First Aid Classic Presentations Flashcards
Classic Presentations:
Abdominal pain;
Ascites;
Hepatomegaly
Budd-Chiari syndrome / posthepatic venous thrombosis
Classic Presentations: Abdominal pain; Diarrhea; Leukocytosis; Recent antibiotic use
Clostridium Difficile infection
Classic Presentations:
Achilles tendon xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Classic Presentations:
Adrenal hemorrhage;
Hypotension;
DIC
Waterhouse-Friderichsen syndrome (meningiococcemia)
Classic Presentations:
Anaphylaxis following blood transfusion
IgA deficiency
Classic Presentations:
Anterior “drawer sign” +
Anterior cruciate ligament injury
Classic Presentations: Arachnodactyly; Lens dislocation; Aortic dissection; Hyperflexible joints
Marfan syndrome (fibrillin defect)
Classic Presentations:
Athlete with polycythemia
Secondary to erythropoietin injection
Classic Presentations:
Back pain;
Fever;
Night sweats
Pott disease (vertebral TB)
Classic Presentations:
Bilateral acoustic schwannomas
Neurofibromatosis Type 2
Classic Presentations:
Bilateral hilar adenopathy;
Uveitis
Sarcoidosis (noncaseating granulomas)
Classic Presentations:
Black eschar on face of patient with diabetic ketoacidosis
Mucor or Rizopus fungal infection
Classic Presentations:
Blue sclera
Osteogenesis imperfecta (type I collagen defect)
Classic Presentations:
Bluish line on gingiva
Burton line (lead poisoning)
Classic Presentations:
Bone pain;
Bone enlargement;
Arthritis
Paget disease of bone (increased osteoblastic and osteoclastic activity)
Classic Presentations:
Bounding pulses;
Diastolic heart murmur;
Head bobbing
Aortic regurgitation
Classic Presentations:
“Butterfly” facial rash and Raynaud phenomenon in a young female
Systemic Lupus Erythematosus
Classic Presentations: Cafe-au-lait spots; Lisch nodules (iris hamartoma); Cutaneous neurofibromas; Pheochromocytomas; Optic gliomas
Neurofibromatosis type I;
Pheochromocytomas;
Optic gliomas
Classic Presentations: Cafe-au-lait spots (unilateral); Polyostic fibrous dysplasia; Precocious puberty; Multiple endocrine abnormalities
McCune-Albright syndrome (mosaic G-protein signaling mutation)
Classic Presentations:
Calf pseudohypertrophy
Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
Classic Presentations: Cervical lymphadenopathy; Desquamating rash; Coronary aneurysms; Red conjunctivae and tongue
Kawasaki disease (treat with IVIG and aspirin)
Classic Presentations:
“Cherry red” spots on macula
Tay-Sachs (ganglioside accumulation);
Niemann-Pick (sphingomyelin accumulation);
Central retinal artery occlusion
Classic Presentations:
Chest pain on exertion
Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)
Classic Presentations:
Chest pain;
Pericardial effusion/friction rub;
Persistent fever following MI
Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2-12 weeks after cute episode)
Classic Presentations:
Chest pain with ST depression on EKG
Unstable angina (troponins -) or NSTEMI (troponins +)
Classic Presentations:
Child uses arms to stand up from squat
Duchenne Muscular Dystrophy (Gower’s sign)
Classic Presentations:
Child with a fever later develops red rash on face that spreads to body
Erythema infectiosum/Fifth Disease/Parvovirus B19 (“Slapped cheeks”)
Classic Presentations:
Chorea;
Dimentia;
Caudate degeneration
Huntington disease (autosomal dominant CAG repeat expansion)
Classic Presentations:
Chorioretinitis;
Hydrocephalus;
Intracranial calcifications
Congenital toxoplasmosis
Classic Presentations:
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
Classic Presentations: Cold intolerance
Hypothyroidism
Classic Presentations: Conjugate horizontal gaze palsy, horizontal diplopia
Internuclear opthalmoplegia (damage to MLF, may be unilateral or bilateral)
Classic Presentations: Continuous “machine-like” heart murmur
PDA (close with indomethacin; open or maintain with PGE analogs)
Classic Presentations: Cutaneous flushing, diarrhea, bronchospasm
Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA)
Classic Presentations: Dark purple skin/mouth nodules in patients with AIDS
Kaposi sarcoma, associated with HHV-8
Classic Presentations: Deep, labored breathing/hyperventilation
Kussmaul respirations (diabetic ketoacidosis)
Classic Presentations: Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
Classic Presentations: Dilated cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (thiamine [B1] deficiency)
Classic Presentations: Dog or cat bite resulting in infection
Pasteurella multocida (cellulitis at inoculation site)
Classic Presentations: Dry eyes, mouth, arthritis
Sjodren syndrome (autoimmune destruction of exocrine glands)
Classic Presentations: Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)
Classic Presentations: Elastic skin, hypermobility of joints, increased bleeding tendency
Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
Classic Presentations: Enlarged, hard left supraclavicular node
Virchow node (abdominal metastasis)
Classic Presentations: Episodic vertigo, tinnitus, hearing loss
Meniere disease
Classic Presentations: Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells
