Classic presentations Flashcards
Achilles’ tendon xanthoma
Familial hypercholesterolemia (decr LDL receptor signalling)
Abdo pain, ascites, hepatomegaly
Budd-Chiari syndrome (posthepatic venous thrombosis)
Adrenal haemorrhage, hypoTN, DIC
Waterhouse-friderichsen syndrome (meningococcemia
Arachnodactaly, lens dislocation, aortic dissection, hyperflexible joints
Marfan’s syndrome (fibrillin defect)
Athlete with polycythemia
Secondary to EPO injection
Back pain, fever, night sweats, weight loss
Potts disease - vertebral granulomas
bilateral hilar adenopathy, uveitis
Sarcoidosis (noncaseating granulomas)
Blue sclera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton’s line - lead poisoning
Bone pain, bone enlargement, arthritis
Paget’s disease of the bone (incr osteoblastic and osteoclastic activity)
bounding pulses, diastolic heart murmur, head bobbing
aortic regurgitation
Butterfly facial rash and Raynaud’s phenomenon in a young female
SLE
Cafe-aulait spots, lisch nodules
Lisch nodules (iris hamartoma) neurofibromatosis - type 1 (+phaeochromocytoma, optic gliomas)
Cafe-au-lait spots, polyostotic fibrous dysplasias, precocious puberty, multiple endocrine abnormalities
Mccune Albright syndrome (mosaic G-protein signalling mutation)
Calf pseudohypertrophy
Muscular dystrophy (most commonly duchennes) X-linked recessive deletion of dystrophin gene
Cherry-red pot 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
Chest pain, pericardial effusion/friction rub, persistent fever following MI
Dressler’s syndrome (AI mediated post-MI fibrinous pericarditis. 1-12 weeks after ACS)
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 opthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])
Continuous machinery heart murmur
PDA (close with indomethacin)
open or maintain with misoprostol
Cutaneous/dermal edema due to connective tissue deposition
Myxedema (caused by hypotyroidism, Graves’ disease (pretibial)
Dark purple skin, mouth nodules
Kaposi’s sarcoma (usually AIDS patients: associated with HHV8)
Deep, labored breathing/hyperventilation
kussmaul breathing (diabetic ketoacidosis)
Dermatitis, dementia, diarrhoea
Pellagra (niacin B3 deficiency)
Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beri beri - vit B1 deficiency
Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjögren’s syndrome (autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs) glossitis, iron deficiency anaemia
Plummer-Vinson syndrome –> may progress to oesophageal SCC
Elastic skin, hypermobility of joints
Ehlers Danlos Syndrome (Type III collagen defect)
Enlarged, hard left supraclavirular node
Virchow’s node (abdo metastases - stomach, pancreas)
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells
Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcaemia)
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 toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Measles (Morbillivirus)
Fever, night sweats, weight loss
B symptoms (staging) of Lymphoma
Fibrous plaques in soft tissue of penis
Peyronie’s disease (CT disorder)
Gout, mental retardation, self-mutilating behaviour in 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 (inherited, benign polyposis can cause bowel obstruction)
incr cancer risk (mainly GI)
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Gaucher’s disease (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alport syndrome (mutation of alpha chain of 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, polycythaemia, hypercapnia
“blue bloater” chronic bronchitis, hyperplasia of mucous cells
Indurated, ulcerated genital lesion
nonpainful: chancre (primary syphilus, treponema pallidum)
painful, with exudate: chancroid (haemophilus ducreyi)
Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactaly, cutis aplasia
Patau’s syndrome (trisomy 13)
Infant with failure to thrive, hepatosplenomegaly and 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)
Jaundice, palpable distended non-tender gallbladder
Courvoisier’s sign (distal obstruction of biliary tree)
Large rash with bull’s eye appearance
Erythema chronicum migrans from Ixodes tick bite (lymes 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 agammaglobulinaemia)
Mucosal bleeding and prolonged bleeding time
Glanzmann’s thrombasthenia (defect in platelet aggregation d/t lack of GP2b3a)
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)
Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe’s disease (lysosomal alpha1,4-glucosidase deficiency
Neonate with arm paralysis following difficult birth
Erb-duchenne palsy (superior trunk C5-6 brachial plexus injury: “waiter’s tip”)
No lactation postpartum, absent menstruation, cold intolerance
Sheehan’s syndrome (pituitary infarction)
Oscillation slow/fast breathing
Cheyne-stokes respirations (central apnea in CHF or Incr ICP)
