1
USMLE BRS Path terms
1. 11:22: transloc seen in ewing sarcoma
14:18: follicular lymphoma IG heavy chain on 14, bcl-2
oncogene on 18 p95
2.
15:17: acute promyelocytic leukemia PML gene on 15 and
RARa on 17 p95
3.
4. 8:14: Burkitts c::myc is on 8, IG heavy chain is on 14 p95
9:22: Philadelphia chromosome, CML bcr abl fusion c-abl
on 9, bcr on 22 p95
5.
6. Addison disease: primary adrenal failure p312
Albers SCHonberg dx: aka osteopetrosis, marble bone
dx, dense skeleton, failure of osteoclastic activity p349
7.
Alport syndrome: hereditary nephritis associated with
nerve deafness and ocular disorders, mutation in gene
for the a5 chain of type IV collagen p261
8.
ANAs in SLE: dsDNA antibodies and Sm Smith antigen =
highly specific for SLE p77
9.
Angelman syndrome: materal transmission
del(15)(q11q13), aka happy puppet syndrome, mental
retardation, ataxia, seizures, inappropriate laughter
p53
10.
APC: tumor suppressor common in familial polyposis coli
and adenoCA of colon as well as other tumors p96
11.
Arnold Chiari formation: downward displacement of
cerebellar tonsils and medulla through foramen
magnum p364
12.
Arthus reaction: seen in hyperacute rejection, = acute
inflammation, fibrinoid necrosis of small vessels, and
extensive thrombosis p72
13.
Aschoff body: area of focal interstitial myocardial
inflammation characterized by fragmented collagen and
fibrinoid material, by large cells (Anitschkow myocytes)
and occasional multinucleated giant cells (Aschoff
cells) p140
14.
15. Bax: gene product facilitates apoptosis p7
16. Bcl2: gene product inhibits apoptosis p7
Beckwith Weidemann syndrome: hemihypertrophy,
macroglossia, organomegaly, neonatal hypoglycemia,
various embryonal tumors, deleted WT 2 gene p268
17.
Bense Jones protein: seen in urine of patients with
multiple myeloma, Ig light chain either k or l p175
18.
Berger dx: aka IgA nephropathy, deposition of IgA in
mesangium, benign recurrent hematuria in kids
following infection p261
19.
Beriberi: this comes in a wet variety and a dry one, they
are both Vit B1 thiamine deficiency
20.
Bernard Soulier dx: autosomal recessive, unusually large
platelets, lack of “GPIb IX V” p191
21.
Binswanger dx: aka subcortical leukoencephalopathy,
assoc with HTN, multiple lacunar infarcts and
progressive demyelination in subcortical area 372
22.
Birbeck granule: tennis racket shaped cytoplasmic
inclusion seen in langerhans cells (so also seen in
langerhan cell histiocytosis) p68
23.
24. Bouchard nodes: osteophytes at PIP joints p355
Bowen dx: single erythematous plaque on shaft of penis or
scrotum p280
25.
Bowenoid papulosis: appears as multiple wart-like lesions
resembling condyloma accuminatum p280
26.
BRCA1: tumor suppressor mutated in breast and ovary
CA p96
27.
BRCA2: associated with breast alone (isn’t one of these
associated with prostate? Check) p96
28.
2
Brenner tumor: ovarian tumor resembling bladder
transitional epith p296
29.
Brown tumor: non::neoplastic tumor like masses, fibrous
replacement of resorbed bone p317
30.
Brushfield spots: seen in Down synd, small white spots on
periphery of iris p51
31.
Brutons Agammaglobulinemia: x linked, absence of
plasma cells and serum immunoglobulins, cell mediated
immunity still ok, no germinal centers, recurrent
bacterial infections, resistances to fungal and viral still,
btk gene defect p73
32.
Btk gene: defective in x-linked brutons
agammaglobulinemia, B-cell tyrosine kinase p73
33.
Budd Chiari: thrombotic occlusion of major hepatic veins,
abnormal pain, jaundice, hepatomegaly, acites, liver
failure, assoc with polycythemia vera, hepatocellular
CA, and other common neoplasms, may occur as a
complication of pregnancy p246
34.
Buerger dx: aka thromboangiitis obliterans, acute inflame
of small and med arteries of extremities, extending to
adjacent veins and nerves, young jewish men, painful
ischemic dx, worse with smoking p129
35.
Burkitt lymphoma: aggressive B-cell lymphoma, EBV,
starry sky appearance, c myc p179
36.
37. C ANCA: associated with Wegener granulomatosis p128
Call Exner bodies: small follicles filled with eosinophilic
secretion, diagnostic feature of granulose cell tumor
p297
38.
Charcot Bouchard aneurysm: aneurysm at small artery
bifurcations p365
39.
Charcot triad: nystagmus, intention tremor, scanning
speech, seen in MS p370
40.
Chediak Higashi syndrome: autosomal recessive,
neutropenia, albinism, cranial and peripheral
neuropathy, tendency to develop repeated infections,
abnormal WBCs (abnormal mictotubul formation and
large cytoplasmic granules = lysosomes) p25
41.
Chromosome 10: paracentric inversion or translocation
with 17 associated with papillary thyroid CA p316
42.
Churg Strauss syndrome: aka allergic granulomatous
angiitis, necrotizing vasculitis, variant of polyarteritis
nodosa, involves pulmonary vasculature, peripheral
eosinophilia, and asthma p128
43.
Clue cell: vaginal epithelial cell with stippled appearance
due to adherent coccobacilli p290
44.
Codman triangle: radiologic appearance of periostium in
bone tumors p352
45.
46. Conn syndrome: primary aldosteronism p320
Cori dx: deficient debranching enzyme
amylo-1,6-glucosidase, glycogen in liver, heart, skeletal
muscle, stunted growth, hepatomegaly, hypoglycemia
p57
47.
Councilman body: small round eosinophilic masses found
in dieing hepatocytes often containing chromatin
remnants seen in viral hepatitis p7 and p242
48.
Cri du chat syndrome: 5p chromosome deletion, severe
mental retardation, microcephaly, catlike cry, low birth
weight, round face, hypertelorism (wide eyes) p51
49.
