USMLE Step 1 Rapid Review

Abdominal pain, ascites, hepatomegaly

Budd-Chiari Syndrome (posthepatic venous thrombosis, can be related to Polycythemia vera)

Achilles tendon Xanthoma

Familial Hyper cholesterolemia (low LDL receptor signaling)

AD

Adrenal hemorrhage, hypotension, DIC

Waterhouse-Frieerichsen syndrome (Neisseria meningitidis)

Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible joints, pectus excavatum

Marfan Syndrome (fibrillin defect)

AD

Bilateral acoustic schwannomas

Neurofibromatosis type 2

occur in cerebellopontine angle, S100 marker

Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D), interstitial fibrosis, erythema nodosum, high CD4

Sarcoidosis (non-caseating granulomas)

Black eschar on face of patient with diabetic ketoacidosis

Mucor or Rhizopus fungal infection

Travels through cribiform plate vessels

Blue sclera

Osteogenesis Imperfecta (Type I collagen defect forming triple helix)

Blue due to exposure of choroidal veins

Bluish line on gingiva and basophilic stippling

Burton line (lead poisoning)

Basophilic stippling (rRNA remnants)

Constipation, anemia, CNS impairment

Bone pain, bone enlargement (hat size or hearing loss), arthritis

Paget disease of bone (Increased osteoclastic, then osteoblastic activity)

Osteosarcoma or heart failure

"Butterfly" facial rash or discoid rash and Raynaud phenomenon in a young female

Systemic lupus erythematosus

Type III Hypersensitivity (antigen-antibody complexes deposit) with glomerulonephritis

Type II hypersensitivity with autoimmune hemolysis

Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas

Neurofibromatosis Type I, pheochromocytoma, optic gliomas

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

McCune-Albright syndrome

(mosaicism, G-protein signaling mutation)

Calf pseudohypertrophy

Muscular dystrophy (Duchenne, due to X-linked frameshift > truncated dystrophin)

Dilated cardiomyopathy (DCM)

High CK

Cervical lymphadenopathy, desquamating rash on palms and soles, coronary aneurysms, red conjuctivae, and strawberry tongue

Kawasaki disease (treat with IVIG and aspirin which inhibits TXA2)

"Cherry-red spots" on macula

Tay-Sachs (ganglioside accumulation - NO hepatosplenomegaly)

Niemann-Pick (sphingomyelin accumulation w/ hepatosplenomegaly)

Central retinal artery occlusion

Chest pain on exertion

Angina

stable: with moderate exertion, cellular swelling indicates reversibility, atherosclerosis;

unstable: with minimal exertion or at rest, partial occlusion

Chest pain, pericardial effusion/friction rub, persistent fever following MI (weeks later)

Dressler syndrome

(autoimmune mediated post-MI fibrinous pericarditis, 2-12 weeks after acute episode)

Chest pain with ST depressions EKG

Subendocaridal ischemia

Unstable angina (troponins -, reversible) and NSTEMI (troponins +, irreversible)

Child with fever later develops red rash on face that spreads to body

"Slapped cheeks" (Erythema infectiosum/fifth disease: parvovirus B19)

Single-stranded DNA virus

Aplastic Anemia in Sickle Cell, B-thalessemia

Chorea, dementia, caudate degeneration

Huntington disease (AD, CAG repeat expansion)

Hemiballismus caused by subthalamic nuclei (STN)

Loss of GABAergic neurons

Chorioretinitis, hydrocephalus (CSF acculmulation > UMN injury), intracranial calcifications

Congenital Toxoplasmosis

Chronic exercise intolerance with myalgia, painful cramps, myoglobinuria, arrythemia

AR McArdle disease

(skeletal muscle glycogen phosphorylase deficiency)

-defect in anaerobic glycogen metabolism

Cold intolerance, weight gain, bradycardia, facial myxedema, hypercholesterolemia

Hypothyroidism

Dx: Thyroxine (T4)

Conjugate horizontal gaze palsy, horizontal diplopia

Internuclear opthalmoplegia

(damage to MLF; may be unilateral or bilateral)

Continuous "machine-like"heart murmur

PDA (close with indomethacin; open or maintain with PGE analogs)

Congenital Rubella

Late cyanosis in lower extremity

failure of branchial arch 6

Cutaneous/dermal edema due to connective tissue deposition

Myxedema

(caused by hypothyroidism, Graves disease [pretibial])

Cutaneous flushing, diarrhea, bronchospasm

Carcinoid syndrome

(right-sided cardiac valvular fibrous lesions, Increased 5-HIAA in urine, 5-HT in serum)

