Classic Presentations Flashcards
Abdominal pain, diarrhea, leukocytosis, recent antibiotic use
Clostridium dificile infection
Achilles tendon xanthoma
Familial hypercholesterolemia
decreased LDL receptor signaling
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcus)
Anaphylaxis following a blood transfusion
IgA deficiency
Anterior drawer sign (+)
ACL injury
Athlete w/ polycythemia
Secondary to EPO injxn
Back pain, fever, night sweats
Pott disease
vertebral TB
Bilateral acoustic schwannoma
NFT type II
Bilateral hilar lymphadenopathy, uveitis
Sarcoidosis
Black eschar on the face of a patient w/ diabetic ketoacidosis
Mucor or Rhizopus infxn
Blue sclera
Osteogenesis imperfecta
Type I collagen defect
Bluish line on the gingiva
Burton line
Lead poisoning
Bone pain, bone enlargement, arthritis
Paget disease of the bone
Increased osteoblastic and osteoclastic activity
Bounding pulses, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash and Raynaud phenomenon in a young female
SLE
Rash
Arthritis
Serositis
Hematologic disorders
Oral ulcers
Raynaud’s Phenomenom/ Renal disease
Photosensitivity
Antinuclear abs
Immunosuppressants
Neurologic disorders (seizures, psychosis)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome
mosaic G-protein signaling mutation
Cafe-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytommas, optic gliomas
NFT Type I
Cervical Lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae, red tongue
Kawasaki disease
(Tx. w/ IVIG and aspirin)
CRASH and burn
Calf pseudohypertrophy
Muscular dystrophy
most commonly Duchenne, due to X-linked recessive mutation of dystrophin gene
“Cherry-red” spots on the macula
Tay-Sachs Disease
(ganglioside accumulation)
Nieman-Pick’s Disease
(sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion
Angina (stable)
Chest pain, pericardial effusion/friction rub, persistent fever following an MI
Dressler Syndrome (AI-mediated post-MI fibrinous pericarditis, 2-12 weeks after episode)
Chest pain w/ ST depressions on EKG
Unstable angina
Child uses arms to stand up from squat
Gower’s Sign
Duchenne’s muscular dystrophy
Child w/ fever later develops red rash on face that spreads to body
“Slapped cheeks”
(erythema infectiosum/fifth disease; parvovirus B19
Chorea, dementia, caudate degeneration
Huntington’s Disease
AD CAG repeat expansion
Chorioretinitis, hydrocephalus, intracranial calcifications
in newborn
Congenital toxoplasmosis
Chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s Disease
(Skeletal muscle glycogen phosphorylase deficiency)
(Type V glycogen storage disease)
Cold intolerance
Hypothyroidism
Conjugate horizontal gaze palsy
Internuclear ophthalmoplegia
damage to MLF; may be unilateral or bilateral
Continuous “machine-like” heart murmur
PDA
Close w/ indomethacin; open or maintain w/ PGE
Cutaneous/dermal edema due to connective tissue deposition
Myxedema
(Caused by hypothyroidism, Grave’s Disease)
-Commonly pretibial
Cutaneous flushing, diarrhea, bronchospasms
Carcinoid syndromem
Right sided cardiac valvular lesions, increased 5-HIAA
Dark purple skin/mouth nodules in a patient w/ AIDS
Kaposi’s Sarcoma
HHV-8
Deep, labored breathing/hyperventilation
Kussmaul respirations
Diabetic Ketoacidosis
Dermatitis, dementia, diarrhea
Pellagra
Niacin deficiency
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi
Thiamine deficiency
Dog or cat bite resulting in infxn
Pasteurella multocida
cellulitis at infxn site
Dry eyes, dry mouth, arthritis
Sjogren syndrome
AI destruction of salivary glands
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson Syndrome
May progress to esophageal SCC
Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome
Type V collagen defect; type III collagen defect seen in vascular subtype of EDS
Enlarged, hard left supraclavicular node
Virchow node
Abdominal metastasis
Episodic vertigo, tinnitus, hearing loss
Meniere Disease
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
Mycosis fungiodes
(cutaneous T-cell lymphoma)
Sezary Syndrome
(mycosis fungiodes+malignant T-cells in blood)
Facial muscle spasm on tapping
Chvostek sign
hypocalcemia
Fat, female, forty, fertile
Cholelithiasis
Fever, chills, headache, myalgia following antibiotic tx. for syphilis
Jaisch-Herxheimer reaction
Rapid lysis of spirochetes resulting in endotoxin release
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B-sx. of lymphoma (likely Hodgkin’s)
Fibrous plaques in soft tissue of penis w/ abnormal curvature
Peyronie disease
Connective tissue disorder
Golden brown rings around peripheral cornea
Kayser-Fleischer rings)
Cu2+ accumulation in Wilson’s disease
Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan Syndrome
HGPRT deficience, X-linked recessive
Hamartomous GI polpys, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome
inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI but others too
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
Gaucher’s Disease
glucocerbrosidase deficiency
Abdominal pain, ascites, hepatomegaly
Budd-chiari syndrome
posthepatic venous thrombosis
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome
Defective type IV collagen
Hyperphagia, hypersexuality, herporality, hyperdocity
Kluver-Bucy Syndrome
Bilateral amygdala lesion