Crigler Najjar syndrome: severe unconj
hyperbilirubinemia due to deficient glucuronyl
transferase p239
50.
Denys Drash syndrome: abnormal WT 1 gene, intersexual
disorders, nephropathy, wilms tumor p266
51.
3
DiGeorge syndrome: aka velocardiofacial syndrome and
CATCH 22 syndrome, micro deletion of 22q11, Cardiac
abnormalities, Abnormal facies, T cell deficit due to
thymic hypoplasia, Cleft palate, Hypocalcemia due to
hypoparathyroidism, from poor development of 3rd and
4th cranial arches p51 and p73
52.
Donovan bodies: seen in granuloma inguinale, multiple
organisms filling large histiocytes p291
53.
Dry beriberi: peripheral neuropathy, atrophy of muscles,
wet - high output cardiac failure, DCM, AV shunting,
hypervolemia p116
54.
Dubin Johnson syndrome: autosomal recessive, conj
hyperbilirubinemia, defect in bili transport, black color
to liver p239
55.
E4 allele of apoprotein E: chromosome 19, allele common
in alzheimers
56.
Edwards syndrome: aka trisomy 18, mental retardation,
prominent occiput, micrognathia (small jaw), low::set
ears, rocker::bottom feet, finger deformities, congenital
heart dx p51
57.
Ewing sarcoma: small round blue cell tumor of bone, long
bones, kids, 11:22 transloc p352
58.
Fabry dx: aka angiokeratoma corporis diffusum universal,
deficient a::galactosidase A, accumulate ceramide
trihexoside, skin lesions angiokeratomas, fever, burning
pain in extremities, cardiovascular and cerebrovascular
involvement, death as adult by renal failure p59
59.
Fanconi syndrome: renal tubular dysfunction, impaired
reabsorption of glucose, amino acids, phosphate, and
bicarb thus glycosuria, hyperphosphaturia,
hypophosphatemia, aminoaciduria, systemic acidosis
p264
60.
Felty syndrome: variant of rheumatoid arthritis,
splenmegally, neutropenia, RA p354
61.
Ferruginous body: asbestosis, yellow-brown, rod shaped
body with clubbed ends, stain with Prussian blue p204
62.
FGFR3: gene mutated in achondroplasia (most common
form of dwarfism), located at 4p16.3 p349
63.
Foamy histiocyte: sphingomyelin containing phagocytes
seen in Niemman::Pick dx in liver, spleen, lymph nodes
and skin p57
64.
Gardner syndrome: autosomal dominant, numerous
adenomatous polyps along with osteomas and soft
tissue tumors p230
65.
Gaucher dx: deficient glucocerebrosidase, accumulation
of glucocerebroside in cells of mononuclear phagocyte
system 3 types :: see p 56
66.
Gerstmann Straussler: Scheinker syndrome :: prion dx,
fatal familial insomnia
67.
Gilbert syndrome: modest elevated serum unconj
bilirubin, due to decreased uptake by liver cells and
reduced activity of glucuronyl transferase p239
68.
GNAS1: mutation here causes pseudohypoparathyroidism
p318
69.
Goodpasture syndrome: aka antiglomerular basement
membrane dx, antibodies against alveolar and
glomerular basement membranes, linear
immunoflorescence p261
70.
Graves dx: autoimmune thyroiditis, hyperthyroid,
exophthalmos, increased in HLA DR3 and HLA B8 pos
people p315
71.
Guillain Barre syndrome: acute inflammatory
demyelinating dx primarily involving peripheral nerves
p370
72.
Hand Schuller Christian dx: aka chronic progressive
histiocytosis, not as bad as Letterer Siwe p350
73.
Hartnup dx: impaired tubular reabsorption of tryptophan,
pellagra::like manifestations p264
74.
Hashimoto thyroiditis: autoimmune hypothyroid, hurthle
cells common p316
75.
4
Heart failure cells: intra::alveolar hemosiderin-laden
macrophages caused by RBCs from capillary rupture
2* to pulmonary HTN p35
76.
77. Heberden nodes: osteophytes at DIP joints p355
Henoch Schonlein Purpura: hemorrhagic urticaria of
extensor surgaces of arms, legs, and buttocks, with
fever, arthralgias, and GI renal involvement similar to
IgA nephropathy, associated with URIs p128 and 189
78.
HER: 2/neu :: oncogene (aka c-erbB2), in breast cancer =
poor prognosis p95
79.
Hfe gene: located on xsome 6, mutation here = hereditary
hemochromatosis p9
80.
Hirano bodies: intracytoplasmic proximal dentritic
eosinophilic inclusions consisting of actin seen in
Alzheimers p370
81.
Hirschsprung dx: aka congenital megacolon, dilation of
colon due to absence of ganglion cells p227
82.
HLA B27 antigen: associated with 90% cases of
ankylosing spondylitis, common in rheumatoid arthritis
p69 and p354
83.
Hodgkin dx: malignant lymphoma with features
resembling inflammatory disorder, young men, Reed
Sternburg cells p176
84.
Hunter syndrome: similar to Hurler, deficient L
iduronosulfate sulfatase, accumulations of heparin
sulfate and dermatan sulfate, hepatospenomegaly,
micrognathia, retinal degeneration, joint stiffness,
mental retardation, cardiac lesions p59
85.
Huntington dx: autosomal dominant, fatal, progressive
degeneration of striatum and frontal cortex with
neuronal depletion and gliosis p372
86.
Hurler syndrome: mucopolysaccharidosis, deficient a L
iduronidase, accumulations of heparin sulfate and
dermatan sulfate in heart, brain, liver, and other
organs, progressive, hepatosplenomagaly, dwarfism,
gargoyle-like facies, stubby fingers, corneal clouding,
mental retardation, death by 10 years of age p57
87.
Hurthle cell: epithelial cells with eosinophilc granular
cytoplasm seen in hashimoto p316
88.
Hutchinson freckle: aka lentigo maligna, precursor to
lentigo maligna melanoma p336
89.
90. If you’ve gotten this far, give yourself a high five: High 5
Kartagener syndrome: defective cilia, sinusitis,
bronchiectasis, situs inversus, sometimes hearing loss
and male sterility p202
91.