Requires mets from GI to liver

Dark purple skin/ mouth nodules in a patient with AIDs

Kaposi Sarcoma, associated with HHV-8

Endothelial cell tumor, not of blood vessels (will not blanche)

Spindle cells

Spreads via blood

Deep, labored breathing/hypoventilation

Kussmaul respirations (diabetic ketoacidosis)

Mild = glossitis

Severe = Broad collar Dermatitis, dementia, diarrhea,

Pellagra (Niacin [B3] Deficiency)

Caused by Hartnups (dec trp met) or Isoniazid drug (decr B6)

over dependence of corn as a staple food

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet Beriberi

(Thiamine [B1] Deficiency)

Dry eyes, dry mouth, arthritis, recurrent dental caries

Sjogren syndrome

(autoimmune destruction of exocrine glands)

Can have RF, Anti-SSA or SSB

Lymphocytic sialadenitis

Risk of B-cell lymphoma

Dysphagia (esophageal webs), glossitis (beefy red tongue), iron deficiency anemia (spoon nails)

Plummer-Vinson syndrome

(may progress to esophageal squamous cell carcinoma)

Elastic skin, hyper-mobility of joints, increased bleeding tendency

Ehlers-Danlos syndrome

(type V collagen defect, type III collagen defect seen in vascular ED)

Pro collagen molecules are not cleaved (N/C removal impaired)

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

Episodic vertigo, tinnitus, hearing loss

Meniere disease:

excess of endolymph fluid in the inner ear

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells

Mycosis fungoides (Pautrier-cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides and malignant T cells with cerebriform nuclei in blood)

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction

(rapid lysis of spirochetes results in endotoxin release)

Fever, cough, conjunctivitis, coryza, diffuse rash

(coryza = rhinitis = irritation and inflammation of the mucous membr in the nose)

Measles (rubeola)

Koplik spots (white lesions on buccal mucosa)

Risk of subacute sclerosing panencephalitis (viral inclusions in white and gray matter)

Fusion protein and HA (Hemagglutinin for binding) virulence factors

Fibrous plaques in soft tissue of penis with abnormal curvature

Peyronie disease (connective tissue disorder)

Golden brown rings around peripheral cornea

Kayser-Fleischer rings (copper accumulation from Wilson disease, check ceruloplasmin)

Risk of basal Ganglia atrophy

Gout, intellectual disability, self-mutilating behavior in a boy

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Build up of hypoxanthine and guanine

Urate crystals on UA

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia

Peutz-Jeghers syndrome

(inherited, benign polyposis can cause bowel obstruction, increased cancer risk-mainly GI)

Hepatosplenomgaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises in child

Gaucher disease macrophage (glucocerebrosidase deficiency)

#1 lysosomal storage disease

Build up of glucocerbroside

"Crinkled tissue paper cells"

Hereditary nephritis, sensorineural hearing loss, cataracts in boys

Alport syndrome (mutation in collagen IV)

X-linked

Irregular thickening of GBM

Basket Weave (thinning) on EM

Isolated hematuria

Hyperphagia, hyper-sexuality, hyperorality, hyperdocility

Kluver-Bucy Syndrome

(bilateral amygdala lesion)

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN Damage

Hypoxemia, polycythemia, hypercapnia

"Blue bloater"

(chronic bronchitis: hyperplasia of mucous cells)

Clinical diagnosis from productive cough in 3+ months in at least 2 consecutive years

Indurated, ulcerated genital lesion

Nonpainful: chancre (syphyilis)

Painful, exudate: chancroid (Haemophilus ducreyi)

Infant with "cherry-red" spot on macula, hepatosplenomegaly, and neurodegeneration

Niemann-Pick disease

(genetic sphingomyelinase deficiency)

Foam cells

Infant with cleft lip/palate, microcephaly or holoprosencephaly (1 hemisphere), polydactyly, cutis aplasia

Patau syndrome (Trisomy 13)

Mnemonic: P=puberty at 13

Infant with hypoglycemia, hepatomegaly (glycogen in liver), AR

Cori disease III (debranching enzyme deficiency)

Von Gierke disease IV (glucose-6-phosphate deficiency in ER, more severe with increased blood lactate)

Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect

Edwards Syndrome (trisomy 18)

Mnemonic: E=election age at 18

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign

(distal obstruction of biliary tree)

Male child, recurrent bacterial and enterovirus/giardia (lack of IgA) infections after 6 months of life, no mature B cells

Bruton tyrosine kinase disease

(X-linked agammaglobulinemia)

Lack of immunoglobulin, Tx: IVIG

Mucosal bleeding and prolonged bleeding time

Glanzmann thrombasthenia

(defect in platelet aggregation due to lack of GpIIb/IIIa)

