High Yield Medical Diseases and Disorders

High Yield Diseases and Disorders

Disease/DisordersHigh Yield Info
Acute AppendicitisRovsing sign (acute appendicitis): Severe RLQ pain with palpation of LLQ

McBurney sign (acute appendicitis): Severe RLQ pain with deep tenderness
Acute mesenteric ischemia (adults), intussusception (children)Red “currant jelly” stools
AMLAuer rods (AML, especially the promyelocytic [M3] type): Azurophilic peroxidase (+) granular inclusions in granulocytes and myeloblasts
Adrenocortical Insufficiency1º adrenocortical insufficiency (ed, Addison disease) causes ↑ ACTH and ↑ α-MSH production): Skin hyperpigmentation, hypotension, fatigue
Alport syndrome (mutation in collagen IV)Hereditary nephritis, sensorineural hearing loss, cataracts
Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)“Bamboo spine” on x-ray
Antineutrophil cytoplasmic antibodies (ANCAs)Microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) (MPO-ANCA/p-ANCA); granulomatosis with polyangiitis (Wegener; PR3-ANCA/c-ANCA)
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)Chest pain on exertion
Anterior cruciate ligament (ACL) injuryAnterior “drawer sign” +
Aortic regurgitationBounding pulses, widening pulse pressure, diastolic heart murmur, head bobbing
Aortic stenosisSystolic ejection murmur (crescendo-decrescendo)
Athlete with polycythemiaSecondary to erythropoietin injection (blood doping)
Bacterial EndocarditisRoth spots (bacterial endocarditis): Retinal hemorrhages with pale centers

Splinter hemorrhages in fingernails
Biliary Cirrhosis1º biliary cirrhosis (female, cholestasis, portal hypertension); also associated with pruritis and Sjögren syndrome: Antimitochondrial antibodies (AMAs)
BronchitisChronic bronchitis (hyperplasia of mucous cells, “blue bloaters”): Hypoxemia, polycythemia, hypercapnia
Bruton disease (X-linked agammaglobulinemia)Male child, recurrent infections, no mature B cells
Cancer of the pancreatic head obstructing bile ductPainless jaundice
Carcinoid syndrome (right-sided cardiac valvular lesions, ^ 5-HIAA)Cutaneous flushing, diarrhea, bronchospasm
Cardiac TamponadeBeck triad: Muffled heart sounds, distended neck veins, hypotension
Celiac disease (diarrhea, weight loss)Anti-transglutaminase/anti-gliadin/anti-endomysial antibodies
Cholelithiasis (gallstones)Fat, female, forty, and fertile
Chvostek sign (hypocalcemia)Facial muscle spasm upon tapping
Clostridium difficile infection (can create pseudomembrane)Abd pain, diarrhea, leukocytosis, recent antibiotic use
Cold agglutination disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)Painful blue fingers/toes, hemolytic anemia
Colorectal cancer (usually left-sided)“Apple core” lesion on barium enema x-ray
Courvoisier sign (distal malignant obstruction of biliary tree)Jaundice, palpable distended non-tender gallbladder
Coxsackie A, 2º syphilis, Rocky Mountain spotted feverRash on palms and soles
Diabetic ketoacidosis (Kussmaul respirations)Deep, labored breathing/hyperventilation
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)Chest pain, pericardial effusion/fricton rub, persistent fever following MI
EBVAtypical lymphocytes
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect is seen in the vascular subtype of ED)Elastic skin, hypermobility of joints, inc bleeding tendency
Emphysema (“pink puffer”, centriacinar [smoking] or panacinar [α1-antitrypsin deficiency])Pink complexion, dyspnea, hyperventilation
Epidural hematoma (middle meningeal artery rupture)Lucid interval after traumatic brain injury
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia) Tx: doxycylcineLarge rash with bulls-eye appearance
Facial Nerve PalsyLMN facial nerve (CN VII) palsy; UMN lesions spare the forehead: Unilateral facial drooping involving forehead
Familial hypercholesterolemia (decreased LDL receptor signaling)Achilles tendon xanthoma
Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)Short stature, café au lait spots, thumb/radial defects, ↑ incidence of tumors/leukemia, aplastic anemia
Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Gardner syndrome (subtype of FAP)Multiple colon polyps, osteoma/soft tissue tumors, impacted/supernumerary teeth
Gaucher disease (glucocerebrosidase deficiency)Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femoral head, bone crises
Genital lesion (Indurated, ulcerated)Nonpainful: chancre (primary syphilis, Treponema pallidum)