Kawasaki dx: aka mucocutaneous lymph node syndrome,
acute self-limited, infants and young kids, acute
necrotizing vasculitis of small and medium vessels,
fever hemorrhagic edema of conjunctivae, lips and oral
mucosa, and cervical LAD, can cause coronary artery
vasculitis with aneurysm formation p129
92.
Kayser Fleischer ring: ring of copper deposited around
iris seen in Wilson Dx p245
93.
Kimmelsteil Wilson dx: diffuse nodular diabetic
glomerulosclerosis p323
94.
Kimmelstiel Wilson nodules: mesangial matrix material
acculmulations seen in nodular glomerulosclerosis seen
in diabetic nephropathy p259
95.
Klinefelter syndrome: at least 2 X and one Y,
hypogonadism, tall, gynecomastia, low testosterone,
high pituitary gonadotropins, infertility, p51
96.
97. Koilocyte: dysplastic cell seen in HPV p293
98. Krukenberg tumor: metastatic stomach CA to ovary p224
5
Lambert Eaton syndrome: paraneoplastic synd looks like
myasthenia gravis, often small cell lung CA p347
99.
Langhans giant cell: nuclei arranged in horseshoe-shaped
pattern about periphery of cell, characteristic of but not
specific for granulomatous TB (as opposed to a foreign
body giant cell that has scattered nuclei) p26
100.
Lesch Nyhan syndrome: deficient hypoxanthine::guanine
phosphoribosyltransferase (HGPRT), low purine
metabolism, high uric acid, thus gout, mental
retardation, choreoathetosis, spasticity, self mutilation,
aggressiveness p59
101.
Letterer Siwe dx: aka acute disseminated langerhans cell
histiocytosis, aggressive, usually fatal, kids
hepatosplenomegaly, LAD, pancytopenia, pulmonary
involvement, recurrent infections p350
102.
Li Fraumeni syndrome: lots of tumors, breast CA, soft
tissue sarc, brain tumors, leukemias, has loss of p53
tumor suppressor gene p96
103.
Libman Sacks endocarditis: occurs in SLE, small
vegitations on either or both surfaces of valves p141
104.
Lisch nodule: pigmented iris hamartoma seen in
neurofibromatosis
105.
Lynch syndrome: hereditary nonpolyposis colon cancer,
DNA repair genes messed up p96
106.
Marfan syndrome: deficient fibrillin (constituent of
microfibrils), arachnodactyly, ectopia lentis, aortic
aneurysm, mitral valve prolapsed p55
107.
McArdle syndrome: deficient muscle phosphorylase,
glycogen in skeletal muscle, cramps with exertion p57
108.
McCune Albright syndrome: polyostotic fibrous
dysplasia, precocious puberty, café au lait spots, short
stature, young girls p349
109.
Mediterranean anemia or Cooley Anemia: B
Thalassemia major p163
110.
Meigs syndrome: triad of ovarian fibroma, ascites,
hydrothorax p297
111.
Munro abscesses: minute neutrophilic abscesses found
within parakeratotic stratum corneum in psoriasis p333
112.
N: myc :: neuroblastoma amplicatiion correlates inversely
with degree of differentiation p95
113.
Names of Vitamins: B1 thiamine, B2 riboflavin, B3 niacin,
B6 pyridoxine, B12 cobalamin, C ascorbic acid, D
calciferol, E a::tocopherol
114.
Negri bodies: eosinophilic intracytoplasmic inclusions in
hippocampus and purkinje cells seen in rabies infection
p368
115.
Nelson syndrome: development of large pituitary
adenomas following bilat adrenalectomy p313
116.
117. NF1: tumor suppressor mutated in Von Recklinhousen p96
Niemann Pick dx: deficient sphingomyelinase,
accumulation of sphingomyelin in phagocytes, foamy
histiocytes in liver, spleen, lymph nodes, skin,
hepatosplenomegaly, anemia fever, occasional neuro
degeneration, half have cherry red spot macula p 57
118.
119. Orphan annie nuclei: seen in papillary thyroid CA p316
Osler Weber Rendu syndrome: aka hereditary
hemorrhagic telangectasia, telangectasias in skin and
mucous membranes, epistaxis, GI bleeds p55 and p189
120.
p53: gene product facilitates apoptosis, decreases bcl::2
and increases Bax p7
121.
p53: tumor suppressor gene, pretty much the coolest one
p96
122.
Paget dx of bone: aka osteitis deformans, increased
osteoclastic and osteoblastic activity p348
123.
Paget dx of breast: eczematoid lesion of nipple areola,
large cells with clear “halo like” area, invade
epidermis, underlying ductal CA p300
124.
6
Paget dx of vulva: similar to paget breast, sometimes
related to underlying adenoCA of sweat glands p291
125.
Pancoast tumor: aka superior sulcus tumor, seen in
bronchogenic CA, often with Horner’s p 212
126.
Patau syndrome: aka trisomy 13, mental retardation,
microcephaly, micropthalmia, brain abnormalities, cleft
lip/palate, polydactyly, rockerbottom feet, congenital
heart dx p51
127.
Peutz Jeghers syndrome: hamartomatous polyps in colon
and small intest, freckles on lips, hands, genitalia,
higher incidence of adeno CA of colon and other
malignancies, stomach, breast, ovaries p230
128.
Peyronie dx: subcutaneous fibrosis of dorsum of penis
p279
129.
PIG A: mutation = paroxysmal nocturnal hemoglobinuria
p161
130.
Plummer dx: combination of hyperthyroidism, nodular
goiter, absence of exophthalmos p315
131.
Plummer Vinson syndrome: iron deficient anemia
associated with upper::esophageal web p157
132.
Pompe dx: deficient a1,4 glucosidase, accumulation of
glycogen in liver, heart, skeletal muscle, cardiomegaly,
muscle hypotonia, spelnomegaly, intractable
hypoglycemia, death from cardiorespiratory failure
before age 3 p57
133.
Potter sequence: oligohydramnios causes fetus to be
smashed p257
134.
Prader willi syndrome: paternal transmission del
(15)(q11q13), hypogonad, hypotonia, mental
retardation, behavior probs, uncrontrolled appetite p53
135.