Muffled heart sounds, distended neck veins, hypotension

Beck triad of cardiac tamponade

AND PULSUS PARADOXUS

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

Gardner syndrome

(subtype of FAP)

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

AR Pompe disease II (lysosomal alpha-1,4-glucosidase deficiency)

Can't breakdown lysosomes to release glycogen in liver or muscle (PAS+)

Sudden death in young athletes

Differential: Myocete disarray (B-myosin heavy chain or myosin-binding protein C mutation)

Tx: replace enzyme

Neonate with arm paralysis following difficult birth

Erb-Duchenne palsy

(superior trunk [C5-C6] brachial plexus injury: "waiter's tip")

No lactation postpartum, absent menstruation, cold intolerance, loss of pubic hair

Sheehan syndrome (pituitary infarction)

Multiple sclerosis

Type IV hypersensitivity

Dx: Oligoclonal IgG bands and periventricular plaques on MRI

Painful blue fingers/toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)

Painful fingers/toes changing color from blue to white to red with cold or stress

Raynaud phenomenon (vasospasm in extremities)

Painful, raised red lesions on pads of fingers/toes

Osler nodes (infective endocarditis, immune complex deposition)

Painless erythameatous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/microabscesses)

Painless jaundice

Cancer of the pancreatic head obstructing the bile duct

Palpable purpora on buttocks/legs, joint pain, abdominal pain (child), hematuria (IgA nephropathy)

Henoch-Schonlein purpura (IgA immune complex deposition, vasculitis effecting skin and kidneys)

Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Nephrotic syndrome

Pink complexion, dyspnea, hyperventilation

"Pink puffer" (emphysema: centracinar [smoking], panacinar [alpha-1 antitrypsin deficiency])

Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances (overexcretion of everything), hypophosphatemic rickets

Fanconi syndrome (multiple combined dysfunction of the PCT)

Pruritic, purple, polygonal planar papules and plaques - Lichen planus

Sawtooth infilitrate of lymphocytes at dermal-epidermal junction

Hep C association

Ptosis, miosis, anhidrosis (no sweating)

Horner syndrome (sympathetic chain lesion)

Pupil accommodates but doesn't react

Argyll Roberson pupil (neurosyphilis)

Rapidly progressive limb weakness that ascends following GI/upper respiratory infection

Guillain-Barre syndrome

Autoimmune > molecular mimicry

Rash on palms and soles

Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever

Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE, primary teeth

Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)

STAT3 mutation > low Th17

Red "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pneumonia

Red "currant jelly" stools

Acute mesenteric ischemia (adults), intussusception (children)

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

Red urine in the morning, fragile RBCs, risk of thrombosis and AML, hemosiderosis (iron deposition)

Paroxysmal nocturnal hemoglobinuria

DAF (GPI-anchor) deficiency due to myeloid stem cell

Acidosis at night, activates complement

Dx: CD55 (DAF)

Tx: Eculizumab

Renal cell carcinoma (bilateral), hemangioblastomas in retina/spine, angiomatosis, pheochromocytoma

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Resting tremor, rigidity, akinesia, postural instability, shuffling gait

Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

Severe jaundice in neonate

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Absent liver conjugation enzyme

AR - lack of UGT enzyme

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

Fecaliths block lumen > bacterial infection

Severe RLQ pain with rebound tenderness

McBurney's sign (acute appendicitis)

Fecaliths block lumen > bacterial infection

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

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

Single palmar crease, epicanthal folds, excess skin at neck, protruding tongue, upslanting palpebral fissures, ostium PRIMUM ASD (inferior part), duodenal atresia

Down syndrome (trisomy 21), VSD > 50%

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener syndrome (dynein arm defect affecting cilia)

Skin hyperpigmentation, hypotension, fatigue

Primary Adrenocortical insufficiency (e.g., Addison disease) causes increased ACTH and increased alpha-MSH production (skin pigment from POMC)

TB is most common cause in developing

Slow, progressive muscle weakness in boys

Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchenne)

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Koplik spots (measles, rubeola)

Vitamin A reduces morbidity

Virulence: HA and Fusion protein

Smooth, moist, painless, wart-like white lesions on genitals

Condylomata lata (secondary syphilis)

Splinter hemorrhages in fingernails

Bacterial endocarditis

"Strawberry tongue"

Scarlet fever, Kawasaki disease

Streak ovaries, congenital heart disease (aortic dissection or bicuspid aortic valve), horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema

Turner Syndrome (45 X,O)

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia - monosodium urate)

Precipitated by alcohol or meat (compete with uric acid for excretion in kidney)

Swollen gums, mucosal bleeding, poor wound healing, petechiae, corkscrew hair

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

Ascorbic Acid