Hyperreflexia, hypertonia, Babinski
UMN damage
Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Hypoxemia, polycythemia, hypercapnia
Blue bloater
Chronic bronchitis; hyperplasia of mucous cells
Indurated, ulcerated genital lesion
Nonpainful: chancre (Primary syphilis)
Painful: Chancroid (Haemophils ducreyi)
Infant w/ cherry-red spot on macula, hepatosplenomegaly, neurodegeneration
Niemann-Pick Disease
Sphingomyelinase deficiency
Infant w/ cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome
Infant w/ hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency)
Von Gierke disease (glucose-6-phosphatase deficiency; more severe)
Infant w/ rocker-bottom feet, microcephaly, clenched hands, structural heart defect
Edwards syndrome
Jaundice, palpable distended non-tender gallbladder
Distal obstruction of biliary tree
Large rash w/ bulls-eye appearance
Erythema migrans (Lyme disease from Ixodes TICK bite)
Lucid interval after traumatic brain injury
Epidural hematoma
Middle meningeal artery rupture
Male child, recurrent infxns, no mature B-cells
Bruton’s Disease (X-linked agammaglobulinemia)
Mucosal bleeding and prolonged bleeding timme
Glanzmann thrombasthenia
defect in platelet aggregation due to lack of GPIIb/IIIa
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad
Indicates cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner Syndrome
Subtype of FAP
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe Disease (lysosomal a1,4-glucosidase deficiency)
Neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk injury from C5-C6)
Results in waiter’s tip
No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome
Pituitary infarct
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease
Mycoplasma pneumonia= anti-I
Mono= anti-i
Painful fingers/toes changing color from white to blue to red with cold or stress
Raynaud’s phenomenon
Vasospasm
Painful, raised red lesions on pads of fingers/toes
Osler nodes
Indicates infective endocarditis
Painless erythematous lesions on palms and soles
Janeway lesions
Indicates infective endocarditis, septic emboli
Painless jaundice
Cancer of the pancreatic head obstructing the bile duct
Palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
Henoch-Schonlein purura
IgA vasculitis affecting skin and kidneys
Pancreatic, pituitary, parathyroid tumors
MEN 1 (AD)
Periorbital and peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Pink complexion, dyspnea, hyperventilation
Pink puffer
Emphysema
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic Rickett’s
Fanconi syndrome
Multiple combined dysfnxn of the PCT
Pruritic, purple, planar, polygonal papules and plaques
Lichen planus
Assoc. w/ HCV
Ptosis, miosis, anhydrosis
Horner Syndrome
Sympathetic chain lesion
Pupil accommodates but doesn’t react
Argyll-Robertson pupil
Neurosyphilis; “Prostitute’s pupil”
Rapidly progressive limb weakness that ascends following GI/URI
Guillain-Barre syndrome
Acute inflammatory demyelinating polyradiculopathy subtype
Rash on palms and soles
Coxsackie A, secondary syphilis, Rocky Mountain Spotted Fever
Recurrent cold abscesses, unusual eczema, high serum IgE
Hyper IgE syndrome
Neutrophil chemotaxis abnormality
Red “currant jelly” sputum in alcoholic or diabetic pts.
Klebsiella pneumoniae pneumonia
Red “currant jelly” stools
Acute mesenteric ischemia (adults)
Intussusception (children)
Red, itchy, swollen rash of nipple/areola
Paget’s disease of the breast
Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral), hemangioblastomas, angiomatosis, pheochromocytoma
von-Hippel Lindau disease
Dominant TSG mutation
Resting tremor, akinesia, rigidity, postural instability, shuffling gait
Parkinson disease
Loss of dopaminergic neurons in the SN pars compacta
Retinal hemorrhages w/ pale centers
Roth spots
Indicates bacterial endocarditis
Severe jaundice in neonate
Cirgler-Najjar syndrome
Congenital unconjugated hyperbilirubinemia
Severe RLQ pain / palpation of LLQ
Rovsing sign
Acute appendicitis indicator
Severe RLQ pain w/ rebound tenderness
McBurney sign
Acute appendicitis indicator
Short stature, cafe-au-lait spots, thumb/radial defects, increased 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 hyperpigmentation, hypotension, fatigue
Addison’s disease
Increased ACTH and a-MSH production; due to adrenocortical insufficiency
Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne’s)
Small, irregular red spots on buccal/lingual mucosa w/ blue-white centers
Koplik spots
Measles (rubeola)
Smooth, moist, painless, wart-like lesions on the genitals
Condylomata lata
Secondary syphilis
Splinter hemorrhages in fingernails
Bacterial endocarditis
“Strawberry tongue”
Scarlet Fever
or
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
Gout
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy
Vitamin C deficiency (cant hydroxylate proline/lysine for collagen synthesis)
Swollen, hard, painful finger joints
Osteoarthritis
Osteophytes on PIP, DIP
Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Telangectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Osler-Weber-Rendau syndrome
Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A
AD RET mutation
Thyroid tumors, pheochromocytoma, ganglioneuromatosis, marfoid habitus
MEN 2B
AD RET mutation