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Classic Presentations

QuestionAnswer
Abdominal pain, ascites, hepatomegaly Budd Chiari Syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma Familial Hypercholesterolemia IIa (↓LDL receptor signaling)
Adrenal hemorrhage, HyPOtention, DIC Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints Marfan's Syndrome (Fibrillin Defect)
Athlete with Polycythemia 2˚ to erythropoietin injection
Back pain, fever, night sweats, weight loss Pott's disease (Vertebral tuberculosis)
Bilateral hilar adenopathy, uveitis Sarcoidosis (noncaseating granulomas)
Blue Sclera Osteogenesis Imperfecta (type I collagen defect)
Bluish line on gingiva Burton's Line (Lead Poisoning)
Bone pain, bone enlargement, arthritis Paget's disease of bone (↑ osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing Aortic Regurgitation
"Butterfly" facial rash, Raynaud's phenomenon(vasospasm in extremities, painful pale cold fingers/toes)in a young female Systemic Lupus Erythematous
Cafe au lait spots, Lisch nodules(iris hamartoma) Neurofibromatosis I (+pheochromocytoma, optic gliomas)
Cafe au lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities McCune Albright Syndrome (mosaic G-protein signaling mutation)
Calf Psuedohypertrophy Muscular dystrophy (MC: Duchenne's):X-Linked recessive deletion of Dystrophin Gene
"Cherry Red Spot" on Macula Tay Sach's (Ganglioside accumulation) or Niemann-Pick (Sphingomyelin accumulation), Central Retinal Artery Occlusion
Chest pain on exertion Angina (Stable:w/moderate exertion, Unstable:w/minimal exertion)
Chest pain, pericardial effusion/friction rub, persistent fever following MI Dressler's Syndrome (autoimmune-mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat Gower's sign (Duchenne Muscular Dystrophy)
Child with fever later develops red rash on face that spreads to body "Slapped cheeks" (Erythema Infectiosum/5th Disease/Parvovirus B19)
Chorea, dementia, Caudate degeneration Huntington's Disease (AD, CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria McArdle's Disease (muscle glycogen phosphorylase deficiency)
Cold Intolerance Hypothyroidism
Conjugate Lateral Gaze palsy, horizontal diplopia Internuclear opthalmoplegia (damage to MLF; bilateral [Multiple Sclerosis], unilateral: [Stroke]
Continuous "Machinery" heart murmur PDA (close w/Indomethacin, open or maintain w/Misoprostol)
Cutaneous/Dermal Edema due to connective tissue deposition Myxedema (caused by HyPOthryroidism, Grave's disease[Pretibial])
Dark purple skin/mouth nodules Kaposi's sarcoma (usually AIDS patients [MSM], assoc w/HHV8)
Deep labored breathing/hyperventilation Kussmaul breathing (Diabetic Ketoacidosis)
Dermatitis, Dementia, Diarrhea Pellagra (Niacin B3 deficiency)
Dilated Cardiomyopathy, edema, alcoholism, or malnutrition Wet beriberi (Thiamine B1 deficiency)
Dog or Cat bite resulting in infection Pasteurella multocida (cellulitis at innoculation site)
Dry eyes, dry mouth, arthritis Sjogren's Syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophogeal webs), glossitis, iron deficiency anemia Plummer Vinson Syndrome (may progress to esophogeal 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)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-Cells Sezary Syndrome (Cutaneous T Cell Lymphoma) or Mycosis Fungoides
Facial muscle spasm upon tapping Chvostek's sign (Hypocalcemia)
Fat, female, fertile, 40 Cholelithiasis (Gallstones)
Fever, chills, headache, myalgia, following antibiotic treatment for syphilis Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
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)
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands Peutz Jehgers syndrome (inherited, benign polyposis can cause bowel obstruction; ↑cancer risk, mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms Gaucher's Disease (Glucocerebrosidase deficiency)
Hereditary nephritis, sensorinueral hearing loss, cataracts Alport Syndrome (mutation of α chain of collagen IV)
HyperPhagia, hyperSexuality hyperOrality, HyperDocility Kluver-Bucy Syndrome(Bilateral Amygdala lesion)
HyPER-Reflexia, HyPERtonia, Babinski sign+ UMN damage
HyPO-Reflexia, HyPOtonia, atrophy, fasiculations LMN damage
HyPOxemia, Polycythemia, Hypercapnia "Blue Bloater" (Chronic Bronchitis: hyperplasia of mucous cells/↑Reid Index)
Indurated , ulcerated genital lesion Nonpainful Chancre:(1˚Syphillis/Treponema pallidum), Painful with exudate-Chancroid:(Haemophylus ducreyi)