Mycosis fungoides (cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides + malignant T-cells in blood
Classic Presentations: Facial muscle spasm upon tapping
Chvostek sign (hypocalcemia)
Classic Presentations: Fat, female, forty and fertile
Cholelithiasis (gallstones)
Classic Presentations: Fever, chills, headache, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)
Classic Presentations: Fever, cough, conjunctivitis, coryza, diffuse rash
Measles
Classic Presentations: Fever, night sweats, weight loss
B symptoms (staging) of lymphoma
Classic Presentations: Fibrous plaques in soft tissue of penis with abnormal curvature
Peyronie disease (connective tissue disorder)
Classic Presentations: Golden brown rings around peripheral cornea
Kayser-Fleischer rings (copper accumulation in Wilson disease)
Classic Presentations: Gout, intellectual disability, self-mutilating behavior in a boy
Lesch-Nyhan sydrome (HGPRT deficiency, X-linked recessive)
Classic Presentations: Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands/genitalia
Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)
Classic Presentations: Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crisis
Gaucher disease (glucocerebrosidase deficiency)
Classic Presentations: Hereditary nephritis, sensorineual hearing loss, cataracts
Alport syndrome (mutation in collagen IV)
Classic Presentations: Hyperphagia, hypersexuality, hyperorality, hyperdocility
Kluver-Bucy syndrome (bilateral amygdala lesion, Alex Ronis self-diagnosis)
Classic Presentations: Hyperreflexia, hypertonia, Babinski sign present
UMN damage
Classic Presentations: Hyporeflexia, hypotonia, atrophy, fasciculations
LMN damage
Classic Presentations: Hypoxemia polycythemia, hypercapnia
“Blue bloater” (chronic bronchitis, hyperplasia of mucous cells)
Classic Presentations: Indurated, ulcerated genital lesion
Nonpainful: chancre (Primary syphilis, treponema pallidum)
Painful with exudate: chancroid (Haemophilus ducreyi)
Classic Presentations: Infant with “cherry-red” spot on macula, hepatosplenomegaly, neurodegeneration
Niemann-Pick disease (genetic sphingomyelinase deficiency)
Classic Presentations: Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patau syndrome (trisomy 13)
Classic Presentations: Infant with hypoglycemia, hepatomegaly
Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
Classic Presentations: Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect
Edwards syndrome (trisomy 18)
Classic Presentations: Jaundice, palpable distended non-tender gallbladder
Courvoisier sign (distal obstruction of biliary tree)
Classic Presentations: Large rash with bull’s-eye appearance
Erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
Classic Presentations: Lucid internal after TBI
Epidural hematoma (middle meningeal artery rupture)
Classic Presentations: Male child, recurrent infections, no mature B cells
Bruton disease (X-lined agammaglobulinemia)
Classic Presentations: Mucosal bleeding and prolonged bleeding time
Glanzmann thrombasthemia (defect in platelet aggregation due to lack of GpIIb/IIIa)
Classic Presentations: Muffled heart sounds, distended neck veins, hypotension
Beck triad of cardiac tamponade
Classic Presentations: Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth
Gardner syndrome (subtype of FAP, familial colorectal polyposis)
Classic Presentations: Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
Pompe disease (lysosomal alpha-1,4-glucosidase deficiency)
Classic Presentations: Neonate with arm paralysis following difficult birth
Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury: “waiter’s tip”)
Classic Presentations: No lactation postpartum, absent menstruation, cold intolerance
Sheehan syndrome (pituitary infarction)
Classic Presentations: Nystagmus, intention tremor, scanning speech, bilateral internuclear opthalmoplegia
Multiple sclerosis
Classic Presentations: Painful blue fingers/toes, hemolytic anemia
Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL)
Classic Presentations: Painful fingers/tes changing color from blue to white to red with cold or stress
Raynaud phenomenon (vasospasm in extremities)
Classic Presentations: Painful, raised red lesions on pads of fingers/toes
Osler nodes (infective endocarditis, immune complex deposition)
Classic Presentations: Painless erythematous lesions on palms and soles
Janeway lesions (infective endocarditis, septic emboli/microabscesses)
Classic Presentations: Painless jaundice
Cancer of the pancreatic head obstructing bile duct
Classic Presentations: Palpable purpura on buttocks/legs, joints pain, abdominal pain (child), hematuria
Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)
Classic Presentations: Pancreatic, pituitary and parathyroid tumors
MEN (multiple endocrine neoplasia) 1 (autosomal dominant)
Classic Presentations: Perorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia
Nephrotic syndrome
Classic Presentations: Pink complexion, dyspnea, hyperventilation
“Pink puffer” (emphysema: centriacinar [smoking], panacinar [alpha-1-antitrypsin deficiency])