Ras oncogenes: oncogenes that code for p21 proteins
which are membrane signalers p93
136.
Raynaud disease: different in that it is the primary
disorder, recurrent vasospasm of small arteries and
venules, pallor, cyanosis, fingers and toes, young
healthy women p129
137.
Raynaud phenomenon: vasosmasm of small vessels, most
often in fingers, seen with autoimmune dx like SLE,
scleroderma and others (R in CREST), recurrent
vasospasm, always secondary to underlying disorder
p77 and p129
138.
139. Rb gene: retinoblastoma on chromosome 13 p95 and p352
Reed Sternburg cell: binucleated or multinucleated giant
cell seen in Hodgkin dx
140.
Reidel thyroiditis: thyroid replacement by fibrous tissue,
unkown origin, mimics CA p316
141.
Reinke crystal: intracytoplasmic inclusions seen in leydig
cell tumors p283
142.
Reiter syndrome: urethritis, conjunctivitis, arthritis,
associated with venereal or intestinal infection p354
143.
ret: protooncogene mutated in medulary thyroid CA
(MENII) p96
144.
145. ret PTC: associated with papillary thyroid CA
Reye syndrome: aspirin toxicity seen in kids after acute
febrile viral dx, microvesicular fatty change in liver and
encephalopathy p108
146.
Rotor syndrome: similar to Dubin Johnson with no black
liver p239
147.
Rouleaux formation: also seen in urine of MM, stacks of
RBCs, will have high ESR p175
148.
Sheehan syndrome: pituitary insufficiency post-partum,
low TSH ACTH p298 and 312
149.
Shy Drager syndrome: parkinsonism with autonomic
dysfunction and orthostatic hypotension p373
150.
Signet ring cell: mucinous cell, characteristic of stomach
CA met to ovary (krukenberg tumor) p224
151.
7
Simmonds dx: aka pituitary cachexia, generalized
panhypopituitarism p312
152.
153. Sipple syndrome: = MEN2a
Smudge cells: seen in CLL, leukemic B-cells that are
fragile p172
154.
Starry sky appearance: on lymph node biopsy, seen with
Burkitt lymphoma p179
155.
Stein Leventhal syndrome: aka polycystic ovary
syndrome, young women, amenorrhea, infertility,
obesity, hirsutism p295
156.
Still disease: variant of rheumatoid arthritis, aka juvenile
rheumatoid arthritis p354
157.
Sturge Weber syndrome: port wine stain on face,
ipsilateral glaucoma, vascular lesions of ocular
choroidal tissue, extensive hemangiomatous
involvement of meninges p337
158.
Takayasu arteritis: aka pulseless dx, inflammation and
stenosis of medium and large sized arteries, often aortic
arch thus aortic arch syndrome p129
159.
Tay Sachs dx: deficient hexosaminidase A, GM2
ganglioside accumulation, especially in neurons, CNS
degeneration, mental/motor deterioration, blindness,
cherry red spot on macula, death by 4 years of age p56
160.
Turcot syndrome: adenomatous polyps with tumors of
CNS p230
161.
Turner syndrome: 45 XO, female hypogonadism,
hypothyroid, short, webbed neck, 1* amenorrhea p52
162.
Um… see p 94: there’s like 15 different oncogenes listed,
knock yourself out
163.
Virchow node: superclavicular lymph node identifying
metastatic stomach CA p224
164.
Von economo encephalitis: infectious disorder, caused
postencephalitic parkinsonism p373
165.
Von Gierke dx: deficient glucose-6-phosphatase,
accumulation of glycogen in liver and kidney,
hepatomegaly, hypoglycemia p57
166.
Von Hippel Lindau dx: hemangioblastoma or cavernous
hemangioma of cerebellum, brainstem or retina,
adenomas, cysts in liver, kidney, pancreas, and other
organs, increased renal cell CA, gene = short arm of
chromosome 3 p55 and p127
167.
Von Recklinhousen dx: aka neurofibromatosis,
neurofibromas in skin, schwannomas of CN VIII, café
au lait spots, lisch nodules, skeletal disorders, other
tumors, mutated NF1 tumor suppressor gene, osteolytic
lesions, brown tumors p55 and p96 and 347
168.
Waldenstrom Macroglobulinemia: manifestation of
lymphplasmocytic lymphoma, B cell neoplasm p176
169.
Waterhouse Friderichsen syndrome: catastrophic
adrenal insuff and vascular collapse, hemorrhagic
necrosis of adrenal cortex p321
170.
Wegener granulomatosis: unknown etiology, necrotizing
granulomatous vasculitis of small to medium sized
vessels of the respiratory tract, kidneys, and other
organs, circulating C-ANCAs p128
171.
Werdnig Hoffman syndrome: aka infantile progressive
spinal muscular atrophy, autosomal recessive, LMN
disease, infants p373
172.
173. Wermer syndrome: = MEN1
Wernicke Korsakoff syndrome: thiamine deficiency,
cerebral dysfunction, aka alcoholic encephalopathy,
hemorrhagic lesions in the mamillary bodies,
confusion, ataxia, ophthalmoplegia, and memory loss
plus confabulation p 105 and p115
174.
Whipple dx: malabsorption syndrome, Tropheryma
wippelii bacilli, small intestine commonly affected,
arthralgias, cardiac, and neuro symptoms p227
175.
Whipple triad: seen in insulinoma, episodic
hyperinsulinemia and hypoglycemia, CNS dysfunction,
reversal of CNS probs with administration of glucose
p324
176.
177. Wilms tumor: clear cell renal tumor seen in kids p266
8
Wilson dx: autosomal recessive, hepatitis, accumulation of
copper due to transport problem, low ceruloplasmin
seen, kayser fleischer rings in eyes p245
178.
Wiskott Aldrich syndrome: x linked, aka
immunodeficiency with thrombocytopenia and eczema,
total immunoglobulins often normal, recurrent
infections p74
179.
WT1 and WT2: tumor suppressor mutated in wilms tumor
p96
180.
Zenker diverticulum: esophageal diverticulum just above
upper esoph sphincter p221
181.
