First Aid Classic Presentations Flashcards by Mary Slome

Classic Presentations:
Abdominal pain;
Ascites;
Hepatomegaly

Budd-Chiari syndrome / posthepatic venous thrombosis

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Classic Presentations:
Abdominal pain;
Diarrhea;
Leukocytosis;
Recent antibiotic use

Clostridium Difficile infection

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Classic Presentations:

Achilles tendon xanthoma

Familial hypercholesterolemia (decreased LDL receptor signaling)

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Classic Presentations:
Adrenal hemorrhage;
Hypotension;
DIC

Waterhouse-Friderichsen syndrome (meningiococcemia)

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Classic Presentations:

Anaphylaxis following blood transfusion

IgA deficiency

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Classic Presentations:

Anterior “drawer sign” +

Anterior cruciate ligament injury

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Classic Presentations:
Arachnodactyly;
Lens dislocation;
Aortic dissection;
Hyperflexible joints

Marfan syndrome (fibrillin defect)

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Classic Presentations:

Athlete with polycythemia

Secondary to erythropoietin injection

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Classic Presentations:
Back pain;
Fever;
Night sweats

Pott disease (vertebral TB)

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Classic Presentations:

Bilateral acoustic schwannomas

Neurofibromatosis Type 2

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Classic Presentations:
Bilateral hilar adenopathy;
Uveitis

Sarcoidosis (noncaseating granulomas)

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Classic Presentations:

Black eschar on face of patient with diabetic ketoacidosis

Mucor or Rizopus fungal infection

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Classic Presentations:

Blue sclera

Osteogenesis imperfecta (type I collagen defect)

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Classic Presentations:

Bluish line on gingiva

Burton line (lead poisoning)

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Classic Presentations:
Bone pain;
Bone enlargement;
Arthritis

Paget disease of bone (increased osteoblastic and osteoclastic activity)

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Classic Presentations:
Bounding pulses;
Diastolic heart murmur;
Head bobbing

Aortic regurgitation

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Classic Presentations:

“Butterfly” facial rash and Raynaud phenomenon in a young female

Systemic Lupus Erythematosus

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Classic Presentations:
Cafe-au-lait spots;
Lisch nodules (iris hamartoma);
Cutaneous neurofibromas;
Pheochromocytomas;
Optic gliomas

Neurofibromatosis type I;
Pheochromocytomas;
Optic gliomas

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Classic Presentations:
Cafe-au-lait spots (unilateral);
Polyostic fibrous dysplasia;
Precocious puberty;
Multiple endocrine abnormalities

McCune-Albright syndrome (mosaic G-protein signaling mutation)

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Classic Presentations:

Calf pseudohypertrophy

Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

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Classic Presentations:
Cervical lymphadenopathy;
Desquamating rash;
Coronary aneurysms;
Red conjunctivae and tongue

Kawasaki disease (treat with IVIG and aspirin)

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Classic Presentations:

“Cherry red” spots on macula

Tay-Sachs (ganglioside accumulation);
Niemann-Pick (sphingomyelin accumulation);
Central retinal artery occlusion

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Classic Presentations:

Chest pain on exertion

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

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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)

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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

First Aid Classic Presentations Flashcards

(126 cards)