First Aid: Usmle - Clinical Presentation | Diagnosis/disease

Front 1

Abdominal pain, ascites, hepatomegaly

Back 1

Budd-Chiari syndrome (posthepatic venous thrombosis)

Front 2

Achilles tendon xanthoma

Back 2

Familial hypercholesterolemia (Decreased LDL receptor signaling)

Front 3

Adrenal hemorrhage, hypotension, DIC

Back 3

Waterhouse-Friderichsen syndrome (meningococcemia)

Front 4

Anterior “drawer sign” +

Back 4

Anterior cruciate ligament injury

Front 5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Back 5

Marfan syndrome (fibrillin defect)

Front 6

Athlete with polycythemia

Back 6

2° to erythropoietin injection

Front 7

Back pain, fever, night sweats, weight loss

Back 7

Pott disease (vertebral TB)

Front 8

Bilateral hilar adenopathy, uveitis

Back 8

Sarcoidosis (noncaseating granulomas)

Front 9

Blue sclera

Back 9

Osteogenesis imperfecta (type I collagen defect)

Front 10

Bluish line on gingiva

Back 10

Burton line (lead poisoning)

Front 11

Bone pain, bone enlargement, arthritis

Back 11

Paget disease of bone (Increased osteoblastic and osteoclastic activity)

Front 12

Bounding pulses (strong & forceful), diastolic heart murmur, head bobbing

Back 12

Aortic regurgitation

Front 13

“Butterfly” facial rash and Raynaud phenomenon in a young female

Back 13

Systemic lupus erythematosus

Front 14

Café-au-lait spots, Lisch nodules (iris hamartoma)

Back 14

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

Front 15

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

Back 15

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Front 16

Calf pseudohypertrophy

Back 16

Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene

Front 17

“Cherry-red spots” on macula

Back 17

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Front 18

Chest pain on exertion

Back 18

Angina (stable: with moderate exertion; unstable: with minimal exertion)

Front 19

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Back 19

Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1–12 weeks after acute episode)

Front 20

Child uses arms to stand up from squat

Back 20

Gowers sign (Duchenne muscular dystrophy)

Front 21

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

Back 21

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus B19)

Front 22

Chorea, dementia, caudate degeneration

Back 22

Huntington disease (autosomal dominant CAG repeat expansion)

Front 23

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

Back 23

McArdle disease (muscle glycogen phosphorylase deficiency)

Front 24

Cold intolerance

Back 24

Hypothyroidism

Front 25

Conjugate lateral gaze palsy, horizontal diplopia

Back 25

Internuclear ophthalmoplegia (damage to medial longitudinal fasciculus; bilateral [multiple sclerosis], unilateral [stroke])

Front 26

Continuous “machine-like” heart murmur

Back 26

PDA (close with indomethacin; open or maintain with misoprostol)

Front 27

Cutaneous/dermal edema due to connective tissue deposition

Back 27

Myxedema (caused by hypothyroidism, Graves disease [pretibial myxedema])

Front 28

Dark purple skin/mouth nodules in a patient with AIDS

Back 28

Kaposi sarcoma, associated with HHV-8

Front 29

Deep, labored breathing/hyperventilation

Back 29

Kussmaul respirations (diabetic ketoacidosis)

Front 30

Dermatitis, dementia, diarrhea

Back 30

Pellagra (niacin [vitamin B3] deficiency)

Front 31

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Back 31

Wet beriberi (thiamine [vitamin B1] deficiency)

Front 32

Dog or cat bite resulting in infection

Back 32

Pasteurella multocida (cellulitis at inoculation site)

Front 33

Dry eyes, dry mouth, arthritis

Back 33

Sjögren syndrome (autoimmune destruction of exocrine glands)

Front 34

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

Back 34

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Front 35

Elastic skin, hypermobility of joints

Back 35

Ehlers-Danlos syndrome (type III collagen defect)

Front 36

Enlarged, hard left supraclavicular node

Back 36

Virchow node (abdominal metastasis)

Front 37

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells

Back 37

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

Front 38

Facial muscle spasm upon tapping

Back 38

Chvostek sign (hypocalcemia)

Front 39

Fat, female, forty, and fertile

Back 39

Cholelithiasis (gallstones)

Front 40

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

Back 40

Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)