Painful blue fingers/toes, haemolytic anaemia
Cold agglutinin disease (AI haemolytic anaemia caused by mycoplasma pneumonia, infectiuos mononucleosis)
Painful, pale, cold fingers/toes
Raynaud’s phenomenon - vasospasm in extremity
Painful raised red lesion on pad of fingers or toes
Osler’s node (infective endocarditis, immune complex deposition)
Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Painless jaundice
cancer of the head of pancreas obstructing bile duct
palpable purpura on buttocks/legs, joint pain, abdo pain (child), haematuria
Henoch-schonlein purpura (IgA vasculitis affecting skin and kidneys)
Pancreatic, pituitary, parathyroid tumours
MEN1 (autosomal dominant)
Periorbital and or peripheral oedema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
PHAROH
Pink complexion, dyspnoea, hyperventilation
“Pink puffer”
emphysema - centriacinar - smoking. Panacinar - alpha1-antitrypsin deficiency
Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphataemic rickets
Fanconi syndrome (proximal tubular reabsorption defect
Positive anterior drawer sign
anterior cruciate ligament injury
pruritic, purple, polygonal planar papules and plaques
6Ps Lichen planus
Ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
pupil accommodates but doesnt react
Argyll Robertson pupil (neurosyphilis)
Rapidly progressive leg weaknes that ascends following GI or upper resp infetion
Guillian-barre syndrome (acute autoimmune inflammatory demyelinating polyneuropathy)
Rash on palms and soles
Coxsackie A, secondary syphilis or Rocky Mountain spotted fever
Recurrent colds, unusual eczema, high serum IgE
Hyper IgE syndrome (Job’ syndrome: neutrophil chemotaxis abnormality)
Red “currant jelly” sputum in alcoholic or diabetic patients
Klebsiella pneumoniae
Red “currant jelly” stools
Acute mesenteric ischaemia - adults
intussusception - infants
Red, itchy, swollen rash of nipple/areola
Paget’s disease of the breast
reprsents underlying neoplasm
Red urine in the morning, fragile RBC’s
Paroxysmal nocturnal haemoglobinuria
Renal cell carcinoma (bilateral, hemangioblastomas, angiomatosis, phaeochromocytoma
von Hippel Lindau disease
- dominant tumour suppressor gene mutation
Resting tremor, rigidity, akinesia, postural instability
Parkinson’s disease (nigrostriatal dopamine depletion)
Retinal haemorrhages with pale centres
Roth’s spots - bacterial endocarditis
Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinaemia)
Severe RLQ pain with palpation of LLQ
Rovsing’s sign - acute appendicitis
Severe RLQ pain with rebound tenderness
Mcburney’s sign - appendicitis
Short stature, incr incidence of tumours/leukaemia, aplastic anaemia
Fanconi’s anaemia
genetic loss of DNA cross link repair; often progresses to AML
single palmar crease
Simian crease - Down Syndrome trisomy 21
Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener’s syndrome
dynein arm defect affecting cilia
skin hyperpigmentation, hypotension, fatigue
Addison’s disease
primary adrenocortical insufficiency causes incr ACTH and incr alpha-MSH production
Slow, progressive muscle weakness in boys
Becker’s muscular dystrophy
- X linked missense mutation in dystrophin; less severe than duchennes
small, irregular red spots on buccal/lingual mucosa with blue-white centres
Koplik spots
- measles; rubeolar virus
smooth, flat, moist, painless white lesions on genitals
condylomata lata - secondary syphilis
splinter hemorrhage in fingernails
bacterial endocarditis
Strawberry tongue
Scarlet fever, kawasaki disease, toxic shock syndrome
Streak ovaries, congenital hear disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner’s syndrome 45XO
Sudden swollen painful big toe joint, tophi
Gout + podagra - hyperuricaemia
swollen gums, mucosal bleeding, poor wound healing, spots on skin
Scurvy
Vitamin C deficiency - cannot hydroxylate proline/lysine for collagen synthesis
Swollen, hard, painful finger joints
Osteoarthritis - osteophytes on PP (bouchard’s) and DIP (herberden’s nodes)
Systolic ejection murmur
crescendo-decrescendo murmur
Aortic valve stenosis
Thyroid and parathyroid tumours, phaeochromocytoma
MEN 2A - autosomal dominant ret mutation
thyroid tumours, phaeochromocytoma, ganglioneuromatosis
MEN 2B - autosomal dominant ret mutation
Toe extension/fanning upon plantar scrape
Banbinski sign - UMN lesion
Unilateral facial drooping involving forehead
facial nerve LMN CNVII palsy
Urethritis, conjunctivitis, arthritis in male
Reactive arthritis associated with HLA B27 + STI
Vascular birthmark (port-wine stain)
Hemangioma - benign but associated with Sturge-weber syndrome
Vomitting blood following gastrooesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
weight loss, diarrhoea, arthritis, fever, adenopathy
Whipple’s disease - tropheryma whipplei
Worst headache of my life
subarachnoid haemorrhage
