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Abdominal pain, ascites, hepatomegaly correct answers Budd-Chiari Syndrome (post hepatic venous thrombosis). Associated with Polycythemia vera. Achilles tendon Xanthoma correct answers Familial Hypercholesterolemia (absent/defective LDL receptors) May have MI before age 20 Autosomal dominant Adrenal hemorrhage, hypotension, DIC correct answers Waterhouse-Friedrichsen syndrome (Neisseria meningitidis) Anaphylaxis and/or angioedema following blood transfusion correct answers IgA deficiency; C1 inhibitor deficiency would only cause angioedema, not anaphylaxis Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible joints, pectus excavatum correct answers Marfan Syndrome (FBN1 gene mutation chromosome 15 leads to defective fibrillin) Autosomal Dominant Athlete with polycythemia correct answers Secondary to EPO injection Back pain, fever, night sweats correct answers Pott disease (vertebral TB) Bilateral acoustic schwannomas correct answers Neurofibromatosis type 2 S-100+, cerebellopontine angle Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D), interstitial fibrosis, erythema nodosum, elevated CD4:CD8 ratio on lavage; asteroid bodies correct answers Sarcoidosis (non-caseating granulomas) Black eschar on face of patient with diabetic ketoacidosis correct answers Mucor or Rhizopus fungal infection Travels through cribiform plate vessels Blue sclera correct answers Osteogenesis Imperfecta (Type I collagen defect forming triple helix) Blue due to exposure of choroidal veins Bluish line on gingiva and basophilic stippling correct answers Burton line (lead poisoning) Basophilic stippling (rRNA remnants) Constipation, anemia, CNS impairment

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Step 1 First Aid Rapid Review || All Answers Are Correct
100%.
Abdominal pain, ascites, hepatomegaly correct answers Budd-Chiari Syndrome (post hepatic
venous thrombosis). Associated with Polycythemia vera.

Achilles tendon Xanthoma correct answers Familial Hypercholesterolemia (absent/defective
LDL receptors)
May have MI before age 20
Autosomal dominant

Adrenal hemorrhage, hypotension, DIC correct answers Waterhouse-Friedrichsen syndrome
(Neisseria meningitidis)

Anaphylaxis and/or angioedema following blood transfusion correct answers IgA deficiency; C1
inhibitor deficiency would only cause angioedema, not anaphylaxis

Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible
joints, pectus excavatum correct answers Marfan Syndrome (FBN1 gene mutation
chromosome 15 leads to defective fibrillin)
Autosomal Dominant

Athlete with polycythemia correct answers Secondary to EPO injection

Back pain, fever, night sweats correct answers Pott disease (vertebral TB)

Bilateral acoustic schwannomas correct answers Neurofibromatosis type 2
S-100+, cerebellopontine angle

Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D),
interstitial fibrosis, erythema nodosum, elevated CD4:CD8 ratio on lavage; asteroid bodies
correct answers Sarcoidosis (non-caseating granulomas)

Black eschar on face of patient with diabetic ketoacidosis correct answers Mucor or Rhizopus
fungal infection
Travels through cribiform plate vessels

Blue sclera correct answers Osteogenesis Imperfecta (Type I collagen defect forming triple
helix)
Blue due to exposure of choroidal veins

Bluish line on gingiva and basophilic stippling correct answers Burton line (lead poisoning)
Basophilic stippling (rRNA remnants)
Constipation, anemia, CNS impairment

,Bone pain, bone enlargement (hat size or hearing loss), arthritis correct answers Paget disease of
bone (Increased osteoclastic, then osteoblastic activity)
Osteosarcoma or heart failure

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing correct answers
Aortic Regurgitation

"Butterfly" facial rash or discoid rash and Raynaud phenomenon in a young female correct
answers Systemic lupus erythematosus
Type III Hypersensitivity (antigen-antibody complexes deposit) with glomerulonephritis
Type II hypersensitivity with autoimmune hemolysis

Carcinoma spread correct answers Lymphatics to lymph nodes (except HCC, Renal cell,
follicular thyroid and choriocarcinoma which spread hematogenously)

Sarcoma spread correct answers Hematogenously

Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas correct answers
Neurofibromatosis Type I, pheochromocytoma, optic gliomas

Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple
endocrine abnormalities correct answers McCune-Albright syndrome (mosaicism, G-protein
signaling mutation)

Calf pseudohypertrophy correct answers Muscular dystrophy (Duchenne, due to X-linked
frameshift > truncated dystrophin)
Dilated cardiomyopathy
High CK

Cervical lymphadenopathy, desquamating rash on palms and soles, coronary aneurysms, red
conjuctivae, and strawberry tongue correct answers Kawasaki disease (treat with IVIG and
aspirin which inhibits TXA2)