USMLE BRS Path terms
1. 11:22: transloc seen in ewing sarcoma
14:18: follicular lymphoma IG heavy chain on 14, bcl-2
oncogene on 18 p95
2.
15:17: acute promyelocytic leukemia PML gene on 15 and
RARa on 17 p95
3.
4. 8:14: Burkitts c::myc is on 8, IG heavy chain is on 14 p95
9:22: Philadelphia chromosome, CML bcr abl fusion c-abl
on 9, bcr on 22 p95
5.
6. Addison disease: primary adrenal failure p312
Albers SCHonberg dx: aka osteopetrosis, marble bone
dx, dense skeleton, failure of osteoclastic activity p349
7.
Alport syndrome: hereditary nephritis associated with
nerve deafness and ocular disorders, mutation in gene
for the a5 chain of type IV collagen p261
8.
ANAs in SLE: dsDNA antibodies and Sm Smith antigen =
highly specific for SLE p77
9.
Angelman syndrome: materal transmission
del(15)(q11q13), aka happy puppet syndrome, mental
retardation, ataxia, seizures, inappropriate laughter
p53
10.
APC: tumor suppressor common in familial polyposis coli
and adenoCA of colon as well as other tumors p96
11.
Arnold Chiari formation: downward displacement of
cerebellar tonsils and medulla through foramen
magnum p364
12.
Arthus reaction: seen in hyperacute rejection, = acute
inflammation, fibrinoid necrosis of small vessels, and
extensive thrombosis p72
13.
Aschoff body: area of focal interstitial myocardial
inflammation characterized by fragmented collagen and
fibrinoid material, by large cells (Anitschkow myocytes)
and occasional multinucleated giant cells (Aschoff
cells) p140
14.
15. Bax: gene product facilitates apoptosis p7
16. Bcl2: gene product inhibits apoptosis p7
Beckwith Weidemann syndrome: hemihypertrophy,
macroglossia, organomegaly, neonatal hypoglycemia,
various embryonal tumors, deleted WT 2 gene p268
17.
Bense Jones protein: seen in urine of patients with
multiple myeloma, Ig light chain either k or l p175
18.
Berger dx: aka IgA nephropathy, deposition of IgA in
mesangium, benign recurrent hematuria in kids
following infection p261
19.
Beriberi: this comes in a wet variety and a dry one, they
are both Vit B1 thiamine deficiency
20.
Bernard Soulier dx: autosomal recessive, unusually large
platelets, lack of “GPIb IX V” p191
21.
Binswanger dx: aka subcortical leukoencephalopathy,
assoc with HTN, multiple lacunar infarcts and
progressive demyelination in subcortical area 372
22.
Birbeck granule: tennis racket shaped cytoplasmic
inclusion seen in langerhans cells (so also seen in
langerhan cell histiocytosis) p68
23.
24. Bouchard nodes: osteophytes at PIP joints p355
Bowen dx: single erythematous plaque on shaft of penis or
scrotum p280
25.
Bowenoid papulosis: appears as multiple wart-like lesions
resembling condyloma accuminatum p280
26.
BRCA1: tumor suppressor mutated in breast and ovary
CA p96
27.
BRCA2: associated with breast alone (isn’t one of these
associated with prostate? Check) p96
28.
2
Brenner tumor: ovarian tumor resembling bladder
transitional epith p296
29.
Brown tumor: non::neoplastic tumor like masses, fibrous
replacement of resorbed bone p317
30.
Brushfield spots: seen in Down synd, small white spots on
periphery of iris p51
31.
Brutons Agammaglobulinemia: x linked, absence of
plasma cells and serum immunoglobulins, cell mediated
immunity still ok, no germinal centers, recurrent
bacterial infections, resistances to fungal and viral still,
btk gene defect p73
32.
Btk gene: defective in x-linked brutons
agammaglobulinemia, B-cell tyrosine kinase p73
33.
Budd Chiari: thrombotic occlusion of major hepatic veins,
abnormal pain, jaundice, hepatomegaly, acites, liver
failure, assoc with polycythemia vera, hepatocellular
CA, and other common neoplasms, may occur as a
complication of pregnancy p246
34.
Buerger dx: aka thromboangiitis obliterans, acute inflame
of small and med arteries of extremities, extending to
adjacent veins and nerves, young jewish men, painful
ischemic dx, worse with smoking p129
35.
Burkitt lymphoma: aggressive B-cell lymphoma, EBV,
starry sky appearance, c myc p179
36.
37. C ANCA: associated with Wegener granulomatosis p128
Call Exner bodies: small follicles filled with eosinophilic
secretion, diagnostic feature of granulose cell tumor
p297
38.
Charcot Bouchard aneurysm: aneurysm at small artery
bifurcations p365
39.
Charcot triad: nystagmus, intention tremor, scanning
speech, seen in MS p370
40.
Chediak Higashi syndrome: autosomal recessive,
neutropenia, albinism, cranial and peripheral
neuropathy, tendency to develop repeated infections,
abnormal WBCs (abnormal mictotubul formation and
large cytoplasmic granules = lysosomes) p25
41.
Chromosome 10: paracentric inversion or translocation
with 17 associated with papillary thyroid CA p316
42.
Churg Strauss syndrome: aka allergic granulomatous
angiitis, necrotizing vasculitis, variant of polyarteritis
nodosa, involves pulmonary vasculature, peripheral
eosinophilia, and asthma p128
43.
Clue cell: vaginal epithelial cell with stippled appearance
due to adherent coccobacilli p290
44.
Codman triangle: radiologic appearance of periostium in
bone tumors p352
45.
46. Conn syndrome: primary aldosteronism p320
Cori dx: deficient debranching enzyme
amylo-1,6-glucosidase, glycogen in liver, heart, skeletal
muscle, stunted growth, hepatomegaly, hypoglycemia
p57
47.
Councilman body: small round eosinophilic masses found
in dieing hepatocytes often containing chromatin
remnants seen in viral hepatitis p7 and p242
48.
Cri du chat syndrome: 5p chromosome deletion, severe
mental retardation, microcephaly, catlike cry, low birth
weight, round face, hypertelorism (wide eyes) p51
49.