Classic Presentations: Polyuria, renal tubular acidosis type II, growth failure, electrolyte imbalances, hypophosphatemic rickets
Fanconi syndrome (multiple combined dysfunction of the PCT)
Classic Presentations: Pruritic, purple, polygonal, planar papules and plaques (6 P’s)
Lichen planus
Classic Presentations: Ptosis, miosis, anhidrosis
Horner’s syndrome (sympathetic chain lesion)
Classic Presentations: Pupil accommodates but doesn’t react
Argyll-Robertson pupil (neurosyphilis)
Classic Presentations: Rapidly progressive limb weakness that ascends following GI/upper respiratory infection
Guillain-Barre syndrome (acute inflammatory demyelinating polyradiculopathy subtype)
Classic Presentations: Rash on palms and soles
Coxsackie A
Secondary syphylis
RMSF
Classic Presentations: Recurrent cold (noninflamed) abscesses, unusual eczema, high serum IgE
Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality)
Classic Presentations: Red “current jelly” sputum in alcoholic or diabetic patients
Klebsielle pneumoniae pneumonia
Classic Presentations: Red “currant jelly” stools
Acute mesenteric ischemia (adults);
Intussusception (children)
Classic Presentations: Red, itchy, swollen rash of nipple/areola
Paget disease of breast (sign of underlying neoplasm)
Classic Presentations: Red urine in the morning, fragile RBCs
Paroxysmal nocturnal hemoglobinuria
Classic Presentations: Renal cell carcinoma (bilateral), hemangioblastomaa, angiomatosis, pheochromocytoma
von Hippel-Lindau disease (dominant tumor suppressor gene mutation)
Classic Presentations: Resting tremor, akinesia, postural instability, shuffling gait
Parkinson’s disease (loss of dopaminergic neurons in substantia nigra)
Classic Presentations: Retinal hemorrhages with pale centers
Roth spots (bacterial endocarditis)
Classic Presentations: Severe jaundice in neonate
Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)
Classic Presentations: Severe RLQ pain with palpation of LLQ
Rovsing sign (acute appendicitis)
Classic Presentations: Severe RLQ pain with rebound tenderness
McBurney sign (acute appendicitis)
Classic Presentations: Short stature, cafe au lait spots, thumb/radial defects, increased incidence of tremors/leukemia, aplastic anemia
Fanconi anemia (genetic loss of DNA crosslink repair, often progresses to AML)
Classic Presentations: Single palmar crease
Down syndrome
Classic Presentations: Situs inversus, chronic sinusitis, bronchiectasis, infertility
Kartagener syndrome (dynein arm defect affecting cilia)
Classic Presentations: Skin hyperpigmentation, hypotension, fatigue
Primary adrenocortical insufficiency (ie Addison disease) causes increased ACTH and increased alpha-MSH production
Classic Presentations: Slow, progressive muscle weakness in boys
Becker muscular dystrophy (X-linked missense mutation in dystrophin, less severe than Duchenne)
Classic Presentations: Small, irregular red-spots on buccal/lingual mucosa with blue-white centers
Koplick spots (measles-Rubeola virus)
Classic Presentations: Smooth, moist, painless, wart-like, white lesions on genitals
Condylomata lata (secondary syphilis)
Classic Presentations: Splinter hemorrhages in fingernails
Bacterial endocarditis
Classic Presentations: “Strawberry tongue”
Scarlet fever;
Kawasaki disease
Classic Presentations: Streak ovaries, congenital heart disease, horseshoe kidey, cystic hygroma at birth, short stature, webbed neck, lymphedema
Turner syndrome (45,X)
Classic Presentations: Sudden swollen/painful big toe, tophi
Gout/podagra (hyperuricemia)
Classic Presentations: Swollen gums, mucosal bleeding, poor wound healing, petechiae
Scurvy (vitamin C deficiency: can’t hydroxylate proline/lysin for collagen synthesis)
Classic Presentations: Swollen, hard, painful finger joints
Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])
Classic Presentations: Systolic ejection murmur (crescendo-decrescendo)
Aortic stenosis
Classic Presentations: Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria
Olser-Weber-Rendu syndrome
Classic Presentations: Thyroid and parathyroid tumors, pheochromocytoma
MEN 2A (autosomal dominant RET mutation) (MEN = multiple endocrine neoplasia)
Classic Presentations: Thyroid tumors, pheochromocytoma, ganglioneuromatosis
MEN 2B (autosomal dominant RET mutation) (MEN = multiple endocrine neoplasia)
Classic Presentations: Toe extension/fanning upon plantar scrape
Babinski sign (UMN lesion)
Classic Presentations: Unilateral facial drooping involving forehead
LMN facial nerve (CN VII) palsy;
UMN lesions spare the forehead
Classic Presentations: Urethritis, conjuctivitis, arthritis in a male
Reactive arthritis associated with HLA-B27
Classic Presentations: Vascular birthmark (port-wine stain) of the face
Nevus flammeus (benign, but associated with Sturge-Weber syndrome)
Classic Presentations: Vomiting blood following gastroesophageal lacerations
Mallory-Weiss syndrome (alcoholic and bulimic patients)
Classic Presentations: Weight loss diarrhea, arthritis, fever, adenopathy
Whipple disease (Tropheryma whipplei)
Classic Presentations: “Worst headache of my life”
Subarachnoid hemorrhage