Painful with exudate: chancroid (Haemophilus ducreyi)
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIaMucosal bleeding and prolonged bleeding time
Goodpasture syndrome (glomerulonephritis and hemoptysis)Anti-glomerular basement membrane antibodies
Gout/podagra (hyperuricemia)Sudden swollen/painful big toe joint, tophi
Guillain-Barré syndrome (acute inflammatory demyelinating polyradiculopathy subtype)Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Hearing LossSensorineural hearing loss:
Normal Rinne Test (air > bone)
Weber Test localizes to unaffected ear

Conductive hearing loss:
Abnormal Rinne Test (bone > air)
Weber Test localizes to affected ear
Horner syndrome (sympathetic chain lesion)Ptosis, miosis, anhidrosis
Huntington disease (autosomal dominant CAG repeat expansion)Chorea, dementia, caudate degeneration
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)Recurrent cold (non-inflammed) abscesses, unusual eczema, high serum IgE
HypothyroidismCold intolerance
Idiopathic thrombocytopenic purpuraAntiplatelet antibodies
IgA deficiencyAnaphylaxis following blood transfusion
Increased AFP in amniotic fluid/maternal serumDating error, anenchephaly, spina bifida (neural tube defects)
Infective EndocarditisJaneway lesions (infective endocarditis, septic emboli/microabscesses): Painless erythematous lesions on palms and soles

Osler nodes (infective endocarditis, immune complex deposition): Painful, raised red lesions on pads of fingers/toes
Internuclear ophthalmoplegia (damage to MLF, may be unilateral or bilateral)Conjugate horizontal gaze palsy, horizontal diplopia
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Kaposi sarcoma, associated with HHV-8Dark purple skin/mouth nodules in a patient with AIDS
Kartagener syndrome (dynein arm defect affecting cilia)Situs Inversus, chronic sinusitis, bronchiectasis, infertility
Klebsiella pneumoniae pneumoniaRed “currant jelly” sputum in alcoholic or diabetic patients
Klüver-Bucy syndrome (bilateral amygdala lesion)Hyperphagia, hypersexuality, hyperorality, hyperdocility
Lead PoisoningBurton line (lead poisoning)Bluish line on gingiva
Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)Gout, intellectual disability, self-mutilating behavior in a boy
Lichen planusPruritic, purple, polygonal planar papules and plaques (6 P’s)
LymphomaB symptoms (staging) of lymphoma: Fever, night sweats, weight loss
Mallory-Weiss syndrome (alcoholic and bulimic patients)Vomiting blood following gastroesophageal lacerations
Marfan syndrome (fibrillin defect)Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints
McArdle disease (skeletal muscle gylcogen phosphorylase deficiency)Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McCune-Albright syndrome (Gs protein activating mutation)Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
MEN 1 (autosomal dominant)Pancreatic, pituitary, parathyroid tumors
MEN 2A (autosomal dominant RET mutation)Thyroid and parathyroid tumors, pheochromocytoma
MEN 2B (autosomal dominant RET mutation)Thyroid tumors, pheochromocytoma, ganglioneuromatosis
Meniere diseaseEpisodic vertigo, tinnitus, hearing loss
Mucor or Rhizopus fungal infectionBlack eschar on face of patient with diabetic ketoacidosis
Multiple sclerosisNystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
Muscular dystrophy (most commonly Duchenne due to X-linked recessive frameshift mutation of dystrophin gene)Calf pseudohypertrophy
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood)Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Myxedema (caused by hypothyroidism, Graves disease [pretibial])Cutaneous/dermal edema due to connective tissue deposition
Nephrotic syndromePeriorbital and/or peripheral edema, proteinuria (>3.5g/day), hypoalbuminemia, hypercholesterolemia
Neuro damageUMN damage: Hyperreflexia, hypertonia, Babinski sign present (Toe extension/fanning upon plantar scrape)

