Classic presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium difficile infection
Achilles tendon xanthoma
Familial hypercholesterolemia ( decrease LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friedrichsen syndrome ( meningococcemia)
Anaphylaxis following blood transfusion
IgA deficiency
Anterior “drawer sign” +
anterior cruciate ligament injury
Arachnodactyly, lens dislocation (upward), aortic dissection, hyperflexible joints
Marfan syndrome ( fibrillin defect)
Athlete with polycythemia
secondary to erythropoietin injection
Back pain, fever, night sweats
Pott disease ( vertebral TB)
Bilateral acoustic schwannomas
Neurofibromatosis type 2
bilateral hilar adrenopathy, uveitis
Sarcoidosis ( noncaseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rhizopus fungal infection
Blue sclera
osteogenesis imperfecta ( type I collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone ( increase osteoblastic and osteoclastic activity)
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobby
aortic regurgitation
“butterfly” facial rash and Raynaud phenomenon in a young female
Systemic lupus erythematosus
Café-Au-Lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas
Neurofibromatosis type 1
Café-Au-Lait spots ( unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome ( mosaic G-protein signaling mutation)
Calf pseudohypertorphy
Muscular dystrophy ( Most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes
Kawasaki disease ( treat with IVIG and aspirin)
“cherry-red spots” on macula
Tay-Sachs ( ganglioside accumulation) or Niemann-Pick ( sphingomyelin accumulation, central retinal artery occlusion
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)
Chest pain with ST depression on EKG
unstable angina (negative troponins) or NSTEMI ( positive troponins)
Child uses arm to stand up from squat
Duchenne muscular dystrophy ( Gowers sign)
Child with fever later develops red rash on face that spread to body
Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19)
Chorea, dementia, caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease ( skeletal muscle glycogen phosphorylase deficiency)
cold intolerance
hypothyroidism
Conjugate horizontal gase palsy, horizontal diplopia
Intranuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral)
Continuous “machine-like” heart murmur
PDA (close with indomethacin; keep open with PGE analogs)
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypothyroidism, Graves disease [pretibial])
Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome ( right-sided cardiac valvular lesions, increase 5-HIAA)
Dark purple skin/ mouth nodules in a patient with AIDS
Kaposi sarcoma, associated with HHV-8
Deep, labored breathing/ hyperventilation
Diabetic ketoacidosis ( Kussmaul respiration)
Dermatitis, dementia, diarrhea
Pellagra ( niacin [vitamin B3] deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet berberi (thiamine [vitamin B1] deficiency)
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjogern 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, hyper mobility of joints, increase bleeding tendency
Ehlers-Danlos syndrome ( type V collagen defect, type III collagen defect seen in vascular subtype of ED)
Enlarged, hard left supraclavicular node
Virchow node ( abdominal metastasis)
Episodic vertigo, tinnitus, hearing loss
Meniere disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Mycosis fungoides ( cutaneous T-cell lymphoma) or Sezary syndrome ( mycosis fungicides + malignant T cells in blood)
Facial muscle spasm upon tapping
Chvostek sign ( hypocalcemia)
Fat, female, forty, and fertile
Cholelithiasis ( gallstones)
Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction ( rapid lysis of spirochetes results in endotoxin release )
fever, cough, conjunctivitis, coryza, diffuse rash
Measles
fever, night sweats, weight loss
B symptoms ( staging) of lymphoma
Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease ( connective tissue disorder)
Golden brown rings around peripheral cornea
wilson disease ( Kayser-Flesher rings due to copper accumulation)
Gout, intellectual disability, self mutilating behavior in boy
Lesch-Nyhan syndrome ( HGPRT deficiency, X-linked recessive)
Hamartomatous GI polyops, hyper pigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome ( inherited, benign polyposis can cause bowl obstruction; increase risk, mainly GI)
Hepatosplenomegaly, pancytopenia, osteoporosis, aspetic necrosis of femoral head, bone crisis
Gaucher disease ( glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport Syndrome ( mutation in collagen IV)
Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome ( bilateral amygdala lesion)
Hyperreflexia, hypertonia, babinski sign present
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
Chronic bronchitis ( hyperplasia of mucous cells, “blue bloater”)
Indurated, ulcerated genital lesion
Nonpainful: chancre ( primary syphilis, Treponema pallidum)
Painful, with exudate: chancroid ( homophiles ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome ( trisomy 13)
Infant with hypoglycemia, hepatomegaly
Cori disease ( deb ranching enzyme deficiency) or Von Gierke disease ( glucose-6-phosophate deficiency, more severe)
Infant with microcephaly, rocker-bottom feet, clenched hands, an structural heart defect
Edwards syndrome ( trisomy 18)
Jaundice, palpable distended non-tender gallbladder
Courvoisier sign ( distal malignant obstruction of biliary tree)
Large rash with bull’s eye appearance