Front 41

Fever, cough, conjunctivitis, coryza, diffuse rash, Koplik spots (Buccal Mucosa)

Back 41

Measles

Front 42

Fever, night sweats, weight loss

Back 42

B symptoms (staging) of lymphoma

Front 43

Fibrous plaques in soft tissue of penis

Back 43

Peyronie disease (connective tissue disorder)

Front 44

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

Back 44

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

Front 45

Green-yellow rings around peripheral cornea

Back 45

Kayser-Fleischer rings (copper accumulation from Wilson disease)

Front 46

Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands

Back 46

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; Increased cancer risk, mainly GI)

Front 47

Hepatosplenomegaly, osteoporosis, neurologic symptoms

Back 47

Gaucher disease (glucocerebrosidase deficiency -> lysosomal storage diseasecharacterized by an accumulation of glucocerebrosides.)

Front 48

Hereditary nephritis, sensorineural hearing loss, cataracts

Back 48

Alport syndrome (mutation in collagen IV)

Front 49

Hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 49

Klüver-Bucy syndrome (bilateral amygdala lesion)

Front 50

Hyperreflexia, hypertonia, Babinski sign present

Back 50

UMN damage

Front 51

Hyporeflexia, hypotonia, atrophy, fasciculations (small, local, involuntary twitch)

Back 51

LMN damage

Front 52

Hypoxemia, polycythemia, hypercapnia (high CO2)

Back 52

“Blue bloater” (chronic bronchitis: hyperplasia of mucous cells)

Front 53

Indurated, ulcerated genital lesion

Back 53

SIDE 1: Nonpainful chancre (1° syphilis, Treponema pallidum)

SIDE 2: Painful chancroid with exudate (Haemophilus ducreyi)

Front 54

Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Back 54

Patau syndrome (trisomy 13)

Front 55

Infant with failure to thrive, hepatosplenomegaly, and neurodegeneration

Back 55

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Front 56

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Back 56

Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)

Front 57

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

Back 57

Edwards syndrome (trisomy 18)

Front 58

Jaundice, palpable distended non-tender gallbladder

Back 58

Courvoisier sign (distal obstruction of biliary tree)

Front 59

Large rash with bull’s-eye appearance

Back 59

Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

Front 60

Lucid interval after traumatic brain injury

Back 60

Epidural hematoma (middle meningeal artery rupture)

Front 61

Male child, recurrent infections, no mature B cells

Back 61

Bruton disease (X-linked agammaglobulinemia)

Front 62

Mucosal bleeding and prolonged bleeding time

Back 62

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

Front 63

Muffled heart sounds, distended neck veins, hypotension

Back 63

Beck triad of cardiac tamponade

Front 64

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

Back 64

Gardner syndrome (subtype of FAP)

Front 65

Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

Back 65

Pompe disease (lysosomal α-1,4-glucosidase deficiency)

Front 66

Neonate with arm paralysis following difficult birth

Back 66

Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury: “waiter’s tip”)

Front 67

No lactation postpartum, absent menstruation, cold intolerance

Back 67

Sheehan syndrome (pituitary infarction)

Front 68

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Back 68

Multiple sclerosis

Front 69

Oscillating slow/fast breathing

Back 69

Cheyne-Stokes respirations (central apnea in CHF or increased intracranial pressure)

Front 70

Painful blue fingers/toes, hemolytic anemia

Back 70

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

Front 71

Painful, pale, cold fingers/toes

Back 71

Raynaud phenomenon (vasospasm in extremities, response to cold or emotional stress, can be 2° to connective tissue disease, SLE, or CREST)

Front 72

Painful, raised red lesions on pad of fingers/toes

Back 72

Osler nodes (infective endocarditis, immune complex deposition)

Front 73

Painless erythematous lesions on palms and soles

Back 73

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Front 74

Painless jaundice

Back 74

Cancer of the pancreatic head obstructing bile duct

Front 75

Palpable purport (small hemorrhages) on buttocks/legs, joint pain, abdominal pain (child), hematuria (kidney involvement)

Back 75

Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)

Front 76

Pancreatic, pituitary, parathyroid tumors

Back 76

MEN 1 (autosomal dominant)

Front 77

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

Back 77

Nephrotic syndrome

Front 78

Pink complexion, dyspnea, hyperventilation

Back 78

“Pink puffer” (emphysema: centriacinar [smoking], panacinar [α1-antitrypsin deficiency])

