Classic Presentations Flashcards
Classic Presentations
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Classic Presentations
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Classic Presentations
Achilles tendon xanthoma
Familial hypercholesterolemia (↓ LDL receptor signaling)
Classic Presentations
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Classic Presentations
Anaphylaxis following blood transfusion
IgA deficiency
Classic Presentations
Anterior “drawer sign” ⊕
Anterior cruciate ligament (ACL) injury
Classic Presentations
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome (fibrillin defect)
Classic Presentations
Athlete with polycythemia
2° to erythropoietin injection
Classic Presentations
Back pain, fever, night sweats
Pott disease (vertebral TB)
Classic Presentations
Bilateral acoustic schwannomas
Neurofibromatosis type 2
Classic Presentations
Bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Classic Presentations
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Classic Presentations
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Classic Presentations
Bluish line on gingiva
Burton line (lead poisoning)
Classic Presentations
Bone pain, bone enlargement, arthritis
Paget disease of bone (↑ osteoblastic and osteoclastic activity
Classic Presentations
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing
Aortic regurgitation
Classic Presentations
“Butterfly” facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Classic Presentations
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type I
Classic Presentations
Cafe-au-lait spots (unilateral), polyostic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation
Classic Presentations
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Classic Presentations
Cervical lymphadenopathy, desquamating rah, coronary aneurysms, red conjunctivae & tongue, hand-foot changes
Kawasaki disease (treat with IVIG and aspirin)
Classic Presentations
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Nieman-Pick (sphingomyelin accummulation), central retinal artery occlusion
Classic Presentations
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
Classic Presentations
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
Classic Presentations
Chest pain with ST depressions on EKG
Unstable angina (⊝ troponins) or NSTEMI (⊕ troponins)
Classic Presentations
Child uses arms to stand up from squat
Duchenne muscular dystrophy (Gower sign)
Classic Presentations
Child with fever later develops red rash on face that spreads to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by Parvovirus B19
Classic Presentations
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Classic Presentations
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Classic Presentations
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle diseaes (skeletal muscle glycogen phosphorylase deficiency)
Classic Presentations
Cold intolerance
Hypothyroidism
Classic Presentations
Conjugate horizontal gaze palsy; horizontal diplopia
Intrnuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
Classic Presentations
Continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
Classic Presentations
Cutaneous/dermal edema to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial]
Classic Presentations
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, ↑ 5-HIAA
Classic Presentations
Dark purple skin/mouth nodules in a patient with AIDS
Kaposi sarcoma (associated with HHV-8
Classic Presentations
Deep, labored breathing/hyperventilation
Diabetic ketoacidosis (Kussmaul respiration)
Classic Presentations
Dermatitis, dementia, diarrhea
Pellagra (niacin [vitamin B3 deficiency])
Classic Presentations
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [vitamin B1] deficiency
Classic Presentations
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Classic Presentations
Dry eyes, dry mouth, arthritis
Sjogren syndrome (autimmune destruction of exocrine glands)
Classic Presentations
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Classic Presentations
Elastic skin, hypermobility of joints, ↑ bleeding tendencies
Ehler-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype)
Classic Presentations
Enlarged, hard left suprclavicular node
Virchow node (abdominal metastasis)
Classic Presentations
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Classic Presentations
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)
Classic Presentations
Facial muscle spasm on tapping
Chvostek sign (hypocalcemia)
Classic Presentations
Fat, female, forty, fertile
Cholelithiasis (gallstones)
Classic Presentations
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
Classic Presentations
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Classic Presentations
Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Classic Presentations
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Classic Presentations
Golden brown rings around peripheral cornea
Wilson disease (Kayser-Fleischer rings due to copper accumulation)
Classic Presentations
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
Classic Presentations
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Petuz-Jeghers syndrome (inherited, benign polyposis, can cause bowel obstruction; ↑ cancer risk, mainly GI)
Classic Presentations
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Gaucher disease (glucocerebrosidase deficiency)
Classic Presentations
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Classic Presentations
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Classic Presentations
Hyperreflexia, hypertonia, Babinski reflex present
UMN damage
Classic Presentations
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Classic Presentations
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis (hyperplasia of mucous cells, “blue bloater”)
Classic Presentations
Indurated, ulcerated genital lesion
Nonpainful: chancre (1° C syphilis, Treponema pallidum)
Painful, with exudate: Chancroid (Haemophilus ducreyi)