Erythema chronic migraines from Ixodes tick bite ( Lyme disease: Borrelia)
Lucid interval after traumatic brain injury
Epidermal hematoma ( middle meningeal artery rupture)
Male child, recurrent infections, no mature B cells
Bruton disease ( X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthenia ( defect in platelet aggregation due to lack of GpIIb/IIIa)
Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome ( subtype FAP)
Myopathy ( infantile hypertrophic cardiomyopathy), exercise intolerance
Pope disease ( lysosomal alpha-1,4-glucosidase deficiency )
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 syndrome ( pituitary infarction)
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
multiple sclerosis
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease ( autoimmune hemolytic anemia caused by Mycoplasma pneumonia, infectious mononucleosis, CLL)
Painful fingers/toes changing color from blue to white to red with cold or stress
Raynaud phenomenon ( vasospasm in extremities)
Painful, raised red lesions on pads of fingers/toes
Osler nodes ( infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Laneway lesions ( infective endocarditis, septic emboli/microabscesses)
Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain ( child), hematuria
Henoch-Schonlein purpura ( IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumors
MEN1 ( autosomal dominant)
Periorbital and/or peripheral edema, proteinuria (greater than 3.5 g/day), hypoalbuminemia, hypercholesterolemia
nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
Emphysema ( “pink-puffer,” centriacinar [smoking] or panacinar [alpha1-antitrypsin deficiency])
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome ( multiple combined dysfunction of the proximal convoluted tubule)
Pruritic, purple, polygonal planar papules, and plaques ( 6 P’s)
Lichen planus
Ptosis, miosis, anhidrosis
Horner syndrome ( sympathetic chain lesion)
Pupil accommodates but does react
Neurosyphilis ( Argyll Robertson pupil)
Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome ( acute inflammatory demyelinating polyradiculopathy subtype)
Rash on palms and soles
Coxsackie A, Secondary syphilis, Rocky Mountain spotted fever
Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome ( Job syndrome: neutrophil chemotaxis abnormality)
Red “ current jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae pneumonia
Red “ current jelly” stools
Acute mesenteric ischemia ( adults), intussusception ( children)
Red, itchy, swollen rash of nipple/areola
Paget disease of breast ( sign of underlying neoplasm)
red urine the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma ( bilateral), hemangioblastoma, angiomatosis, pheochromocytoma
von-Hippel-Lindau disease ( dominant tumor suppressor gene mutation)
Resting tremor, rigidity, akinesia, postural instability, shuffling gait
Parkinson disease ( loss of dopaminergic neurons in substantia nigra pars compacta)
Retinal hemorhhages with pale centers
Roth spots ( bacterial endocarditis)
Severe jaundice in neonate
Crigler-Najjar syndrome ( congenital unconjugated hyperbilirubinemia)
Severe RLQ pain with palpation of LLQ
Roving sign ( acute appendicitis)
Severe RLQ pain with deep tenderness
McBurney sign ( acute appendicitis )
Short stature, cafe au last spots, thumb/radial defects, increase incidence of tumors/leukemia, aplastic anemia
Fanconi anemia ( genetic loss of DNA crosslink repair; often progresses to AML)
Single palmar crease
Down syndrome
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome ( dynein arm defect affecting cilia)
Skin hyper pigmentation, hypotension, fatigue
primary adrenocortical insufficiency ( eg, Addison disease) causes increase ACTH and increase alpha-MSH production)
Slow, progressive muscle weakness in boys
Becker muscular dystrophy ( X-linked missnese mutation in dystrophin; less severe than Duchenne)
Small, irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots ( measles [rubeola] virus)
Smooth, moist, painless, wart-like white lesions on genitals
Condylomata lata ( secondary syphilis)
Splinter hemorrhages in fingernailes
Bacterial endocarditis
“strawberry tongue”
Scarlet fever, Kawasaki disease
Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck,lymphedema
Turner syndrome ( 45,XO)
Sudden swollen/painful big toe joint, tophi
gout/podagra ( hyperuricemia)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy ( vitamin C deficiency: can’t hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteroarthritis ( osteophytes on PIB [Bourchard nodes], DIP [Heberden nodes])
Systolic ejection murmur ( crescendo-dcrescendo)
aortic stenosis
Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendu Syndrome
Thyroid and parathyroid tumors, pheocromocytoma
MEN2A ( autosomal dominant RET mutation)
Thyroid tumors, pheochromocytoma, and ganglioneuromatosis
MEN2B ( autosomal dominant RET mutation)
Toe extension/fanning upon plantar scrape
Babinski sign ( UMN lesion)
Unilateral facial drooping involving forehead
LMN facial nerve ( CN VII) palsy; UMN lesions spare the forehaed
Urethritis, conjunctivitis, arthritis in a male
reactive arthritis associated with HLA-B27
Vascular birthmark ( port-wine stain) of the face
Nevus flammeus ( benign, but associated with Sturge-weber syndrome)
Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome ( alcoholic and Bulimic patients)
Weight loss, diarrhea, arthritis, fever, adenopathy
Whipple disease ( Tropheryma while)
“worst headache of my life”
Subarachnoid hemorrhage