Front 79

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

Back 79

Fanconi syndrome (proximal tubular reabsorption defect)

Front 80

Pruritic, purple, polygonal planar papules and plaques (6 P’s)

Back 80

Lichen planus

Front 81

Ptosis, miosis, anhidrosis

Back 81

Horner syndrome (sympathetic chain lesion)

Front 82

Pupil accommodates but doesn’t react

Back 82

Argyll Robertson pupil (neurosyphilis)

Front 83

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

Back 83

Guillain-Barré syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Front 84

Rash on palms and soles

Back 84

Coxsackie A, 2° syphilis, Rocky Mountain spotted fever

Front 85

Recurrent colds, unusual eczema, high serum IgE

Back 85

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

Front 86

Red “currant jelly” sputum in alcoholic or diabetic patients

Back 86

Klebsiella pneumoniae

Front 87

Red “currant jelly” stools

Back 87

Acute mesenteric ischemia (adults), intussusception (infants, telescoping of the intestine)

Front 88

Red, itchy, swollen rash of nipple/areola

Back 88

Paget disease of the breast (sign of underlying neoplasm)

Front 89

Red urine in the morning, fragile RBCs

Back 89

Paroxysmal nocturnal hemoglobinuria

Front 90

Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma

Back 90

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

Front 91

Resting tremor, rigidity, akinesia, postural instability

Back 91

Parkinson disease (nigrostriatal dopamine depletion)

Front 92

Retinal hemorrhages with pale centers

Back 92

Roth spots (bacterial endocarditis)

Front 93

Severe jaundice in neonate

Back 93

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 94

Severe RLQ pain with palpation of LLQ

Back 94

Rovsing sign (acute appendicitis)

Front 95

Severe RLQ pain with rebound tenderness

Back 95

McBurney sign ( McBurney's point (1), located two thirds the distance from the umbilicus (2) to the rightanterior superior iliac spine (3),acute appendicitis)

Front 96

Short stature, increased incidence of tumors/leukemia, aplastic anemia

Back 96

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

Front 97

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Back 97

Kartagener syndrome (dynein arm defect affecting cilia)

Front 98

Skin hyperpigmentation, hypotension, fatigue

Back 98

Addison disease (1° adrenocortical insufficiency causes high ACTH and high α-MSH production)

Front 99

Slow, progressive muscle weakness in boys

Back 99

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

Front 100

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

Back 100

Koplik spots (measles; rubeola virus)

Front 101

Smooth, flat, moist, painless white lesions on genitals

Back 101

Condylomata lata (2° syphilis)

Front 102

Splinter hemorrhages in fingernails

Back 102

Bacterial endocarditis

Front 103

“Strawberry tongue”

Back 103

Scarlet fever, Kawasaki disease, toxic shock syndrome

Front 104

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth*, short stature, webbed neck, lymphedema

Back 104

Turner syndrome (45,XO)

Front 105

Sudden swollen/painful big toe joint, tophi

Back 105

Gout/podagra (hyperuricemia)

Front 106

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Back 106

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

Front 107

Swollen, hard, painful finger joints

Back 107

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Front 108

Systolic ejection murmur (crescendo-decrescendo)

Back 108

Aortic valve stenosis

Front 109

Thyroid and parathyroid tumors, pheochromocytoma

Back 109

MEN 2A (autosomal dominant ret mutation)

Front 110

Thyroid tumors, pheochromocytoma, ganglioneuromatosis

Back 110

MEN 2B (autosomal dominant ret mutation)

Front 111

Toe extension/fanning upon plantar scrape

Back 111

Babinski sign (UMN lesion)

Front 112

Unilateral facial drooping involving forehead

Back 112

Facial nerve (LMN CN VII palsy)

Front 113

Urethritis, conjunctivitis, arthritis in a male

Back 113

Reactive arthritis associated with HLA-B27

Front 114

Vascular birthmark (port-wine stain)

Back 114

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Front 115

Vomiting blood following gastroesophageal lacerations

Back 115

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Front 116

Weight loss, diarrhea, arthritis, fever, adenopathy

Back 116

Whipple disease (Tropheryma whipplei)

Front 117

“Worst headache of my life”

Back 117

Subarachnoid hemorrhage