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PresentationDiagnosis/DiseaseBonus Info
vomitting blood following gastroesophagela lacerationsAlcoholics, bulemics
Cough, Coryza, Conjunctivitis, fever, diffuse rashCaused by morbillivirus
mucosal bleeding, prolonged bleeding timedefect in platelet aggregation due to lack of GpIIb/IIIa
conjugate lateral gase palsy, horizontal diplopiaDamaged MLF, if bilateral dx MS, unilateral look for stroke
child uses arms to stand up from squatDMD
hamartomatous GI polyps, hyperpigmented mouth/feet/handsinherited benign polyposis, can lead to bowel obstruction, increased cancer risk but mainly GI
dog/cat bite leading to infectionPasteurella Multocida has cellulitis at innoculation site
Cherry Red Spot on maculaTay sachs- ganglioside accumulation. Neimann Pick (sphingomyelin), OR even central retinal artery occlusion
arachynodactyly, lens dislocation, aortic dissection, hyperflexible jointsDefect in Fibrillin
hereditary nephritis, sensorineural hearing loss, cataractsmutation in alpha chain of type 4 collagen
Blue Scleratype 1 collagen defect
dysphagia (esophageal webs), glossitis, iron deficiency anemiaCan proceed to esophageal SCC
dermatitis, dementia, diarrhea (death)Niacin deficiency (B3)
periorbital/peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemiacheck 24 hour protein excretion
butterfly facial rash, raynaud's phenomenon, young femaleLUPUS! Malar rash, and pretty much whatever
elastic skin, hypermobile jointsType 3 collagen defect
indurated, ulcerated genital lesion: PAINFULExudative, secondary to Chancroid caused by Haemophilus Ducrei
thyroid tumors, pheochromocytoma, ganglioneuromatosisautosomal dominant ret mutation
lo lactation postpartum, absent menstruation, cold intolerancepituitary infarction
Neonate, arm paralysis following difficult birthErb Duchenne palsy from superior trunk C5-C6 brachial plexus injury ('waiter's tip')
Child with fever later gets red rash on face spreads to body'Fifth disease'/erythema infectiousum. 'slapped cheeks'
fever greater than 5 days, strawberry tongue, cervical LAD, nonexudative conjunctivitis, sterile pyuria
abdominal pain, ascites, hepatomegalyposthepatic venous thrombosis
sudden swollen painful big toe joint, tophipodagra, hyperuricemia
polyuria, RTA type 2, growth failure, electrolyte imbalances, hypophosphatemic ricketsproximal tubular rebasorption defect
positive anterior drawer signanterior cruciate ligament
swollen gums, mucosal bleeding, poor wound healing, spots on skinvit C deficiency, can't hydroxyate proline/lysine for collagen synthesis
thyroid and parathyroid tumors, pheoautosomal dominant ret mutation
single palmar creaseDOWN'S
fever, chills, headache, myalgia following antibiotic tx for symphilissecondary to rapid lysis of spirochetes leading to toxin release
painless, erythematous lesions on palms/solesinfective endocarditis, septic emboli, microabscesses
large bulls eye rashLyme disease, borrelia burgdoreri. Remember it's the Ixodes tick bite
hypoxemia, polycythemia, hypercapniaChronic bronchitis from hyperplasia of mucous cells, COPD
painful red raised lesions on pads of fingers/toesinfective endocarditis, immune complex deposition
multiple colon polyps, osteomas, soft tisssue tumors, impacted/supernumerary teethsubtype of FAP
strawberry tongueOr Kawasaki, toxic shock syndrome
chorea, dementia, degeneration of caudate nucleusautosomal dominant CAG repeat expansion
swollen, hard painful finger jointsPIP osteophytes are Bouchard's, DIP are Heberden's
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerancelysosomal alpha 1,4-glucosidase deficiency
dark purple skin/mouth nodulesThink AIDS patients, associated with HHV8
PresentationDiagnosis/DiseaseBonus Info
red currant jelly stool- INFANT
Dilated cardiomyopathy, edema, alcohol/malnutritionthiamine B1 deficiency
splinter hemorrhages in fingernails
deep labored breathing/hyperventialtionDKA
situs inversus, chronic sinusitis, bronchiectasis, infertilitydynein arm defect affecting cilia
Achilles tendon xanthomasecondary to decreased LDL receptor signaling
pupil accomodates but doesn't reactneurosyphillis
'worst headache of my life' thunderclap headacheCT, if negative do LP to look for blood
Fever, night sweats, weight loss'B symptoms' of lymphoma
vascular birthmark ('port wine stain')benign hemangioma on own, but don't forget it's association!