Crigler Najjar syndrome: severe unconj
hyperbilirubinemia due to deficient glucuronyl
transferase p239
50.
Denys Drash syndrome: abnormal WT 1 gene, intersexual
disorders, nephropathy, wilms tumor p266
51.
3
DiGeorge syndrome: aka velocardiofacial syndrome and
CATCH 22 syndrome, micro deletion of 22q11, Cardiac
abnormalities, Abnormal facies, T cell deficit due to
thymic hypoplasia, Cleft palate, Hypocalcemia due to
hypoparathyroidism, from poor development of 3rd and
4th cranial arches p51 and p73
52.
Donovan bodies: seen in granuloma inguinale, multiple
organisms filling large histiocytes p291
53.
Dry beriberi: peripheral neuropathy, atrophy of muscles,
wet - high output cardiac failure, DCM, AV shunting,
hypervolemia p116
54.
Dubin Johnson syndrome: autosomal recessive, conj
hyperbilirubinemia, defect in bili transport, black color
to liver p239
55.
E4 allele of apoprotein E: chromosome 19, allele common
in alzheimers
56.
Edwards syndrome: aka trisomy 18, mental retardation,
prominent occiput, micrognathia (small jaw), low::set
ears, rocker::bottom feet, finger deformities, congenital
heart dx p51
57.
Ewing sarcoma: small round blue cell tumor of bone, long
bones, kids, 11:22 transloc p352
58.
Fabry dx: aka angiokeratoma corporis diffusum universal,
deficient a::galactosidase A, accumulate ceramide
trihexoside, skin lesions angiokeratomas, fever, burning
pain in extremities, cardiovascular and cerebrovascular
involvement, death as adult by renal failure p59
59.
Fanconi syndrome: renal tubular dysfunction, impaired
reabsorption of glucose, amino acids, phosphate, and
bicarb thus glycosuria, hyperphosphaturia,
hypophosphatemia, aminoaciduria, systemic acidosis
p264
60.
Felty syndrome: variant of rheumatoid arthritis,
splenmegally, neutropenia, RA p354
61.
Ferruginous body: asbestosis, yellow-brown, rod shaped
body with clubbed ends, stain with Prussian blue p204
62.
FGFR3: gene mutated in achondroplasia (most common
form of dwarfism), located at 4p16.3 p349
63.
Foamy histiocyte: sphingomyelin containing phagocytes
seen in Niemman::Pick dx in liver, spleen, lymph nodes
and skin p57
64.
Gardner syndrome: autosomal dominant, numerous
adenomatous polyps along with osteomas and soft
tissue tumors p230
65.
Gaucher dx: deficient glucocerebrosidase, accumulation
of glucocerebroside in cells of mononuclear phagocyte
system 3 types :: see p 56
66.
Gerstmann Straussler: Scheinker syndrome :: prion dx,
fatal familial insomnia
67.
Gilbert syndrome: modest elevated serum unconj
bilirubin, due to decreased uptake by liver cells and
reduced activity of glucuronyl transferase p239
68.
GNAS1: mutation here causes pseudohypoparathyroidism
p318
69.
Goodpasture syndrome: aka antiglomerular basement
membrane dx, antibodies against alveolar and
glomerular basement membranes, linear
immunoflorescence p261
70.
Graves dx: autoimmune thyroiditis, hyperthyroid,
exophthalmos, increased in HLA DR3 and HLA B8 pos
people p315
71.
Guillain Barre syndrome: acute inflammatory
demyelinating dx primarily involving peripheral nerves
p370
72.
Hand Schuller Christian dx: aka chronic progressive
histiocytosis, not as bad as Letterer Siwe p350
73.
Hartnup dx: impaired tubular reabsorption of tryptophan,
pellagra::like manifestations p264
74.
Hashimoto thyroiditis: autoimmune hypothyroid, hurthle
cells common p316
75.
4
Heart failure cells: intra::alveolar hemosiderin-laden
macrophages caused by RBCs from capillary rupture
2* to pulmonary HTN p35
76.
77. Heberden nodes: osteophytes at DIP joints p355
Henoch Schonlein Purpura: hemorrhagic urticaria of
extensor surgaces of arms, legs, and buttocks, with
fever, arthralgias, and GI renal involvement similar to
IgA nephropathy, associated with URIs p128 and 189
78.
HER: 2/neu :: oncogene (aka c-erbB2), in breast cancer =
poor prognosis p95
79.
Hfe gene: located on xsome 6, mutation here = hereditary
hemochromatosis p9
80.
Hirano bodies: intracytoplasmic proximal dentritic
eosinophilic inclusions consisting of actin seen in
Alzheimers p370
81.
Hirschsprung dx: aka congenital megacolon, dilation of
colon due to absence of ganglion cells p227
82.
HLA B27 antigen: associated with 90% cases of
ankylosing spondylitis, common in rheumatoid arthritis
p69 and p354
83.
Hodgkin dx: malignant lymphoma with features
resembling inflammatory disorder, young men, Reed
Sternburg cells p176
84.
Hunter syndrome: similar to Hurler, deficient L
iduronosulfate sulfatase, accumulations of heparin
sulfate and dermatan sulfate, hepatospenomegaly,
micrognathia, retinal degeneration, joint stiffness,
mental retardation, cardiac lesions p59
85.
Huntington dx: autosomal dominant, fatal, progressive
degeneration of striatum and frontal cortex with
neuronal depletion and gliosis p372
86.
Hurler syndrome: mucopolysaccharidosis, deficient a L
iduronidase, accumulations of heparin sulfate and
dermatan sulfate in heart, brain, liver, and other
organs, progressive, hepatosplenomagaly, dwarfism,
gargoyle-like facies, stubby fingers, corneal clouding,
mental retardation, death by 10 years of age p57
87.
Hurthle cell: epithelial cells with eosinophilc granular
cytoplasm seen in hashimoto p316
88.
Hutchinson freckle: aka lentigo maligna, precursor to
lentigo maligna melanoma p336
89.
90. If you’ve gotten this far, give yourself a high five: High 5
Kartagener syndrome: defective cilia, sinusitis,
bronchiectasis, situs inversus, sometimes hearing loss
and male sterility p202
91.
