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Hy - FA Rapid Review
Hy - FA Rapid Review - Classic Presentations
| Question | Answer |
|---|---|
| Abdominal pain, ascites, hepatomegaly | budd-chiari syndrome (post hepatic venous thromobosis) |
| Achilles tendon xanthoma | familial hypercholesterolemia |
| Adrenal hemorrhage, Hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Arachnodactlyly, lens dislocation, aortic dissextion, hyperflexible joints | Marfan’s Syndrome |
| Back pain, fever, night sweats, weight less | Pott’s disese (vertebral tuberculosis) |
| Big toe extension/fanning upon plantar scrape | babinski’s sign (UMN lesion) |
| Bilateral hilar adenopathy, uveitis | sarcoidosis (noncaseating granulomas) |
| Blue sclera | osteogeneisis imperfect (collagen defect) |
| Bluish line on gingival | burton’s line (lead poisoning) |
| Bone pain, bone enlargement, arthritis | paget’s disease of bone (↑ osteoblastic and clastic activity) |
| Café-au-lait spots, lisch nodules (iris hamartoma) | Neurofibromatosis type I (+bilateral acoustic neuromas |
| Calf pseudohypertrophy | muscular dystrophy (most commonly duchenne’s) |
| “cherry-red spot” on macula | tay-sachs (ganglioside accumulation) or Neimann-Pick (lysosomal storage disease) |
| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler’s syndrome (autoimmune-mediated post MI fibrinous pericarditis) |
| Child uses arms to stand up from squat | Gower’s sign (duchenne muscular dystrophy: x-linked recessive deleted dystrophin gne) |
| Child with fever develops red rash on face that spreads to body | “slapped cheeks” (erythema infectiosum/fifth desase: parvovirus B19) |
| Chorea, dementia, caudate degeneration | huntington’s disease (autosomal-dominant CAG repeat expansion) |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps | McArdle’s disease (muscle phosphorylase deficiency) |
| Cold intolerance | hypothyroidism |
| Conjugate lateral gaze palsy, horizontal diplopia | internuclear ophthalmoplegia (damage to MLF |
| Continuous “machinery” heart murmur | PDA (close with indomethacin |
| Cutaneous/dermal edema due to connective tissue deposition | myxedema (hypothyroidism, Grave’s Disease) |
| 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 |
| 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-Danols syndrome 9collagen 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, forty, and fertile | acute cholecystitis |
| Fever, chills, headache, myalgia following antibiotic treatment for syphallis | 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 (lymphomas) |
| Fibrous plaques in soft tissue of the penis | peyronie’s disease (CT disorder) |
| Gout, mental retardation, self-mutilation in a boy | Lexch-Nyhan syndrome (HGPRT deficiency) |
| Green-yellow rings around peripheral cornea | Kayer-Fleischer rings (copper accumulation from Wilson’s disease) |
| Hamartomatous Gi polyps, hyperpigmentation of mouth/feet/hands | Peutz-Jeghers Syndrome (genetic benign polyposis can cuase bowel obstruction, ↑cancer risk) |
| Hepatosplenomegaly, osteoporosis, neurologic symptoms | gaucher’s disease (glucocerebrosidase deficiency) |
| Heredity nephritis, sensorineural hearing loss, cataracts | Alports syndrome (collagen mutation) |
| Hypercoagulability (leading to migrating DVTs and vasculitis) | trousseau’s sign (adenocarcinoma of pancreas or lungs) |
| Hypertension, hypokalemia, metabolic alkalosis | Conn’s Syndrome (primary hyperaldosteronism); actually says metabolic acidosis in book but is a misprint. Verified from textbook as well as Qbank. |
| Hypoxemia, polycythemia, hypercapnia | “blue boater” (chronic bronchitis: hyperplasia of mucous cells) |
| Indurated, ulcerated genital lesions (nonpainful) | chancre (primary syphilis) |
| Infant with failure to thrive, hepatosplenomegaly, neurodgeneration | Neimann-Pick disease (genetic sphingomyelinase deficiency) |
| Infant with hypoglycemia, failure to thrive, and hepatomegaly | Cori’s disease 9debranching enzyme deficiency) |
| Infant with microcephaly, rocker-bottom feet, and structural heart defect | Edwards syndrome (trisomy 18) |
| Jaundice, RUQ pain, fever | Charcot’s triad 2 (ascending cholangitis) |
| Keratin pearls on a skin lesion | squamous cell carcinoma |
| Large rash with bull’s eye appearance | erythema chronicum migrans from tick bite (lyme disease: Borrelia) |
| Lucid interval after traumatic brain injury | epidural hematoma |
| 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 (genetic disorder, predisposes to colon cancer) |
| Necrotizing vasculitis (lungs) and necrotizing glomerulonephritis | Wegener’s and goodpasture’s syndromes (hemoptysis and glomerular disease) |