Classic Presentations
Infant with clef lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Classic Presentations
Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphate deficiency, more severe)
Classic Presentations
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
Classic Presentations
Jaundice, palpable, distended, non-tender gallbladder
Courvoisier sign (distal malignant obstruction of biliary tree)
Classic Presentations
Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Classic Presentations
Lucid interval after traumatic brain injury
Epidural hematoma (middle meningeal artery rupture)
Classic Presentations
Male child, recurrent infections, no mature B cells
Bruton disease (X-linked agammaglobulinemia)
Classic Presentations
Mucosal bleeding and prolonged bleeding time
Glanzmann thromboasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Classic Presentations
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Classic Presentations
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP)
Classic Presentations
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Classic Presentations
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
Classic Presentations
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (pituitary infarction)
Classic Presentations
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Multiple sclerosis
Classic Presentations
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Classic Presentations
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Classic Presentations
Painful, raised red lesions on pads of fingers/toes
Osler nodes (infectious endocarditis, immune complex deposition)
Classic Presentations
Painless erythematous lesions on palm and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Classic Presentations
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Classic Presentations
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Classic Presentations
Pancreatic, pituitary, parathyroid tumors
MEN 1 (autosomal dominant)
Classic Presentations
Periorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Classic Presentations
Pink complexion, dyspnea, hyperventilation
Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [α1-antitrypsin deficiency)
Classic Presentations
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)
Classic Presentations
Pruritic, purple, polygonal planar papules and plaques (6 Ps)
Lichen planus
Classic Presentations
Ptosis, miosis, anhidrosis
Horner syndrome (sympathetic chain lesion)
Classic Presentations
Pupil accommodates but doesn’t react
Neurosyphilis (Argyll Robertson pupil)
Classic Presentations
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndreom (acute inflammatory demyelinating polyradiculopathy subtype)
Classic Presentations
Rash on palms and soles
Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Classic Presentations
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Classic Presentations
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Classic Presentations
Red “currant jelly” stools
Acute mesenteric ischemia (adults)
Intussusception (children)
Classic Presentations
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast (sign of underlying neoplasm)
Classic Presentations
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobuinuria
Classic Presentations
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Classic Presentations
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)
Classic Presentations
Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Classic Presentations
Severe jaundice in neonate
Crigler-Najjar syndreom (congenital unconjugated hyperbilirubinemia)
Classic Presentations
Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Classic Presentations
Severe RLQ with deep tenderness
McBurney sign (acute appendicitis)
Classic Presentations
Short stature, cafe au lait spots, thumb/radial defects, ↑ incidence of tumors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)
Classic Presentations
Single palmar crease
Down Syndrome
Classic Presentations
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Classic Presentations
Skin hyperpigmentation, hypotension, fatigue
1° adrenocortical insufficiency (eg Addison’s disease) → ↑ ACTH & α-MSH production
Classic Presentations
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)
Classic Presentations
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles [rubeola] virus)
Classic Presentations
Smooth, moist, painless, wart-like lesions on genitals
Condyloma lata (2° syphilis)
Classic Presentations
Splinter hemorrhages in fingernails
Bacterial endocarditis
Classic Presentations
“Strawberry tongue”
Scarlet fever
Kawasaki disease
Classic Presentations
Streak ovaries, congenital heart disease, horseshoe kidneys, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45, XO)
Classic Presentations
Sudden swollen/painful big toe joint, tophi
Gout/podagra (hyperuricemia)
Classic Presentations
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Classic Presentations
Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Classic Presentations
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Classic Presentations
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu syndrome
Classic Presentations
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation)
Classic Presentations
Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation)
Classic Presentations
Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Classic Presentations
Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy (UMN lesions spare the forehead)
Classic Presentations
Urethritis, conjunctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Classic Presentations
Vascular birthmark (port-wine stain) of the face
Neveus flammeus (benign, but associated with Sturge-Weber syndrome)
Classic Presentations
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Classic Presentations
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
Classic Presentations
“Worst headache of my life”
Subarachnoid hemorrhage