FARR Classic Presentations Flashcards by Ray Egu

Abdominal pain, ascites, hepatomegaly

Budd-Chiari syndrome (posthepatic venous thrombosis)

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Achilles tendon xanthoma

Familial hypercholesterolemia (reduced LDL receptor signaling)

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Adrenal hemorrhage, hypotension, DIC

Waterhouse-Friderichsen syndrome (meningococcemia)

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Arachnodactyly, lens dislocation, aortic dissection,hyperflexible joints

Marfan’s syndrome (fibrillin defect)

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Athlete with polycythemia

2° to erythropoietin injection

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Back pain, fever, night sweats, weight loss

Pott’s disease (vertebral tuberculosis)

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Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

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Blue sclera

Osteogenesis imperfecta (type I collagen defect)

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Bluish line on gingiva

Burton’s line (lead poisoning)

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Bone pain, bone enlargement, arthritis

Paget’s disease ofbone (increased osteoblastic and osteoclastic activity)

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Bounding pulses, diastolic heart murmur, head bobbing

Aortic regurgitation

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

Systemic lupus erythematosus

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

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

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

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

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Calf pseudohypertrophy

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

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“Cherry-red spot” on macula

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

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Chest pain on exertion

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

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Chest pain, pericardia! effusion/friction rub, persistent fever following MI

Dressler’s syndrome (autoimmune-mediated post-MI fibrinous pericarditis, l-12 weeks after acute episode)

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Child uses arms to stand up from squat

Cowers’ sign (Duchenne muscular dystrophy)

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

“Slapped cheeks” (erythema infectiosum/fifth disease: parvovirus Bl9)

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Chorea, dementia, caudate degeneration

Huntington’s disease (autosomal-dominant CAG repeat expansion)

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Cold intolerance

Hypothyroidism

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Conjugate lateral gaze palsy, horizontal diplopia

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

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Continuous “machinery” heart murmur

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

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Cutaneous/dermal edema due to connective tissue deposition

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

Dark purple skin/mouth nodules

Kaposi's sarcoma (usually AIDS patients [MSM]: associated with HHV-8)

Deep, labored breathing/hyperventilation

Kussmaul breathing (diabetic ketoacidosis)

Dermatitis, dementia, diarrhea

Pellagra (niacin [vitamin B3] deficiency)

Dilated cardiomyopathy, edema, alcoholism or malnutrition

Wet beriberi (thiamine [vitamin B1 deficiency)

Dry eyes, dry mouth, arthritis

Sjogren's syndrome (autoimmune destruction of exocrine glands)

Dysphagia (esophageal webs), glossitis, iron deficiency anemia

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

Elastic skin, hypermobility of joints

Ehlers-Danlos syndrome (type III collagen defect)

Enlarged, hard left supraclavicular node

Virchow's node (abdominal metastasis)

Facial muscle spasm upon tapping

Chvostek's sign (hypocalcemia)

Fat, female, forty, and fertile

Cholelithiasis (gallstones)

Fever, cough, conjunctivitis, coryza, diffuse rash

Measles (Morbillivirus)

Fever, night sweats, weight loss

B symptoms (staging) of lymphoma

Fibrous plaques in soft tissue of penis

Peyronie's disease (connective tissue disorder)

Gout, mental retardation, self-mutilating behavior in a boy

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

Green-yellow rings around peripheral"cornea

Kayser-Fleischer rings (copper accumulation from Wilson's | disease)

Hereditary nephritis, sensorineural hearing loss, cataracts

Alport syndrome (mutation in a chain of collagen IV)

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

Hypoxemia, polycythemia, hypercapnia

"Blue bloater" (chronic bronchitis: hyperplasia of mucous | cells)

Indurated, ulcerated genital lesion

Nonpainful: chancre (1° syphilis, Treponema pallidwn) Painful, with exudate: chancroid (Haemophilus ducreyi)

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

Patau's syndrome (trisomy 1 3)

Infant with hypoglycemia, failure to thrive, and hepatomegaly

Cori's disease (debranching enzyme deficiency)

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

Edwards' syndrome (trisomy 18)

Jaundice, palpable distended non-tender gallbladder

Courvoisier's sign (distal obstruction ofbiliary tree) This sign implicated possible malignancy of the gall bladder or pancreas and the swelling is unlikely due to gallstones.