"Cherry-red spots" on macula correct answers Tay-Sachs (ganglioside accumulation - NO
hepatosplenomegaly)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion

Chest pain on exertion correct answers Angina (stable: with moderate exertion, *cellular
swelling indicates reversibility*, atherosclerosis; unstable: with minimal exertion or at rest,
partial occlusion)

Chest pain, pericardial effusion/friction rub, persistent fever weeks after an MI correct answers
Dressler syndrome (autoimmune reaction to necrotic tissue causing fibrinous pericarditis, 2-12
weeks after acute episode)

,Chest pain with ST depressions EKG correct answers Subendocaridal ischemia
Unstable angina (troponins -, reversible) and NSTEMI (troponins +, irreversible)

Child uses arms to stand up correct answers Duchenne Muscular Dystrophy (Gowers sign)

Child with fever later develops red rash on face that spreads to body correct answers "Slapped
cheeks" (Erythema infectiosum/fifth disease: parvovirus B19)
Single-stranded DNA virus
Aplastic Anemia in Sickle Cell, B-thalessemia

Chorea, dementia, caudate degeneration correct answers Huntington disease (AD, CAG repeat
expansion)
Hamiballismus caused by subthalamic nuclei
Loss of GABAergic neurons

Chorioretinitis, hydrocephalus, intracranial calcifications correct answers Congenital
Toxoplasmosis

Chronic exercise intolerance with myalgia, painful cramps, myoglobinuria correct answers AR
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)

Cold intolerance, weight gain, bradycardia, facial myxedema, *hypercholesterolemia* correct
answers Hypothyroidism

Conjugate horizontal gaze palsy, horizontal diplopia correct answers Internuclear opthalmoplegia
(damage to MLF; may be unilateral or bilateral)

Continuous "machine-like"heart murmur correct answers PDA (close with indomethacin; open
or maintain with PGE analogs)
Congenital Rubella
*Late cyanosis in lower extremity*

Cutaneous/dermal edema due to connective tissue deposition correct answers Myxedema (caused
by hypothyroidism, Graves disease [pretibial])

Cutaneous flushing, diarrhea, bronchospasm correct answers Carcinoid syndrome (right-sided
cardiac valvular fibrous lesions, Increased 5-HIAA in urine, 5-HT in serum)
Requires mets from GI to liver

Dark purple skin/ mouth nodules in a patient with AIDs correct answers Kaposi Sarcoma,
associated with HHV-8
Endothelial cell tumor, not of blood vessels (will not blanche)
Spindle cells
Spreads via blood

, Deep, labored breathing/hypoventilation correct answers Diabetic Ketoacidosis (Kussmaul
respirations)

Mild = glossitis
Severe = Broad collar Dermatitis, dementia, diarrhea, correct answers Pellagra (Niacin [B3]
Deficiency)
Caused by Hartnups or isoniazid (B6)

Dilated cardiomyopathy, edema, alcoholism or malnutrition correct answers Wet Beriberi
(Thiamine [B1] Deficiency)

Dog or cat bite resulting in infection correct answers Pasteurella multocida (cellulitis at
inoculation site) gram neg. coccobacillus

Dry eyes, dry mouth, arthritis, recurrent dental caries correct answers Sjogren syndrome
(autoimmune destruction of exocrine glands)
Can have RF, Anti-SSA or SSB
Lymphocytic sialadenitis
Risk of B-cell lymphoma

Dysphagia (esophageal webs), glossitis (beefy red tongue), iron deficiency anemia (spoon nails)
correct answers Plummer-Vinson syndrome (may progress to esophageal squamous cell
carcinoma)

Elastic skin, hyper-mobility of joints, increased bleeding tendency correct answers Ehlers-Danlos
syndrome (type V collagen defect, type III collagen defect seen in vascular ED)
Pro collagen molecules are not cleaved (N/C removal impaired)

Enlarged, hard left supraclavicular node correct answers Virchow node (metastasis from gastric
cancer)

Episodic vertigo, tinnitus, hearing loss correct answers Meniere disease: excess of endolymph
fluid in the inner ear

Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T-cells correct answers Mycosis
fungoides (Pautrier-cutaneous T-cell lymphoma) or Sezary syndrome (mycosis fungoides and
malignant T cells with cerebriform nuclei in blood)

Facial muscle spasm upon tapping correct answers Hypocalcemia (Chvostek sign)

Fat, female, forty and fertile correct answers Cholelithiasis (gallstones)

Fever, chills, headache, myalgia following antibiotic treatment for syphilis correct answers
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin release)

Fever, cough, conjunctivitis, coryza, diffuse rash correct answers Measles

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