| Neonate with arm paralysis following difficult birth | erb-duchenne palsy (superior trunk [C5-6] brachial plexus injury: “water’s tip”) |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan’s syndrome (pituitary infarction) |
| Nystagmus, intention tremor, scanning speech | Charcot’s triad 1 (MS) |
| 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 Mycoplasma pneumonia, infectious mononucleosis) |
| Painless jaundice | cancer of the pancreatic head obstructing bile duct |
| Palpable purpura, joint pain, abdominal pain (child) | Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys) |
| Pancreatic, pituitary, parathyroid tumors | Wermer’s syndrome (MEN 1) |
| Pink complexion, dyspnea, hyperventilation | “pink puffer” (emphysema: centroacinar [smoking], panacinar [α1-antitrypsin deficiency]) |
| Polystotic fibrous dysplasia, precocious puberty, café-au-lait spots, short stature in a young girl | McCune-Albright syndrome (mosaic G-protein signaling mutation) |
| Polyuria, acidosis, growth failure, electrolyte imbalances | fandoni’s syndrome (proximal tubular reabsorption defect) |
| Positive Anterior “drawer sign” | ACL injury |
| 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 GI/upper respiratory infection) | Guillain-Barre Syndrome (autoimmune acute inflammatory demyelinating polyneuropathy) |
| Rash on palms and soles | 2® Syphillis, rocky Mountain spotted fever |
| Recurrent colds, unusual eczema, high serum IgE | Job’s syndrome (hyper IgE syndrome: neurophil chemotaxis abnormality) |
| Red “currant jelly” sputum | Klebsiella pneumonia |
| Red, itchy, swollen rash of nipple/areola | Paget’s disease of the breast (represents underlying neoplasm) |
| Red urine in the morning | paroxysmal nocturnal hemoglobinuria |
| Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma | von Hippel-Lindau disease (dominant tumor suppressor gene mutation) |
| Resting tremor, rigidity, akinesia, postural instability | Parkinson’s disease (nigrostriatal dopamine depletion) |
| Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance | Pompe’s disease (lysosomal glucosidase deficiency) |
| Retinal hemorrhages with pale centers | Roth’s spots (bacterial endocarditis) |
| Severe jaundice ni neonate | Crigler-najjar syndrome (congenital unconjugated hyperbilirubinemia) |
| Severe RLQ pain with rebound tenderness | McBurney’s sign (appendicitis) |
| Short stature, ↑ incidence of tumors/leukemia, aplastic anemia | Fanconi’s anemia 9genetically inherited |
| Single palm crease | simian crease (Down syndrome) |
| Situs inversus, chronic sinusitis, bronchiectasis | Kartagener’s syndrome (dynein defect affecting cilia) |
| Skin hyperpigmentation | Addison’s Disease (1° adrenocortical insufficiency of autoimmune or infectious etiology) |
| Slow, progressive muscle weakness in boys | Becker’s muscular dystrophy 9X-linked, defective dystrophin |
| Small irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik spots (measles) |
| Small, nontender, erythematous lesions on palms/soles | janeway lesions (infective endocarditits) |
| Smooth, flat, moist white lesions on gentials | 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 | Turner’s syndrome (XO, short stature, webbed neck, lymphedema) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
| Swollen gums, mucous bleeding, poor wound healing, spots on skin | scury (vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis) |
| Swollen hard, painful finger joints | osteoarthritis (osteophytes on PIP [Bouchard’s nodes], DIP [herberden’s Nodes]) |
| Systolic ejection murmur (crescendo-decrescendo) | aoritic valve stenosis |
| Thyroid, parathyroid, adrenal tumors | Sipple’s Syndrome (Men2A) |
| Ulcerated genital lesions with exudates (painful) | Chancroid (Haemophilus ducreyi) |
| Unilateral facial drooping | Bell’s palsy (LMN CN VII Palsy) |
| Urethritis, conjunctivitis, arthritis in a male | Reiter’s syndrome (reactive arthritis associated with HLA-B27) |
| Vascular birthmark (port-wine stain) | Hemangioma (benign, but associated with Sturge-Weber Syndrome) |
| Vasculitis from exposure to endotoxin causing glomerular thrombosis | Scwartzman reaction |
| Vomiting blood following esophagogastric lacerations | Mallory-Weiss syndrome (alcoholics and eating disorders) |
| “Waxy” casts with very low urine flow | chronic end-stage renal disease |
| WBC casts in urine | acute pyelonephritis or cystitis |
| Weight loss, diarrhea, arthritis, fever, adenopathy | Whipple’s disease (Tropheryma whippelii) |
| “worst headache of my life” | berry aneurysm (associated with APKD) |
Created by:
HY90X
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