branchial cyst from a thyroglossal duct cyst?
branchial = more lateral, don’t have thyroid tissue, and have a lot of lymphoid tissue
thyroglossal = midline, just adjacent to hyoid bone; squamous, respiratory epithelium, thyroid follicles, surrounded by fibrous tissue and lymphoid follicles
What genetics are associated with diffuse gastric carcinoma?
CDH1 loss of function mutation –> can inflitrate as single cells
mucin
What cancer is most associated with celiac dz?
T-cell lymphoma
What is positive fecal calprotectin linked to?
IBD
What is tea colored urine associated with?
cholecystitis
What antibody do you check to evaluate for celiac dz in someone who is IgA deficient?
anti-DGP
What would you see on EGD in whipple dz?
shaggy looking villi full of bacilli-laden macrophage
