Clinical Presentation Flashcards
Cutaneous/Dermal Edema due to CT deposition
Myxedema (caused by hypothyroidism, Grave’s Disease [periorbital])
Abdominal Pain, Ascites, Hepatomegaly
Budd Chiari syndrome (posthepatic venous thrombosis)
Achilles Tendon Xanthoma
Familial hypercholesterolemia (decreased LDL receptor signaling)
Adrenal Hemorrhage, Hypotension, DIC
Waterhouse Fridrichesin syndrome (meningoccemia)
Arachnodactyly, Lens dislocation, Aortic Dissection, Hyperflexible Joints
Marfan’s Syndrome (fibrillin defect)
Athlete w/Polycythemia
EPO injection
Back Pain, Fever, Night Sweats, Weight Loss
Pott’s Disease (vertebral TB)
Bilateral Hilar Adenopathy. Uveitis
Sarcoidosis (noncaseating granuloma)
Blue Sclera
Osteogenesis Imperfecta (collagen defect)
Bluish Line on Gingiva
Burton’s line (lead poisoning)
Bone Pain, Bone Enlargement, Arthritis
Paget’s Disease of Bone (increase osteoblastic and osteoclastic activity)
Bounding Pulses, Diastolic Heart Murmur, Head Bobbing
Aortic Regurgitation
“Butterfly” facial rash and Raynaud’s phenomenon in a young female
Systemic Lupus Erythematosus
Cafe au lait spots, Lisch Nodules (iris hamartoma)
Neurofibromatosis Type I (+pheochromocytoma, optic gliomas); Neurofibromatosis Type II (+bilateral acoustic neuromas)
Cafe au lait spots, Polyostotic Fibrous Dysplasia, Precocious Puberty
McCune Albright Syndrome (mosaic G protein signaling mutation)
Calf Pseudohypertrophy
Muscular Dystrophy (most commonly Duchenne’s); X-Linked recessive deletion of dystrophin gene
Cherry Red Spot on Macula
Tay Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), Central Retinal Artery occlusion
Chest Pain on Exertion
Angina (stable: moderate exertion; unstable: minimal exertion)
Chest Pain, Pericardial Effusion/friction rub, Persistent fever following MI
Dressler’s Syndrome (autoimmune mediated post MI fibrinous pericarditis, 1-12 weels after acute episode)
Child uses arms to stand up from squat
Gower’s sign (Duchenne Muscular Dystrophy)
Child w/fever develops red rash on face that spreads to body
“Slapped Cheeks” (erythema infetiosum/5th disease: parvovirus B19)
Chorea, Dementia, Caudate Degeneration
Huntington’s Disease (AD CAG repeat expansion)
Chronic Exercise intolerance w/myalgia, fatigue, painful cramps, myoglobinuria
McArdle’s Disease (muscle glycogen phosphorylase deficiency)
Cold intolerance
Hypothyroidism
Conjugate lateral gaze palsy, horizontal diplopia
Internuclear Ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke]
Continual “machinery” heart murmur
PDA (close w/Indomethacin; open w/Misoprostol)
Dark purple skin/mouth nodules
Kaposi’s sarcoma (usually AIDS patients [gay men]: associated w/HHV-8)
Deep, labored breathing/hyperventilation
Kussmal’s breathing (DKA)
Dermatitis, Dementia, Diarrhea
Pellegra (Niacin [vitamin B3] deficiency)
Dilated Cardiomyopathy, Edema, Polyneuropathy
Wet Beriberi (thiamine [vitamin B1 deficiency])
Dog or Cat bite resulting in infection
Pasteurella Multocida (cellulitis at inoculation site)
Dry eyes, dry mouth, arthritis
Sjorgen’s Syndrome (Autoimmune destruction of exocrine glands)
Dysphagia (esophageal webs), glossitis, iron deficiency anemia
Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma)
Elastic skin, hypermobility of joints
Ehlers-Danlos syndrome (type III collagen defect)
Enlarged, hard left supraclavicular node
Virchow’s node (abdominal metastasis)
Erythroderma, Lymphadenopathy, Hepatosplenomegaly, Atypical T cells
Sezary Syndrome (cutaneous T cell lymphoma) or mycoses fungoides
Facial muscle spasm upon tapping
Chvostek’s sign (hypocalcemia)
Fat
Female
Forty
Fertile
Acute Cholelithiasis (bile duct blockage)
Fever, chills, H/A, myalgia following antibiotic treatment for syphilis
Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
Fever, cough, conjunctivitis, coryza, diffuse rash
Mealers (morbillivirus)
Fever, Night Sweats, Weight Loss
B symptoms (lymphoma)
Gout, Mental retardation, self mutilating behavior in boy
Lesch-Nyhan Syndrome (HGPRT deficiency, X-Linked Recessive)
Green yellow rings around peripheral cornea
Kayser Flesicher rings (copper accumulations from Wilson’s Disease)
Hamartomatous GI polyps
Hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome (genetic benign polypsis can cause bowel obstruction; increase cancer risk)
Hepatosplenomegaly
Osteoporosis
Neurologic Sx
Gaucher’s Disease
(glucocerebrosidase deficiency)
Hereditary Nephritis
Sensorineural Hearing Loss
Cataracts
Alport Syndrome
(mutation in alpha chain of collagen IV)