Infant w/ Cleft Lip/Palate, Microcephaly or Holoprosencephaly, Polydactyly, Cutis Aplasia Patau's Syndrome (Trisomy 13)
Infant w/ failure to thrive, hepatosplenomegaly, and neurodegeneration Niemann-Pick diease (genetic sphingomyelinase deficiency)
Infant w/ HyPOglycemia, failure to thrive, and hepatomegaly Cori's disease (debranching enzyme deficiency)
Infant w/ microcephaly, Rocker bottom feet, Clenched hands, and structural heart defect Edward's Syndrome (Trisomy 18)
Jaundice, Palpable distended non-tender gallbladder Courvoisier's sign (Distal obstruction of biliary tree)
Large rash w/ 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-linked Agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance) Pompe's Disease (Lysosomal α-1,4 glucosidase deficiency)
Neonate w/ arm paralysis following difficult birth Erb Duchenne palsy (superior trunk [C5-6] brachial plexus injury: "waiters tip")
No lactation postpartum, absent menstruation, cold intolerance Sheehan's Syndrome (pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia Multiple Sclerosis
Oscillating slow/fast breathing Cheyne-Stokes respirations (Central apnea in CHF or ↑ intracranial pressure)
Painful blue fingers/toes, hemolytic anemia Cold Agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma Pneumonia, 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/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 I (AD)
Periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia Nephrotic Syndrome
Pink complexion, Dyspnea, HyPERventilation "Pink Puffer" (Emphysema: Centriacinar[smoking], Panacinar[α1-antitrypsin deficiency]
Polyuria, renal tubular acidosis II, growth failure, electrolyte imbalances, hyPOphosphatemic rickets Fanconi's Syndrome (Proximal tubular reabsorption defect)
+ 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 accomodates but doesn't react Argyll Robertson pupil (Neurosyphilis)
Rapidly progressive leg weakness that ascends following GI/ Upper respiratory infection Guillan Barre syndrome(acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles Cocksackie A, 2˚ Syphilis, Rocky Mountain Spotted Fever
Recurrent colds, unusual eczema, high serum IgE Hyper IgE syndrome(Job's syndrome: neutrophil chemotaxis abnormality)
Red Currant Jelly sputum in alcoholic or diabetic patients Klebsiella pneumoniae
Red "Currant Jelly" stools Acute mesenteric ischemia(adults), intussusception(infants)
Red itchy swollen rash of nipple/areola Paget's disease of breast (represents underlying neoplasm)
Red urine in morning, fragile RBC's Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma(bilateral), hemangioblastomas, angiomatosis, pheochromocytoma von Hippel Lindau disease (dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability Parkinson's disease (nigrostriatal dopamine depletion)
Retinal hemorrhages with pale centers Roth spots (Bacterial Endocarditis)
Severe jaundice in neonate Criglar Najjar syndrome (congenital UNconjugated hyPERbilirubinemia)
Severe RLQ pain with palpation of LLQ Rosving's sign (Acute Appendicitis)
Severe RLQ pain with rebound tenderness McBurney's sign (Appendicitis)
Short stature,↑Incidence of tumors/leukemia, aplastic anemia Fanconi's anemia (genetic loss of DNA crosslink repair; often progress to AML)
Single palmar crease Simean crease (Down syndrome)
Situs inversus, chronic sinusitis, bronchiectasis, infertility Kartagener's syndrome (dynein arm defect affecting cilia)
Skin hyPERpigmentation, HyPOtension, fatigue Addison's disease (1˚ adrenocortical insufficiency causes ↑ACTH AND ↑ α-MSH production)
Slow progressive muscle weakness in Boys Becker's Muscular Dystrophy (X-linked missense mutation in dystrophin; less sever than Duchenne's)
Small irregular red 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 Scarlett Fever, Kawasaki's 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 (Vit C deficiency: can't hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints Osteoarthritis (Osteophytes on PIP[Bouchard nodes], DIP[Heberden nodes]
Systolic ejection murmur (Crescendo Decrescendo) Aortic Valve Stenosis
Thyroid and Parathyroid tumors, Pheochromocytoma MEN 2A (AD ret mutation)
Thyroid, Pheochromocytoma, ganglioneuromatosis MEN 2B (AD 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 assoc w/ HLA-B27
Vascular birthmark (Port Wine stain) Hemangioma (Benign, but assoc w/ Sturge Weber syndrome)
Vomiting blood following gastroesophageal lacerations Mallory Weiss syndrome (alcoholic and bulemic patients)
"Worst headache of my life" Subarachnoid hemorrhage
Created by: sdona2