LMN damage: Hyporeflexia, hypotonia, atrophy, fasciculations
Neurofibromatosis type I (AD inheritance)Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type 2Bilateral acoustic schwannomas
Neurosyphilis (Argyll Robertson pupil)Pupil accommodates but doesn’t react
Osler-Weber-Rendu syndromeTelangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])Swollen, hard, painful finger joints
Osteogenesis imperfecta (type I collagen defect)Blue sclera
Paget disease of the breast (sign of underlying neoplasm)Red, itchy, swollen rash of nipple/areola
Paget disease of bone (increased osteoblastic and osteoclastic activity)Bone pain, bone enlargement, arthritis
Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta)Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Paroxysmal nocturnal hemoglobinuriaRed urine in the morning, fragile RBCs
Pasteurella multocida (cellulitis at inoculation site)Dog or cat bite resulting in infection
Pellagra (niacin B3 deficiency)Dermatitis, dementia, diarrhea
Pemphigus vulgaris (blistering)Anti-desmoglein (anti-desmosome) antibodies
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction, ^ cancer risk, mainly GI)Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peyronie disease (connective tissue disorder)Fibrous plaques in soft tissue of penis with abnormal curvature
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Pott disease (vertebral TB)Back pain, fever, night sweats
Raynaud phenomenon (vasospasm in extremities)Painful fingers/toes changing color from blue to white to red with cold or stress
Reactive arthritis associated with HLA-B27Urethritis, conjunctivitis, arthritis in a male
Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniére deformity)Anti-IgG antibodies
Sarcoidosis (noncaseating granulomas)Bilateral hilar adenopathy, uveitis
Scarlet fever“Strawberry tongue”
SclerodermaCREST: Anticentromere antibodies

Diffuse systemic scleroderma: Anti-topoisomerase antibodies
Scurvy (vit C deficiency; can’t hydroxylate proline/lysine for collagen synthesis)Swollen gums, mucosal bleeding, poor wound healing, petechiae
Sheehan syndrome (pituitary infarction)No lactation postpartum, absent menstruation, cold intolerance
Sjogren syndrome (autoimmune destruction or exocrine glands)Dry eyes, dry mouth, arthritis
Subarachnoid hemorrhage“Worst headache of my life”
SyphilisCondylomata lata (2º syphilis): Smooth, moist, painless, wart-like white lesions on genitals
Systemic lupus erythematosus
SLE (type III hypersensitivity)
“Butterfly” facial rash and Raynaud phenomenon in a young female

Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA)

Drug-induced SLE (eg, hydralazine, isoniazid, phenytoin, procainamide): Antihistone anitbodies
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion“Cherry-red spot” on macula
Unstable angina (- troponins) or NSTEMI (+ troponins)Chest pain with ST depression on EKG
Virchow node (abdominal metastasis)Enlarged, hard left supraclavicular node
Vitamin DeficiencyScurvy (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis): Swollen gums, mucosal bleeding, poor wound healing, petechiae
Von Hippel-Lindau disease (dominant tumor suppressor gene mutation)Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
Waterhouse-Friderichsen syndrome (meningococcemia)Adrenal hemorrhage, hypotension, DIC
Wet beriberi (thiamine vit B1 deficiency)Dilated cardiomyopathy, edema, alcoholism or malnutrition
Whipple disease (Tropheryma whipplei)Weight loss, diarrhea, arthritis, fever, adenopathy
Wilson disease (Kayser-Fleischer rings due to copper accumulation)Golden brown rings around peripheral cornea


Disease/Disorders High Yield Info
Becker muscular dystrophy (x-linked non-frameshift deletions in dystrophin, less severe than Duchenne)Slow, progressive muscle weakness in boys
Budd-Chiari syndrome (post-hepatic venous thrombosis)Abd pain, ascites, and hepatomegaly
Congenital toxoplasmosisChorioretinitis, hydrocephalus, intracranial calcifications
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)Infant with hypoglycemia, hepatomegaly
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)Severe jaundice in neonate
Down syndromeSingle palmar crease
Duchenne muscular dystrophy (growers sign)Child uses arms to stand up from the squat
Edwards syndrome (trisomy 18)Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury : “waiter’s tip”)Neonate with arm paralysis following difficult birth
Erythema infectiosum/ Fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)Child with fever later develops red rash on face that spreads to body
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidneys)Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria
Kawasaki disease (treat with IVIG and aspirin)Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

“Strawberry tongue”
MeaslesFever, cough, conjunctivitis, coryza, diffuse rash

Koplik spots (measles [rubeola] virus): Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Patau syndrome (trisomy 13)An infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
PDA (close with indomethacin; keep open with PGE analogs)Continuous “machine-like” heart murmur
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Sturge-Weber syndromeNevus flammeus (benign): Vascular birthmark (port-wine stain) of the face
Turner syndrome (45,XO)Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema