Classic Presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome
(Meningococcemia → Adrenal hemorrhage)
(Adrenal Crisis = Shock + Hyponatremia, Hyperkalemia, & Hypoglycemia)
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 (AD, Type 1 Collagen defect) (other Px = multiple fractures & hearing loss)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease of bone (increased osteoblastic and osteoclastic activity)
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
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 (+ pheochromocytoma, optic gliomas), Neurofibromatosis type II (+ bilateral acoustic 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 phosphorylase 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 –Reticulin– 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 choleslithiasis (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-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-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increased cancer risk)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
XLR, mutation in α-chain of collagen IV
Hypercoagulability (leading to migrating DVTs and vasculitis)
Trousseau’s sign (adenocarcinoma of pancreas or lung)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion)
Hyperreflexia, hypertonia, positive Babinski sign
Upper motor neuron (UMN) damage
Hypertension, hypokalemia, metabolic alkalosis
Conn’s syndrome
aldosterone-producing adenoma
Hyporeflexia, hypotonia, atrophy
Lower motor neuron (LMN) damage
Hypoxemia, polycythemia, hypercapnia
Blue bloater (chronic bronchitis: hyperplasia of mucous cells)
Indurated, ulcerated genital lesion
Nonpainful: chancre (primary syphilis, Treponema pallidum), Painful, with exudate: chancroid (Haemophilus ducreyi)
Infant with failure to thrive, hepatosplenomegaly, neurodegeneration
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 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 alpha-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 increased 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 nodes (infective endocarditis)
Painless, erythematous lesions on palms and soles
Janeway lesions (infective endocarditis)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct – so likely ↑conjugated bilirubin
(HCC doesn’t typically cause jaundice)
Palpable purpura on buttocks/legs, joint pain, abdominal pain (child)
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN I (autosomal dominant)
Pink complexion, dyspnea, hyperventilation
Pink puffer (emphysema: centroacinar [smoking], panacinar [alpha 1-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 progressive leg weakness that ascends (following GI/upper respiratory infection)
Guillain-Barre syndrome (autoimmune acute inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, Secondary 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, itchy, swollen rash of nipple/areola
Paget’s disease of the breast (represents underlying neoplasm)
Red urin 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 (congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with rebound tenderness
McBurney’s sign (appendicitis)
Short stature, increased 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 sinusitis, bronchiectasis, infertility
Kartagener’s syndrome (dynein arm defect affecting cilia)
Skin hyperpigmentation
Addison’s disease (primary adrenocortical insufficiency causes increased ACTH and alpha-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 blue-white centers
Koplik spots (measles; rubeola paramyxovirus)
Smooth, flat, moist white lesions on genitals
Condylomata lata (secondary 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 (45 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
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, pheochromocytoma
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 esophagogastric 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 pyelonephritis
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple’s disease (Tropheryma whippelii)
Worst headache of my life
Subarachnoid hemorrhage
Lower back pain w/ morning stiffness in a young man
morning stiffness improves w/ activity throughout the day
Ankylosing Spondylitis (HLA B27 serotype)
Paternal Allele is not expressed
Prader-Willi syndrome
Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia
Maternal Allele is not expressed
Angelman Syndrome
Mental retardation, seizures, ataxia, inappropriate laughter
Nutmeg Liver
Cor Pulmonale (right-sided heart failure) or Budd Chiari Syndrome
(due to post-hepatic backup of blood)
Hematemesis, Esophageal Varices, & NORMAL liver biopsy
Portal Vein Thrombosis
FYI: would also probably be Splenomegaly
2:1 ALT:AST ratio
Alcoholic liver disease
↑anti-mitochondrial antibody (AMA)
Primary Biliary Cirrhosis
Scleral icterus w/ mildly inc’d unconjugated bilirubin in 25-yr old patient following particularly stressful event
Gilbert Syndrome
dec’d UDP Glucuronyltransferase
(Patient asymptomatic, stressed, or fasting)
Black Liver
Dubin-Johnson
(AR, impaired conjugated bilirubin secretion due to defective MRP-2 cannalicular protein)
(Color = Polymers of epinephrine metabolites)
Tired, itchy woman w/ elevated Alkaline Phosphatase & AMA
Primary Biliary Cirrhosis
may also have xanthelasma from inability to excrete cholesterol – look like little yellow nodules around eyes
“Beading” appearance on Cholangiogram
Primary Sclerosing Cholangitis
(obliterative fibrosis of intra- & extra-hepatic ducts – histology shows “onion-skin” appearance)
(also ass’d w/ Ulcerative Colitis)
Fatigue, high alkaline phosphatase, & concurrent diagnosis of Ulcerative Colitis
Primary Sclerosing Cholangitis
Chronic diarrhea, failure to thrive & recurrent respiratory infections w/ Pseudomonas aeruginosa
Cystic Fibrosis (usually young Caucasian boy)
(Steatorrhea & failure to thrive due to malabsorption secondary to pancreatic insufficiency, which can be corrected by pancreatic enzyme supplementation)
“Spike & Dome” appearance w/ subepithelial deposits on EM
Membranous nephropathy
Nephrotic syndrome, SLE’s nephrotic presentation
“Tram Track” appearance on light microscopy
Membranoproliferative Glomerulonephritis (Type 1) (Nephrotic or Nephritic)
- “Tram track” appearance due to GBM splitting caused by mesangial ingrowth
LM shows mesangial expansion, GBM thickening, & eosinophilic nodular glomerulosclerosis (Kimmelstiel-Wilson lesion)
Diabetic Glomerulonephropathy
Most common cause of death in SLE
Diffuse Proliferative Glomerulonephritis
Rapidly Progressive Glomerulonephritis w/ p-ANCA staining
Microscopic polyangiitis or Churg-Strauss
(Mic Poly = Necrotizing vasculitis, involves lungs/kidneys
Churg-Strauss = Granulomatous vasculitis w/ Eosinophilia, involves lungs/heart, Asthma)
Child (1-3yrs) w/ gingivostomatitis, fever, & lymphadenopathy, also found to have intranuclear inclusions in cells from oral scrapings
Primary HSV-1 infection
Diabetes, Necrolytic Migratory Erythema, & Anemia
Glucagonoma
the rash is typically elevated & present in the groin/lower extremities
Immigrant child w/ rash that starts on the face & spreads to the rest of the body w/ post auricular and/or occipital lymphadenopathy
Rubella (togavirus)
(Rubeola – paramyxovirus – also causes this type of rash but will also darken or coalesce & does NOT cause post auricular/occipital lymphadenopathy)
Infant or child w/ erythematous skin that easily comes off w/ gentle pressure
Staphylococcus Scalded Skin Syndrome (SSSS)
produces exfoliatin exotoxin
(not fatal unless skin lesions become infected)
Tan-brown round, flat, greasy, coin-like lesion w/ a “stuck on” appearance like it could be easily scratched off.
Seborrheic Keratosis
Temporal Lobe tumor with BRAF mutation
Melanoma
BRAF V600E mutation present in 40-60% of melanomas
Late separation of umbilical cord, recurrent indolent skin infections & gingivitis, poor wound healing
Leukocyte adhesion deficiency
AR – lack of CD18 antigen necessary for Integrin synthesis
(indolent refers to NON pus-forming)
Primary amenorrhea, absent secondary sex characteristics, & olfactory sensory defect
Kallman Syndrome
diminished synth of gonadotropic hormones by anterior pituitary
Infantile Cataracts & “Frowning Baby” (lack of development of Social Smile)
Galactokinase Deficiency
AR
Hexagonal or benzene crystals in the urine
Cystinuria
defect in cystine transporters of renal tubules
