Rapid review - key associations

Question 1

McCune Albright syndrome

Answer 1

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

Question 2

Gaucher disease

Answer 2

Glucocerebrosidase deficiency

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises

Question 3

Job syndrome

Answer 3

neutrophil chemotaxis abnormality

Recurrent cold (noninflamed) abscesses, unusual eczema, Hyper-IgE syndrome

Question 4

Erythema chronicum migrans

Answer 4

Bulls-eye

Question 5

Gardner syndrome (subtype of FAP)

Answer 5

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Question 6

Short stature, café-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia

Answer 6

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Question 7

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Answer 7

Mycosis fungoides (cutaneous T-cell lymphoma) or

Sézary syndrome (mycosis fungoides + malignant T cells in blood)

Question 8

CLL

Answer 8

Smudged cells

Question 9

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

Answer 9

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets

Question 10

Antimitochondrial antibodies (AMAs)

Answer 10

1° biliary cirrhosis (female, cholestasis, portal hypertension)

Question 11

Howell-Jolly bodies

Answer 11

Basophilic nuclear remnants in RBCs

due to splenectomy or nonfunctional spleen

Question 12

Soap bubble on Xray

Answer 12

Giant cell - usually benign

Question 13

Onion skin periosteal reaction

Answer 13

Ewing sarcoma (malignant small blue cell tumor)

Question 14

Anti-topoisomerase antibodies

Answer 14

Diffuse systemic scleroderma

Question 15

Circular grouping of dark tumor cells surrounding pale neurofibrils

Answer 15

Homer-Wright rosettes (neuroblastoma, medulloblastoma)

Question 16

“Spikes” on basement membrane, “dome-like” subepithelial deposits

Answer 16

Membranous nephropathy (nephrotic syndrome)

Question 17

“Wire loop” glomerular capillary appearance on light microscopy

Answer 17

Diffuse proliferative glomerulonephritis (usually seen with lupus)

Question 18

Linear appearance of IgG deposition on glomerular and alveolar basement membranes

Answer 18

Goodpasture syndrome

Question 19

“Lumpy bumpy” appearance of glomeruli on immunofluorescence

Answer 19

Poststreptococcal glomerulonephritis (due to deposition of IgG, IgM, and C3)

Question 20

Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis

Answer 20

Granulomatosis with polyangiitis (Wegener; PR3-ANCA/c-ANCA) and Goodpasture syndrome (anti–basement
membrane antibodies)

Question 21

Thyroid-like appearance of kidney

Answer 21

Chronic pyelonephritis

Question 22

Renal epithelial casts in urine

Answer 22

Intrinsic renal failure (eg, ischemia or toxic injury)

Question 23

Psammoma bodies

Answer 23

Meningiomas, papillary thyroid carcinoma, mesothelioma, papillary serous carcinoma of the endometrium and ovary

Question 24

Disarrayed granulosa cells arranged around collections of eosinophilic fluid

Answer 24

Call-Exner bodies (granulosa cell tumor of the ovary)

Question 25

Glomerulus-like structure surrounding vessel in germ cells

Answer 25

Schiller-Duval bodies (yolk sac tumor)

Question 26

HLA-DR3

Answer 26

Diabetes mellitus type 1, SLE, Graves disease, Hashimoto thyroiditis (also associated with HLA-DR5), Addison
disease

Question 27

HLA-DR4

Answer 27

Diabetes mellitus type 1, rheumatoid arthritis, Addison disease

Question 28

Bleeding disorder with GpIb deficiency

Answer 28

Bernard-Soulier syndrome (defect in platelet adhesion to von Willebrand factor)