Large rash with bull's-eye appearance

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

Lucid interval after traumatic brain injury

``` Epidural hematoma (middle meningeal artery rupture) ```

Male child, recurrent infections, no mature B cells

Bruton's disease (X-Iinked agammaglobulinemia)

Muffled heart sounds, distended neck veins, hypotension

Beck's triad of cardiac tamponade

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

Gardner's syndrome (subtype of FAP)

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

Sheehan's syndrome (pituitary infarction)

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia

Multiple sclerosis

Oscillating slow/fast breathing

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

Painful blue fingers/toes, hemolytic anemia

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

Painful, pale, cold fingers/toes

Raynaud's phenomenon (vasospasm in extremities)

Painful, raised red lesions on pad of fingers/toes

Osler's node (infective endocarditis, immune complex | deposition)

Painless erythematous lesions on palms and soles

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Painless jaundice

Cancer of the pancreatic head obstructing bile duct

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria

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

Pancreatic, pituitary, parathyroid tumors

MEN l (autosomal dominant)

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

Nephrotic syndrome

Pink complexion, dyspnea, hyperventilation

"Pink puffer" (emphysema: centriacinar [smoking], panacinar [a1-antitrypsin deficiency])

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

Fanconi's syndrome (proximal tubular reabsorption defect)

Positive anterior "drawer sign"

Anterior cruciate ligament injury

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

Lichen planus

Ptosis, miosis, anhidrosis

Horner's syndrome (sympathetic chain lesion)

Pupil accommodates but doesn't react

Argyll Robertson pupil (neurosyphilis)

Rapidly progressive leg weakness that ascends following Gil upper respiratory infection

Guillain-Barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)

Rash on palms and soles

Coxsackie A, 2ary syphilis, Rocky Mountain spotted fever

Recurrent colds, unusual eczema, high serum IgE

Hyper-IgE syndrome (Job's syndrome: neutrophil chemotaxis | abnormality)

Reel "currant jelly" sputum in alcoholic or diabetic patients

Klebsiella pnewnoniae

Reel "currant jelly" stools

Acute mesenteric ischemia (adults), intussusception (infants)

Reel, itchy, swollen rash of nipple/areola

Paget's disease of the breast (represents underlying neoplasm)

Reel urine in the morning, fragile RBCs

Paroxysmal nocturnal hemoglobinuria

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

von Hippel-Linclau disease (dominant tumor suppressor gene | mutation)

Resting tremor, rigidity, akinesia, postural instability

Parkinson's clisease (nigrostriatal dopamine depletion)

Retinal hemorrhages with pale centers

Roth's spots (bacterial endocarditis)

Severe jaundice in neonate

Crigler- Najjar syndrome (congenital unconjugated | hyperbilirubinemia)

Severe RLQ pain with palpation of LLQ

Rovsing's sign (acute appendicitis)

Severe RLQ pain with rebound tenderness

McBurney's sign (appendicitis)

Short stature, t incidence oftumors/leukemia, aplastic anemia

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

Single palmar crease

Simian crease (Down syndrome)

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Kartagener's syndrome (clynein arm defect affecting cilia)

Skin hyperpigmentation, hypotension, fatigue

Addison's disease (lo adrenocortical insufficiency causes increased ACTH and increased a-MSH production)

Slow, progressive muscle weakness in boys

Becker's muscular dystrophy (X-Iinkecl missense mutation in | clystrophin; less severe than Duchenne's)

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

Koplik spots (measles; rubeola virus)

Smooth, flat, moist, painless white lesions on genitals

Condylomata lata (2° syphilis)

Splinter hemorrhages in fingernails

Bacterial endocarditis

"Strawberry tongue"

Scarlet fever, Kawasaki disease, toxic shock syndrome

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

Turner syndrome (45,XO)

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia)

Swollen gums, mucosal bleeding, poor wound healing, spots on skin

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

Swollen, hard, painful finger joints

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

Systolic ejection murmur (crescendo-decrescendo

Aortic valve stenosis

Thyroid and parathyroid tumors, pheochromocytoma

MEN 2A (autosomal dominant ret mutation)

Thyroid tumors, pheochromocytoma, gangl ioneuromatosis

MEN 2B (autosomal dominant ret mutation)

Toe extension/fanning upon plantar scrape

Babinski sign (UMN lesion)

Unilateral facial drooping involving forehead

Facial nerve (LMN CN VII palsy)

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

Vascular birthmark (port-wine stain)

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

Vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Weight loss, diarrhea, arthritis, fever, adenopathy

Whipple's disease (Tropheryma whipplei)

"Worst headache of my life"

Subarachnoid hemorrhage