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27 Cards in this Set
- Front
- Back
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muccopolysaccharidosis
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enzymes missing to process glycosaminoglycans
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Hurler syndrome
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coarse cranial features, joint stiffness, mental retardation, corneal opacification. Macroglossia & gingival hyperplasia
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lipid reticuloendothelioses (lipid storage disease)
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Jewish ancestry
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Gaucher disease
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lack glucocerebrosidase --> glucosylceramide accum in macrophages / monocytes
'wrinkled silk' blue cytoplasm erlenmeyer flask deformaties risk of multiple myeloma |
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Niemann-Pick disease
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def. acid sphingomyelinase --> accum of sphingomyelin in macrophages
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Tay-Sachs disease
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lack hexosaminidase A --> ganglioside accum in neurons
death in infant or survival into adulthood |
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jaundice
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excess bilirubin
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amyloidosis
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complex protein deposition causes organ dysfunction
labial mucosa bx to dx |
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primary amyloidosis
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myeloma associated protein deposition
MC type gingival enlargement, macroglossia, dry mouth |
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secondary amyloidosis
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chronic inflammatory disease associated protein deposition:
*Pindborg tumor (CEOT), AOT, TB, osteomyelitis, sarcoidosis, |
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Dialysis related amyloidosis
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carpal tunnel syndrome, cervial spine pain, macroglossia seen in this protein deposition DO
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hereditary amyloidosis (mediterranean fever)
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swedish, portuguese & japan populations
polyneropathy CHF renal failure |
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vitamin B2 def
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burning, bald tongue, angular cheilitis
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vitamin B3 def.
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3D's diarrhea, dementia, dermatitis
raw, smooth red tongue |
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vitamin c def.
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gingivitis, tooth mobility, severe periodontal loss in this deficiency
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iron def anemia
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atrophic glossitis, burning tongue, mucosal pallor, angular cheilitis
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plummer-vinson syndrome
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severe chronic iron deficiency anemia
glossodynia, angular cheilitis, atrophic glossitis (lingual papilla) dysphagia, esophageal webs malignancy in upper aerodigestive tract |
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pernicious anemia
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schilling test
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acromegaly
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excess growth hormone after closure of epiphyseal plates
2nd to pituitary adenoma bones show renewed growth coarse facial features, hypertrophic SP, prognathism, diastemas, macroglossia |
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hyperthyroidism
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GAGs
thickened lips, macroglossia, delayed eruption facial sweating, husky voice, constipation |
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hyperthyroidism (Grave's disease)
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antibody against TSH receptors
Goiter thyroid storm 'due to stress or infection' |
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hyperparathyroidism
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increased PTH
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primary hyperparathyroidism
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bones, stones, moans, groans
elevated calcium w/ elevated PTH |
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secondary hyperparathyroidism
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renal failure
phosphate = calcium (elevation in one causes compensatory decrease in other) |
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hypophosphatasia
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decreased AP with increased serum phosphoethanolamine
childhood: premature loss of prim teeth adult: decreased cementum (early tooth loss) |
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crohns
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multiple nodules (cobblesotne)
linear-shaped ulcers (granulomatous inflammation) |
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pyostomatitis
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papillary folds & grooves--.> 'pebbly'
'snail tract lesions' - multiple yellow pustules on edematous erythema linear pattern |
