Classic presentation Flashcards
abdominal pain ascites hepatomegaly
budd chiari syndrome - post hepatic venous thrombosis
achilles tendon xanthoma
familial hypercholesterolemian dec LDL R signaling
adrenal hemorrhage- hypotension-DIC
waterhouse-friderichsen syndrome- meningococcemia
arachnodactylyl lens dislocation- aortic dissection- hyperflexable joints
marfans syndrome -fibrillin defect
athlete w polycthemia
secondary to erythropoietin injection
back pain fever night sweats weight loss
potts disease -vertebral tuberculosis
bilateral hilar adenopathy- uveitis
sarcoidosis- noncaseating granulomas
blue sclera
osteogenesis imperfecta type 1 collagen defect
bluish line on gingiva
burtons line -lead poisoning
bone pain- bone enlargement- arthritis
pagets disease of the bone- increase osteoblastic & osteoclastic activity
bounding pulses, diastolic heart murmur- head bobbing
aortic regurg
butterfly facial rash, Raynouds phenomenon in young female-
SLE
cafe au laits spots - lisch nodules- iris hamartoma-
Neurofibromatosis type 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’s- Xlinked-Recessive deletion of dystrophin gene
cherry red spot on macula
tay-sachs- ganglioside accumulation or niemann pick spningomyelin accumulation- central retinal A occlusion.
chest pain on exertion
angina- stable with moderate exertion, unstable with minimal exertion.
chest pain pericardial effusion/friction rub -persistant fever following MI
Dresslers syndrome- autoimmune-mediated post MI fibrinous pericarditis, 1-2 weeks after acute episode.
child uses arms to stand up from squat
gowers sign- duschenne muscular dystrophy
child w fever later develops red rash on face that spreads to body
slapped cheeks- eryethema infectiousum-5ths disease parovirus B19
chorea, dementia, cuadate degeneration
huntingtons disease- AD CAG repeat expansion
chronic exercise intolerance with myalgia fatique painful cramps myoglobinuria-
McArdles disease- muscle glycogen phosphorylase deficiency.
cold intolerance
hypothyroidism
conjugate lateral gaze palsy, horizontal diplopia
Internuclear opthalmoplegia- damage to MLF- b/l MS or if unilateral from a stroke
continuous machinery heart murmur
PDA Closes with indomethacin -open or maintain w. misoprostol
cutaneous dermal edema due to CT deposition
myxedema caued by hypothyroidism, graves diseases- pretibial
dark purple skin/mouth nodules
kaposies sarcoma- usually AIDS pts MSM- associated w HHV8
deep labored breathing hyperventilation
kussmauls breathing diabetic ketoacidosis
dermatitis dementia diarrhea
pellagra - niacin(VitB3) deficiency
dilated cardiomyopathy- edema- alcholism or malnutrition
wet. beriberi- thiamin(Vit B1) deficiency
dog or cate bite results in infection
pasteurella multocida- cellulitis @ inoculation site
dry eyes, dry mouth arthritis-
sjorgrens syndrome- Autoimmune destruction of exocrine glands
dysphagia-esophageal webs- glossitis, iron deficiency anemia
plummer-vinsons syndrome- progress to esophageal squamous cell carcinoma
elastic skin- hypermobility of joints
ehlers Danlos syndrome- type 3 collagen defect
enlarged, hard left supraclavicular node
virchows node - abdominal mets
erythroderma- lymphadenopathy- hepatosplenomegaly- atypical T cells
Sezary syndrome- cutaneous T cell lymphoma or mycosis fungiodes
facial muscle spasms on tapping
chvosteks sign- hypocalcemia
fat female forty and fertile
cholelithiasis- gall stones
fever chills HA myalgia following abx tx for syphilis
Jarisch herxheimer rxn- rapid lysis of spirochetes results in toxin release
fever cough conjunctivitis coryza diffuse rash
measles- morbillivirus
fever night sweats weight loss
B symptoms staging of lymphoma
fibrous plaques in soft tissue of penis
peyronies disease- CT disorder.
gout mental retardation, self mutilating behavior in a BOY
Lesch- Nyhan syndrome- HGPRT def, X linked recessiv
green yellow rings around peripheral cornea
kayser fleischer rings- CU accumulation from wilsons disease
Hamartomatous GI polyps hyperpigmentation of mouth feet and hands
peutz jeghers syndrome inherited bening polyposis can cause bowel obstruction and increase in cancer risk mainly GI
Hepatosplenomegaly osteoporosis neurologic symptoms
gauchers disease glucocerebrosidase deficiency
hereditary nephritis sensorineural hearing loss cataracts
alport syndrome- mutation in alpha chain of collagen IV