buish line on gingivalead poisoning
erythroderma, Lymphadenopathy, HSM, atypical T cellsCutaneous T cell lymphoma. Could be also mycosis fungoides
elarged, hard left supraclavicular nodeabdominal metastasis
unilateral facial drooping involving forheadLOWER MN CN7 palsy
Infant with microcephaly, rocker-bottom feet, clenched hands, structural heart defectTrisomy 18
red currant jelly sputum in alcoholics/diabeticslook for aspiration pneumo/abscesses
male child, recurrent bacterial infections, no mature B cellsX-linked agammaglobulinemia aka Bruton's disease
cutaneous/dermal edema from connective tissue depositionthink autoimmune thyroid dysfunction, especially if pretibial
indurated, ulcerated genital lesion: NOT PAINFULPrimary form, secondary to treponema pallidum
hyperphagia, hypersexualtiy, hyperorality, hyperdocilitysyndrome secondary to bilateral amygdala lesion
hyporeflexia, hypotonia, atrophy, fasciculationslower motor neuron damage
lucid interval after traumatic brain injuryMMA rupture
infant with cleft lip/palate, microcephaly, holoprosencephaly, polydactyly, cutis aplasiaTrisomy 13
pruritic purple polygonal planar papules and plaques6 P's
resting tremor, rigidity, akinesia, postural instability, mask faciesnigrostriatal dopamine depletion
Adrenal hemorrhage, hypotension, DICmeningococcemia
bounding pulses, diastolic murmur, head bobbing
muffled heart sounds, distended neck veins, hypotension'Beck's Triad'
ptosis, miosis, anhidrosissympathetic chain lesion
systolic crescendo decrescendo ejection murmurradiates to carotids!
hyperreflexia, hypertonia, babinski positiveupper motor neuron damage
short stature, increased tumors/leukemias, aplastic anemiagenetic loss of DNA crosslink repair, look for AML
Calf Pseudohypertrophyx-linked rkecessive deletion of dystrophin gene
weight loss, diarrhea, arthritis, fever, adenopathysecondary to Tropheryma whipplei
red itchy swollen areola/nipplelook for underlying carcinoma
smooth, flat, moist, painless white lesions on genitalssecondary syphilis
chest pain on exertionstable with moderate/high exertion, unstable with minimal exertion
Severe RLQ with reboundappendicitis
retinal hemorrhages with pale centersbacterial endocarditis
streak ovaries, gongenital heart disease, horseshoe kidney, cystic hygroma at birth, short stature, webbed neck, lymphedemamonosomy X
PresentationDiagnosis/DiseaseBonus Info
continuous machinery heart murmurclsoe with indomethacin, keep open with PGE/misoprostol
fibrous plaques in soft tissue of penisConnective tissue disorder
rash on palms and solesHand foot mouth OR secondary syphilis, RMSF
chronic exercise intolerance, with myalgia, fatigue, painful cramps, myoglobinuriaMuscle glycogen Phosphorylase Deficiency
Painless jaundicehead of pancreas tumor blocking bile duct
red urine in morning, fragile RBCs
HSM, osteoporosis, neuro symptomsGlucocerebrosidase deficiency
severe RLQ pain with palpation LLQAccute Appendicitis
Jaundice, palpable distended but nontender gallbladderDistal obstruction of biliary tree, most classically secondary to tumor in head of pancreas
rapidly progressive ascending leg weakness post GI or upper respiratory infectionacute autoimmune inflammatory demyelinating polyneuropathy
Urethritis, conjunctivitis, arthritis in a maleoften associated with HLA-B27
infant with hypoglycemia, FTT, hepatomegalydebranching enzyme deficiency
bone pain, bone enlargement, arthritisOF BONE. Secondary to increased osteoblastic and osteoclastic activity
small, irregular red spots on buccal/lingual mucosa with blue-white centersmeasles, rubeola
Athlete with polycythemiaWho knew! Apparently this is a thing.
bilateral Renal Cell Carcinoma, hemangioblastomas, angiomatosis, pheochromocytomadominant tumor suppresssor gene mutation
nystagmus, intention tremor, scanning speech, bilateral INOMultiple lesions separated by both time and space
Infant with FTT, HSM, neurodegenerationgenetic sphingomyelinase deficiency
Cold intolerancelook too for dry skin, weight gain, etc.
green-yellow rings around peripheral corenacopper buildup from WILSON'S DISEASE
gout, MR, self-mutilationHGPRT deficiency, x-linked recessive
pancreatic, pituitary, parathyroid tumorsAutosomal dominant
chest pain, pericardial effusion/friction rub, persistent fever POST MI 1-2 weeksautoimmune mediated post-MI fibrinous pericarditis
slow progressive muscle weakness in boysxlinked missense mutation in dystrophin, less severe than DMD
pink complexion, dyspnea, hyperventilationemphysema. If it's centriacinar go with smoking, panacinar go with alpha1antitrypsin deficiency
red currant jelly stool- ADULT
café-au-lait spots, lisch nodules (iris hamartomas)Type 1!!! Can also produce pheochromocytomas, optic gliomas
bilateral hilar adenopathy, uveitisNoncaseating granulomas.
painful blue fingers/toes, hemolytic anemiaautoimmune hemolytic anemia secondary to mycoplasma or infectious mono
oscillating slow/fast breathingSecondary to central increase in antracranial pressure, or central apnea in CHF
skin hyperpigmentation, hypotension, fatigueprimary adrenocortical insufficiency causes increased ACTH and increased alpha-MSH production
 
palpable purpura on buttocks/legs, joint pain, abdominal pain (kid), hematuriaIgA vasculitis mostly affecting skin/kidneys
facial muscle spasm on tappinghypocalcemia
recurrent colds, unusual eczema, high serum IgEHyper IgE syndrome, neutrophil chemotaxis abnormality
severe jaundice in neonatecongenital unconjugated hyperbilirubinemia
Female, fat, forty, fertilegallstones
painful, pale cold fingers/toesraynaud's phenomenon (vasospasm in extremities)
café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalitiesmosaic G prptein signaling mutation
back pain, fever, night sweats, weight lossTuberculosis spread to the vertebra

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