Kawasaki dx: aka mucocutaneous lymph node syndrome,
acute self-limited, infants and young kids, acute
necrotizing vasculitis of small and medium vessels,
fever hemorrhagic edema of conjunctivae, lips and oral
mucosa, and cervical LAD, can cause coronary artery
vasculitis with aneurysm formation p129
92.
Kayser Fleischer ring: ring of copper deposited around
iris seen in Wilson Dx p245
93.
Kimmelsteil Wilson dx: diffuse nodular diabetic
glomerulosclerosis p323
94.
Kimmelstiel Wilson nodules: mesangial matrix material
acculmulations seen in nodular glomerulosclerosis seen
in diabetic nephropathy p259
95.
Klinefelter syndrome: at least 2 X and one Y,
hypogonadism, tall, gynecomastia, low testosterone,
high pituitary gonadotropins, infertility, p51
96.
97. Koilocyte: dysplastic cell seen in HPV p293
98. Krukenberg tumor: metastatic stomach CA to ovary p224
5
Lambert Eaton syndrome: paraneoplastic synd looks like
myasthenia gravis, often small cell lung CA p347
99.
Langhans giant cell: nuclei arranged in horseshoe-shaped
pattern about periphery of cell, characteristic of but not
specific for granulomatous TB (as opposed to a foreign
body giant cell that has scattered nuclei) p26
100.
Lesch Nyhan syndrome: deficient hypoxanthine::guanine
phosphoribosyltransferase (HGPRT), low purine
metabolism, high uric acid, thus gout, mental
retardation, choreoathetosis, spasticity, self mutilation,
aggressiveness p59
101.
Letterer Siwe dx: aka acute disseminated langerhans cell
histiocytosis, aggressive, usually fatal, kids
hepatosplenomegaly, LAD, pancytopenia, pulmonary
involvement, recurrent infections p350
102.
Li Fraumeni syndrome: lots of tumors, breast CA, soft
tissue sarc, brain tumors, leukemias, has loss of p53
tumor suppressor gene p96
103.
Libman Sacks endocarditis: occurs in SLE, small
vegitations on either or both surfaces of valves p141
104.
Lisch nodule: pigmented iris hamartoma seen in
neurofibromatosis
105.
Lynch syndrome: hereditary nonpolyposis colon cancer,
DNA repair genes messed up p96
106.
Marfan syndrome: deficient fibrillin (constituent of
microfibrils), arachnodactyly, ectopia lentis, aortic
aneurysm, mitral valve prolapsed p55
107.
McArdle syndrome: deficient muscle phosphorylase,
glycogen in skeletal muscle, cramps with exertion p57
108.
McCune Albright syndrome: polyostotic fibrous
dysplasia, precocious puberty, café au lait spots, short
stature, young girls p349
109.
Mediterranean anemia or Cooley Anemia: B
Thalassemia major p163
110.
Meigs syndrome: triad of ovarian fibroma, ascites,
hydrothorax p297
111.
Munro abscesses: minute neutrophilic abscesses found
within parakeratotic stratum corneum in psoriasis p333
112.
N: myc :: neuroblastoma amplicatiion correlates inversely
with degree of differentiation p95
113.
Names of Vitamins: B1 thiamine, B2 riboflavin, B3 niacin,
B6 pyridoxine, B12 cobalamin, C ascorbic acid, D
calciferol, E a::tocopherol
114.
Negri bodies: eosinophilic intracytoplasmic inclusions in
hippocampus and purkinje cells seen in rabies infection
p368
115.
Nelson syndrome: development of large pituitary
adenomas following bilat adrenalectomy p313
116.
117. NF1: tumor suppressor mutated in Von Recklinhousen p96
Niemann Pick dx: deficient sphingomyelinase,
accumulation of sphingomyelin in phagocytes, foamy
histiocytes in liver, spleen, lymph nodes, skin,
hepatosplenomegaly, anemia fever, occasional neuro
degeneration, half have cherry red spot macula p 57
118.
119. Orphan annie nuclei: seen in papillary thyroid CA p316
Osler Weber Rendu syndrome: aka hereditary
hemorrhagic telangectasia, telangectasias in skin and
mucous membranes, epistaxis, GI bleeds p55 and p189
120.
p53: gene product facilitates apoptosis, decreases bcl::2
and increases Bax p7
121.
p53: tumor suppressor gene, pretty much the coolest one
p96
122.
Paget dx of bone: aka osteitis deformans, increased
osteoclastic and osteoblastic activity p348
123.
Paget dx of breast: eczematoid lesion of nipple areola,
large cells with clear “halo like” area, invade
epidermis, underlying ductal CA p300
124.
6
Paget dx of vulva: similar to paget breast, sometimes
related to underlying adenoCA of sweat glands p291
125.
Pancoast tumor: aka superior sulcus tumor, seen in
bronchogenic CA, often with Horner’s p 212
126.
Patau syndrome: aka trisomy 13, mental retardation,
microcephaly, micropthalmia, brain abnormalities, cleft
lip/palate, polydactyly, rockerbottom feet, congenital
heart dx p51
127.
Peutz Jeghers syndrome: hamartomatous polyps in colon
and small intest, freckles on lips, hands, genitalia,
higher incidence of adeno CA of colon and other
malignancies, stomach, breast, ovaries p230
128.
Peyronie dx: subcutaneous fibrosis of dorsum of penis
p279
129.
PIG A: mutation = paroxysmal nocturnal hemoglobinuria
p161
130.
Plummer dx: combination of hyperthyroidism, nodular
goiter, absence of exophthalmos p315
131.
Plummer Vinson syndrome: iron deficient anemia
associated with upper::esophageal web p157
132.
Pompe dx: deficient a1,4 glucosidase, accumulation of
glycogen in liver, heart, skeletal muscle, cardiomegaly,
muscle hypotonia, spelnomegaly, intractable
hypoglycemia, death from cardiorespiratory failure
before age 3 p57
133.
Potter sequence: oligohydramnios causes fetus to be
smashed p257
134.
Prader willi syndrome: paternal transmission del
(15)(q11q13), hypogonad, hypotonia, mental
retardation, behavior probs, uncrontrolled appetite p53
135.
