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

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