Classic presentations Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome (post-hepatic venous thrombosis)
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrllin)
Athlete with polycythemia
2/2 EPO injection
Back pain, fever, night sweats, weight loss
Pott’s disease 2/2 vertebral TB
Bilateral hilar LAD & uveitis
Sarcoidosis (non-caseating granuloma)
Blue sclera
OI (type 1 collagen defect)
Bluish line on gingiva
Burton’s line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget’s disease (increased blastic and clastic activity)
Bounding pulses, diastolic murmur, head bobbing
AR
Butterfly facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe-au-lait spots, Lisch nodules (iris hamartoma)
NF-1 (plus pheochromocytoma, optic glioma)
Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Calf pseudohypertropy
Muscular dystrophy (Duchenne)
Cherry-red spot macula
Tay Sachs (ganglioside)
Niemann-Pick (sphingomyelin)
Central retinal artery occlusion
Chest pain on exertion
Angina (stable: moderate; unstable: mild)
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (AI-mediated post MI fibrinous pericarditis): 1-12 weeks following AMI
Child uses arms to stand up from squat
Gower’s sign: DMD
Child with fever later develops rash on face that spreads to body
Parvovirus B19/Erythema infeciosum/Fifth disease “slapped cheek”
Chorea, dementia, caudate degeneration
Huntington’s disease (AD CAG-repeat)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s disease (muscle glycogen phosphorylase deficiency)
Cold intolerance/sensitivity
Hypothyroidism
Conjugate lateral gaze palsy; horizontal diplopia
Internuclear opthalmoplegia (damage to MLF)
Bilateral: MS
Unilateral: stroke
Continuous machinery heart murmur
PDA (close with indomethacin; open with misoprostol)
Cutaneous edema 2/2 CT deposition
Myxedema (hypothyroidism, Grave’s – pre-tibial)
Dark purple skin/mouth nodules
Kaposi’s sarcoma (HHV-8)
Deep, labored breathing/hyperventilation
Kussmaul breathing (DKA)
Dermatitis, dementia, diarrhea
Pellagra (B3 deficiency)
Dilated CM, edema, alcoholism/malnutrition
Wet beriberi (B1 deficiency)
Dog/cat bite resulting in infection
Pasturella multocida (cellulitis at site of innoculation)
Dry eyes, mouth, arthritis
Sjogren’s (AI exocrine glands)
Dysphagia, glossitis, Fe-deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal SCC)
Elastic skin, hypermobility of joints
EDS (type 3 collagen)
Enlarged, hard left supraclavicular LN
Vircow’s node (abdominal mets)
Erythroderma, LAD, HSM, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chovstek’s sign (hypocalcemia)
Fat, female, forty, fertile
Cholelithiasis (gall stones)
Fever, chills, headache, myalgia 2/2 ABX treatment for syphillis
Jarisch-Herxheimer reaction: rapid lysis of spirochetes; toxin release
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Fever, night sweats, weight loss
B symptoms (lymphoma)
Fibrous plaques in soft tissue of penis
Peyronie’s disease (CT disorder)
Gout, mental retardation, self-mutaliting behavior in boy
Lesch.Nyan syndrome (HGPRT XLR)
Green-yellow rings around peripheral cornea
KF rings (Wilson’s disease - Cu)
Hamartomatous GI polyps, hyperpigmentation of mouth, hands, feet
Peutz-Jegher’s syndrome (inherited, benign polyposis can cause bowel obstruction; higher cancer risk, mainly GI)
HSM, osteoporosis, neurological symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (can’t see, can’t pee, can’t climb a tree: alpha-chain of collagen 4)
Hyperphagia, hypersexuality, hyperorality loss, cataracts
Kluver-Bucy sydrome (bilataral amygdala lesion)
Hyperreflexia, hypertonia, Babinski sign
UMN lesion
Hyporeflexia, hypotonia, atrophy, fasiculations
LMN lesion
Hypoxemia, polycythemia, hypercapnia
Blue bloater: chronic bronchitis
Indurated, ulcerated genital lesion
Painful: H. ducreyi (chancroid)
Painless: Syphillis (T. pallidum)
Infant with cleft lip/palate; microcephaly/holoprosencephaly, polydactyly, cutis aplasia
Patau’s syndrome (Trisomy 13)
Carcinogen: Aflatoxin (Aspergillus)
Liver: HCC
Carcinogen: Alkylating agents
Blood: Leukemia/Lymphoma
Carcinogen: Aromatic amines (benzidine, 2-naphthylamine)
Bladder: TCC
Carcinogen: Arsenic
Liver: Angiosarcoma
Lung: Ca
Skin: SCC
Carcinogen: Asbestos
Lung: bronchogenic > mesothelioma
Carcinogen: Carbon tetrachloride
Liver: centrilobular necrosis, fatty change
Carcinogen: Cigarette smoke
Bladder (TCC)/Esophagus (SCC) /Kidney (RCC)/Larynx, Lung (SCC) /Pancreas (AC)
Carcinogen: Ethanol
Liver: HCC
Carcinogen: Ionizing radiation
Thyroid: Papillary thyroid cancer
Carcinogen: Nitrosamines (smoked foods)
Stomach cancer
Carcinogen: Radon
Lung cancer (second leading cause to lung cancer)
Carcinogen: Vinyl chloride
Liver: Angiosarcoma
Carcinogens associated with hepatic angiosarcoma
- Vinyl chloride
2. Arsenic
Infant with FTT, HSM and neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Infant with hypoglycemia, FTT and HSM
Cori’s disease (debranching enzyme)
Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edward’s syndrome (trisomy 18)
Jaundice, palpable distended non-tender gall bladder
Courvoisier’s sign (distal obstruction of biliary tree)
Large rash with bull’s eye appearance
Erythema migrans (Ixodes tick/Lyme disease)
Lucid interval after traumatic brain injury
Epidural hematoma
Male child, recurrent infections, no mature B cells
Bruton’s X-linked agammaglobulinemia
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (Gp2b/3a platelet aggregation)
Muffled heart sounds, distended neck veins, hypotension
Beck’s triad of cardiac tamponade
Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner’s syndrome (subtype of FAP)
Infantile hypertrophic cardiomyopathy; exercise intolerance
Pmpe’s disease (lysosomal alpha-1,4, glucosidase deficiency)
Neonate w/ arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk, C5-6 brachial plexus injury – waiter’s tip)
No lactation post-partum, absent menstruation, cold intolerance
Sheehan’s pituitary infarction
Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
MS
Oscillating slow/fast breathing
Cheyne-Stokes (central apnea in CHF or raiced ICP)
Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (AIHA 2/2 M. pna or Mono)
Painful, pale, cold fingers/toes
Raynaud’s phenomenon (vasospasm in extremities)
Painful, raised red lesions on pads of fingers, toes
Osler’s node (immune complex)
Painless erythematous rash on palms and soles
Janeway lesions (infective endocarditis, septic emboli, microabscess)
Painless jaundice
Pancreatic ca obstructing bile duct
Palpable purpura on buttocks, joint pain, abdominal pain, hematuria
HSP (IgA vasculitis)
Pink puffer with dyspnea and hyperventilation
Emphysema: centriacinar (smoking)
Panacinar (A1AT)
Polyuria, RTA type 2, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi’s syndrome (proximal tubular reabsorption defect)
Positive anterior drawer sign
ACL injury
Pruritic, purple, polygonal planar papules and plaques
Lichen planus