Ras oncogenes: oncogenes that code for p21 proteins
which are membrane signalers p93
136.
Raynaud disease: different in that it is the primary
disorder, recurrent vasospasm of small arteries and
venules, pallor, cyanosis, fingers and toes, young
healthy women p129
137.
Raynaud phenomenon: vasosmasm of small vessels, most
often in fingers, seen with autoimmune dx like SLE,
scleroderma and others (R in CREST), recurrent
vasospasm, always secondary to underlying disorder
p77 and p129
138.
139. Rb gene: retinoblastoma on chromosome 13 p95 and p352
Reed Sternburg cell: binucleated or multinucleated giant
cell seen in Hodgkin dx
140.
Reidel thyroiditis: thyroid replacement by fibrous tissue,
unkown origin, mimics CA p316
141.
Reinke crystal: intracytoplasmic inclusions seen in leydig
cell tumors p283
142.
Reiter syndrome: urethritis, conjunctivitis, arthritis,
associated with venereal or intestinal infection p354
143.
ret: protooncogene mutated in medulary thyroid CA
(MENII) p96
144.
145. ret PTC: associated with papillary thyroid CA
Reye syndrome: aspirin toxicity seen in kids after acute
febrile viral dx, microvesicular fatty change in liver and
encephalopathy p108
146.
Rotor syndrome: similar to Dubin Johnson with no black
liver p239
147.
Rouleaux formation: also seen in urine of MM, stacks of
RBCs, will have high ESR p175
148.
Sheehan syndrome: pituitary insufficiency post-partum,
low TSH ACTH p298 and 312
149.
Shy Drager syndrome: parkinsonism with autonomic
dysfunction and orthostatic hypotension p373
150.
Signet ring cell: mucinous cell, characteristic of stomach
CA met to ovary (krukenberg tumor) p224
151.
7
Simmonds dx: aka pituitary cachexia, generalized
panhypopituitarism p312
152.
153. Sipple syndrome: = MEN2a
Smudge cells: seen in CLL, leukemic B-cells that are
fragile p172
154.
Starry sky appearance: on lymph node biopsy, seen with
Burkitt lymphoma p179
155.
Stein Leventhal syndrome: aka polycystic ovary
syndrome, young women, amenorrhea, infertility,
obesity, hirsutism p295
156.
Still disease: variant of rheumatoid arthritis, aka juvenile
rheumatoid arthritis p354
157.
Sturge Weber syndrome: port wine stain on face,
ipsilateral glaucoma, vascular lesions of ocular
choroidal tissue, extensive hemangiomatous
involvement of meninges p337
158.
Takayasu arteritis: aka pulseless dx, inflammation and
stenosis of medium and large sized arteries, often aortic
arch thus aortic arch syndrome p129
159.
Tay Sachs dx: deficient hexosaminidase A, GM2
ganglioside accumulation, especially in neurons, CNS
degeneration, mental/motor deterioration, blindness,
cherry red spot on macula, death by 4 years of age p56
160.
Turcot syndrome: adenomatous polyps with tumors of
CNS p230
161.
Turner syndrome: 45 XO, female hypogonadism,
hypothyroid, short, webbed neck, 1* amenorrhea p52
162.
Um… see p 94: there’s like 15 different oncogenes listed,
knock yourself out
163.
Virchow node: superclavicular lymph node identifying
metastatic stomach CA p224
164.
Von economo encephalitis: infectious disorder, caused
postencephalitic parkinsonism p373
165.
Von Gierke dx: deficient glucose-6-phosphatase,
accumulation of glycogen in liver and kidney,
hepatomegaly, hypoglycemia p57
166.
Von Hippel Lindau dx: hemangioblastoma or cavernous
hemangioma of cerebellum, brainstem or retina,
adenomas, cysts in liver, kidney, pancreas, and other
organs, increased renal cell CA, gene = short arm of
chromosome 3 p55 and p127
167.
Von Recklinhousen dx: aka neurofibromatosis,
neurofibromas in skin, schwannomas of CN VIII, café
au lait spots, lisch nodules, skeletal disorders, other
tumors, mutated NF1 tumor suppressor gene, osteolytic
lesions, brown tumors p55 and p96 and 347
168.
Waldenstrom Macroglobulinemia: manifestation of
lymphplasmocytic lymphoma, B cell neoplasm p176
169.
Waterhouse Friderichsen syndrome: catastrophic
adrenal insuff and vascular collapse, hemorrhagic
necrosis of adrenal cortex p321
170.
Wegener granulomatosis: unknown etiology, necrotizing
granulomatous vasculitis of small to medium sized
vessels of the respiratory tract, kidneys, and other
organs, circulating C-ANCAs p128
171.
Werdnig Hoffman syndrome: aka infantile progressive
spinal muscular atrophy, autosomal recessive, LMN
disease, infants p373
172.
173. Wermer syndrome: = MEN1
Wernicke Korsakoff syndrome: thiamine deficiency,
cerebral dysfunction, aka alcoholic encephalopathy,
hemorrhagic lesions in the mamillary bodies,
confusion, ataxia, ophthalmoplegia, and memory loss
plus confabulation p 105 and p115
174.
Whipple dx: malabsorption syndrome, Tropheryma
wippelii bacilli, small intestine commonly affected,
arthralgias, cardiac, and neuro symptoms p227
175.
Whipple triad: seen in insulinoma, episodic
hyperinsulinemia and hypoglycemia, CNS dysfunction,
reversal of CNS probs with administration of glucose
p324
176.
177. Wilms tumor: clear cell renal tumor seen in kids p266
8
Wilson dx: autosomal recessive, hepatitis, accumulation of
copper due to transport problem, low ceruloplasmin
seen, kayser fleischer rings in eyes p245
178.
Wiskott Aldrich syndrome: x linked, aka
immunodeficiency with thrombocytopenia and eczema,
total immunoglobulins often normal, recurrent
infections p74
179.
WT1 and WT2: tumor suppressor mutated in wilms tumor
p96
180.
Zenker diverticulum: esophageal diverticulum just above
upper esoph sphincter p221
181.
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