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Hy - FA Rapid Review

Hy - FA Rapid Review - Classic Presentations

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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