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Classic Presentation

Clinical presentation vs. Diagnosis/disease

Clinical presentationDiagnosis/disease
Abdominal pain, ascites, hepatomegaly Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma Familial hypercholesterolemia (decrease LDL receptor signaling)
Adrenal hemorrrhage, hypotension, DIC Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints Marfan's syndrome (fibrillin defect)
Athlete with polycythemia 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 (collagen defect)
Bluish line on gingiva Burton's line (lead poisoning)
Bone pain, bone enlargement, arthritis Paget's disease of bone (increase osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing Aortic regurgitation (DE mussets sign)
"Butterfly" facial rash and Raynaud's phenomenon in a young female Systemic lupus erythematosus
Cafe-au-lait spots, Lisch nodules (iris hamartoma) Neurofibromatosis type I (+ pheochromoctoma, optic gliomas) Neurofibromatosis type II (+ bilateral acousic neuromas)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertrophy Muscular dystrophy (most commonly Duchenne's): X-linked recessive deletion of dystrophin gene
"Cherry-red spot" on macula Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion
Chest pain on exertion Angina (stable: moderate exertion; unstable: 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 develops red rash on face that spreads to body "Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19
Chorea, dementia, caudate degeneration Huntington's disease (autosomal-dominant CAG repeat expansion)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria McArdle's disease (muscle glycogen phophorylase deficiency)
Cold intolerance Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous "machinery" heart murmur PDA (close with indomethacin; open with misoprostol
Cutaneous/dermal edema due to connective tissue deposition Myxedema (caused by hypothyroidism, Graves' disease [periorbital])
Dark purple skin/mouth nodules Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)
Deep, labored breathing/hyperventilation Kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhea Pellagra (niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, polyneuropathy Wet beriberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection Pasteurella multocida (cellulitis at inoculation site)
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 metatasis)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides)
Facial muscles spasm upon tapping Chvostek's sign (hypocalcemia)
Fat, female, forty, and fertile Acute cholelithiasis (bile duct blockage)
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 (lymphoma)
Fibrous plaques in soft tissue of penis Peyronie's disease (connective tissue disorder)
Gout, mental retardation, self-mutilation 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-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms Gaucher's disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts Alport syndrome (mutation in α chain of collagen IV)
Hypercoagulability (leading to migrating DVTs and vaculitis Trousseau's sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocility Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, positive Babinski sign UMN damage
Hypertension, hypokalemia, metabolic alkalosis Conn's syndrome
Hyporeflexia, hypotonia, atrophy LMN damage
Hypoxemia, polycythemia, hypercapnia "blue bloater" (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion Nonpainful: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with failure to thrive, hepatosplenomegaly Niemann-Pick disease (genetic sphingomyelinase deficiency)
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)
Keratin pearls on a skin biopsy Squamous cell carcinoma
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-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
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)
Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)
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 increase 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 syndrome (vasospasm in extremities)
Painful, raised red lesions on palms and soles Osler's node (infective endocarditis)
Painless erythematous lesions on palms and soles Janeway lesions (infective endocarditis)
Painless jaundice Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child) Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors MEN 1 (autosomal dominant)
Pink complexion, dyspnea, hyperventilation "Pink puffer" (emphysema: centroacinar [smoking] panacinar [α1-antitrypsin deficiency])
Polyuria, acidosis, growth failure, electrolyte imbalances Fanconi's syndrome (proximal tubular reabsorption defect)
Positive anterior "drawer sign" Anterior cruciate ligament (ACL) injury
Ptosis, miosis, anhidrosis Horner's syndrome (sympathetic chain lesion)
Pupil accommodates but doesn't react Argyll Robertson pupil (neurosyphilis)
Rapidly porgressive leg weakness that ascends (following GI/upper respiratory infection) Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Rash on palms and soles Coxsackie A, 2° syphilis, Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE Hyper-IgE syndrom (Job's syndrome: neutrophil chemotaxis abnormality)
Red "currant jelly" sputum in alcoholic or diabetic patients Klebsiella pneumoniae
Red, itchy, swollen rash of nipple/areola Paget's disease of the breast (represents underlying neoplasm)
Red urine in the morning, fragile RBCs 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's spots (bacterial endocarditis)
Severe jaundice in neonate Crigler-Najjar syndrome (cogenital unconjungated hyperbilirubinermia)
Severe RLQ pain with rebound tenderness McBurney's sign (appendicitis)
Short stature, increase incidence of tumors/leukemia, aplastic anemia Fanconi's anemia (genetic loss of DNA crosslink repair; often progresses to AML)
SIngle palm crease Simian crease (Down Syndrome)
Situs inversus, chronic sinustis, bronchiectasis, infertility Kartagener's syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation Addison's disease (1° adrenocortical insufficiency causes increase ACTH and α-MSH production)
Slow, progressive muscle weakness in boys Becker's muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne's)
Small, irregular red spots on buccal/lingual mucosa with blu-white centers Koplik spots (measles; rubeola virus)
Smooth, flat, moist 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 Turner syndrome (45XO, short stature, webbed neck, lymphedema)
Sudden swollen/painful big toe joint, tophi Gout/podagra (hyperuricemia)
Swallen gums, mucous 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, pheochromcytoma MEN 2A (autosomal dominant ret mutation)
Thyroid tumors, pheochromocytoma, ganglioneuromatosis MEN 2B (autosomal dominant ret mutation)
Toe extension/fanning upon plantar scrape Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead Bell's palsy (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 esophagogastic lacerations Mallory-Weiss syndrome (alcoholic and bulimic patients)
"Waxy" casts with very low urine flow Chronic end-stage renal disease
WBC casts in urine Acute pyslonphritis
Weight loss, diarrhea, arthritis, fever, adenopathy Whipple disease (Tropheryma whippelii)
"Worst headache of my life" Subarachnoid hemorrhage
Created by: zdevilbiss