FA - Classic Presentations Flashcards
Achilles tendon xanthoma
Familial hypercholesterolemia (DOWN LDL receptors signaling)
Adrenal hemorrhage
Hypotension
DIC
Waterhouse-Friederichsen (meningococcemia)
Anterior “drawer sign” (+)
Anterior cruciate ligament injury.
Arachnodactyly
Lens dislocation
Aortic dissection
Hyperflexible joints
Marfan
Athlete with polycythemia
Secondary to erythropoietin injection.
Back pain
Fever
Night sweats
Weight loss
Pott disease (vertebral TB)
Bilateral hilar lymphadenopathy
Uveitis
Sarcoidosis
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
Bounding pulses
Diastolic heart murmur
Head bobbing
Aortic regurgitation
“Butterfly” rash + Raynaud phenomenon in a young female?
SLE
Cafe-au-lait spots Lisch nodules (iris hamartomas)
NF-1 (+pheochromocytoma, optic gliomas)
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Precocious puberty
Multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation).
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne): X-linked recessive deletion of dystrophin gene.
“Cherry-red spots” on macula
Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation) or central 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 syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)
Child uses arms to stand up from squat.
Gowers sign –> Duchenne muscular dystrophy
Child with fever later develops red rash on face that spreads to body.
“Slapped cheeks” - Erythema infectiosum - 5th disease - B19.
Chorea
Dementia
Caudate degeneration
Huntington disease (AD CAG repeat expansion).
Chronic exercise intolerance with myalgia
Painful cramps
Myoglobinuria
McArdle disease (muscle glycogen phosphorylase deficiency).
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy
Horizontal diplopia
Internuclear ophthalmoplegia - Damage to MLF - Bilateral –> MS - Unilateral –> Stroke.
Continuous “machine-like” heart murmur
PDA - Close with indomethacin; open or maintain with misoprostol.
Cutaneous/dermal edema due to connective tissue deposition.
Myxedema - Hypothyroidism, Graves (pretibial).
Dark purple skin
Mouth nodules in an AIDS patient
Kaposi sarcoma (HHV-8).
Deep, labored breathing
Hyperventilation
Kussmaul respirations (DKA).
Dermatitis
Dementia
Diarrhea
Pellagra - niacin (B3) deficiency.
DCM
Edema
Alcoholism or malnutrition
Wet beriberi (thiamine (B1) deficiency).
Dog or cat bite resulting in infection.
P.multocida (cellulitis at inoculation site).
Dry eyes
Dry mouth
Arthritis
Sjogren syndrome
Dysphagia (esophageal webs)
Glossitis
Iron deficiency
Anemia
Plummer-Vinson syndrome –> May progress to esophageal SCC.
Elastic skin
Hypermobility of joints
EDS (type III collagen defect).
Enlarged, hard left supraclavicular node.
Virchow node - abdominal metastasis.
Erythroderma
Lymphadenopathy
HSM
Atypical T cells
Mycosis fungoides (cutaneous T cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T cells in blood).
Fever Chills Headache Myalgia following antibiotic treatment for syphilis.
Jarisch-Herxheimer reaction - rapid lysis of spirochetes results in toxin release.
Fever Diffuse Rash Cough Conjunctivitis Coryza
Measles
Fever
Night sweats
Weight loss
B symptoms
Fibrous plaques in soft tissue of penis
Peyronie disease (connective tissue disorder).
Gout
Intellectual disability
Selft-mutilating behavior in a boy
Lesch-Nyhan syndrome - HGPRT deficiency, X-linked recessive.
Green-yellow rings around peripheral cornea.
Kayser-Fleischer rings.
HSM
Osteoporosis
Neurologic symptoms
Gaucher disease (glucocerebrosidase deficiency)
Hereditary nephritis
Sensorineural hearing loss
Cataracts
Alport syndrome (mutation in collagen IV).
Hyperphagia
Hypersexuality
Hyperorality
Hyperdocility
Kluver-Bucy lesion - bilateral amygdala lesion.
Hyperreflexia
Hypertonia
Babinski (+)
UMN damage
Hyporeflexia
Hypotonia
Atrophy
Fasciculations
LMN damage
Hypoxemia
Polycythemia
Hypercapnia
“Blue bloatter” - chronic bronchitis.
Indurated, ulcerated genital lesion.
Nonpainful –> Chancre
Painful, with exudate –> Chancroid –> H.ducreyi.
Infants with cleft lip/palate
Microcephaly or Holoprosencephaly
Polydactyly
Cutis aplasia
Patau (trisomy 13).
Infants with failure to thrive
HSM
Neurodegeneration
Niemann-Pick (genetic sphingomyelinase deficiency)
Infant with hypoglycemia
Failure to thrive
Hepatomegaly
- Cori disease (debranching enzyme def.)
2. von Gierke (Glucose-6-phosphatase deficiency, more severe).
Infants with microcephaly
Rocker-bottom feet
Clenched hands
Structural heart defect
Edwards (trisomy 18)
Jaundice
Palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree).
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 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 of FAP)
Myopathy (infantile hypertrophic cardiomyopathy)
Exercise intolerance
Pompe disease (lysosomal α-1,4-glucosidase deficiency)
Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy –> superior trunk (C5-C6) brachial plexus inury: “waiter’s tip”.
No lactation postpartum
Absent menstruation
Cold intolerance
Sheehan syndrome (pituitary infarction)
Nystagmus
Intention tremor
Scanning speech
Bilateral internuclear ophthalmoplegia
Multiple scleroris
Oscillating slow/fast breathing
Cheyne-Stokes respirations –> central apnea in CHF or Incr. intracranial pressure.
Painful blue fingers/toes
Hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by M.pneumoniae, IM).
Painful
Pale
Cold fingers/toes
Raunaud phenomenon (vasospasm in extremities).
Painful, raised red lesions on pad of fingers/toes.
Osler nodes (IE, immune complex deposition).
Painless erythematous lesions on palms and soles
Janeway lesions - IE, septic emboli, microabscesses.
Painless jaundice
Cancer of the pancreatic head obstructing the 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
MEN 1 (AD)
Periorbital and/or peripheral edema
Proteinuria
Hypoalbuminemia
HyperCH
Nephrotic syndrome
Pink complexion
Dyspnea
Hyperventilation
“Pink puffer” - emphysema - centriacinar (smoking), panacinar (alpha-1 antitrypsin.
Polyuria Renal tubular acidosis type II Growth failure Electrolyte imbalances Hypophosphatemic rickets
Fanconi syndrome - proximal tubule reabsorption defect.
Pruritic, purple, polygonal planar papules and plaques (6P’s)
Lichen planus
Ptosis
Miosis
Anhydrosis
Horner (sympathetic chain lesion)
Pupil accomodates but doesn’t react
Argyll-Robertson pupil (neurosyphilis).
Rapidly progressive leg weakness that ascends following GI/upper respiratory tract infection.
Guillain-Barre syndrome - acute autoimmune inflammatory demyelinating polyneuropathy.
Rash on palms and soles
- Coxsackie A
- 2o syphilis
- RM 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.
K.pneumoniae
Red “currant jelly” stools
Acute mesenteric ischemia - adults.
Intussusception - infants.
Red, itchy, swollen rash of nipple/areola
Paget disease of the breast - sign of UNDERLYING NEOPLASM
Red urine in the morning
Fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Renal cell carcinoma (bilateral)
Hemangioblastomas
Angiomatosis
Pheochromocytoma
von Hippel-Lindau
Resting tremor
Rigidity
Akinesia
Postural instability
Parkinson
Retinal hemorrhages with pale centers
Roth spots - Bacterial endocarditis
Severe jaundice in neonates.
Crigler-Najjar syndrome - congenital unconjugated hyperbilirubinemia
Severe RLQ pain with palpation of LLQ.
Rovsing sign - acute appendicitis.
Severe RLQ pain with rebound tenderness.
McBurney sign - Acute appendicitis.
Short stature
UP incidence of tumors/leukemia
Aplastic anemia
Fanconi anemia - genetic loss of DNA crosslink repair; often progresses to AML!
Single palmar crease
Down
Situs inversus
Chronic sinusitis
Bronchiectasis
Infertility
Kartagener syndrome - dynein arm defect affecting cilia.
Small irregular red spots on buccal/lingual mucosa with blue-white centers
Koplik spots (measles, rubeola virus).
Smooth, flat, moist, painless white lesions on genitals.
Condylomata lata (2o syphilis).
Splinter hemorrhages in finger nails.
Bacterial endocarditis
“Strawberry tongue”
- Scarlet fever
- Kawasaki
- Toxic shock syndrome
Streak ovaries Congenital heart disease Horseshoe kidney Cystic hygroma at birth Short stature Webbed neck Lymphedema
Turner (45XO)
Sudden swollen/painful big toe joint, tophi.
Gout/Podagra (hyperuricemia).
Swollen gums
Mucosal bleeding
Poor wound healing
Petechiae
VitC def –> Can’t hydroxylate proline/lysine for collagen synthesis.
Swollen, hard, painful finger joints.
Osteoarthritis - osteophytes on PIP (Bouchard nodes), DIP (Heberden nodes).
Systolic ejection murmur - crescendo/decrescendo.
Aortic valve stenosis
Thyroid
Parathyroid tumors
Pheochromocytoma
MEN2A (AD RET mutation)
Thyroid tumors
Pheochromocytoma
Ganglioneuromatosis
MEN2B (AD RET mutation)
Toe extension/fanning upon plantar scrape.
Babinski sign (UMN lesion)
Unilateral facial drooping involving forehead
Facial nerve (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 gastroesophageal lacerations
Mallory-Weiss syndrome - alcoholic and bulimic patients.
Weight loss Diarrhea Arthritis Fever Adenopathy
Whipple disease (trophyrema whipplei)
“Worst headache of my life”
Subarachnoid hemorrhage
Abdominal pain
Ascites
Hepatomegaly
Budd-Chiari syndrome - Post hepatic venous thrombosis.