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OPT Systemic Disease

mucopolysaccharidoses group of inherited disturbances in metabolism of {glycosaminoglycans}; facial and spinal abnormalities, mental retardation -enlarged tongue, gingival hyperplasia, broad/short mandible
lipid reticuloendothelioses disorders of lipid metabolism so lipids accumulate in cells; includes Gaucher disease, Niemann-Pick disease and Tay-Sachs disease
Gaucher disease caused by genetic deficiency of {glucocerebrosidase} resulting in abnormal deposition of {glucosylceramide} in macrophage lysosomes
glucocerebrosidase Gaucher disease caused by deficiency of this enzyme
glucosylceramide deposited in lysosomes of macrophages in Gaucher disease
Type 1 (nonneuronopathic) Gaucher disease accumulation of lipid-filled macrophages in bone marrow, causing anemia, thrombocytopenia and bone pain -{Erlenmeyer flask deformities}- seen radiographically in long bones
Erlenmeyer flask deformities seen radiographically in long bones in Type 1 Gaucher disease
Types 2 and 3 Gaucher disease (neuronopathic) more severe Gaucher disease involving the CNS; don't respond to enzyme replacement or transplant
Niemann-Pick disease due to lack of {sphingomyelinase} resulting in deposition of {sphingomyelin} in lysosomes of macrophages giving them sea blue cytoplasm
spingomyelinase deficiency of this enzyme causes Niemann-Pick disease
Tay Sachs disease due to lack of {beta-hexosaminidase A} causing accumulation of {ganglioside} in the lysosomes of neurons; blindness, seizures, death by 5
beta-hexosaminidase A deficiency in this enzyme causes Tay Sachs disease, causing build up of ganglioside
ganglioside builds up in Tay Sachs disease
lipoid proteinosis deposition of waxy material in dermis and submucosa, causes hoarseness during infancy and childhood and waxy papules -tongue can be bound to the floor of the mouth
jaundice condition due to excess bilirubin in the blood normally taken up by hepatocytes, can be caused by number of diseases ie {autoimmune hemolytic anemia} and {sickle cell anemia}
unconjugated bilirubin shown in lab tests for jaundice in infants
conjugated bilirubin elevated in conditions caused by reduced excretion of bilirubin into the bile ducts ie liver disease and cancer
amyloidosis group of conditions with deposition of extracellular protein material called "amyloid", a starch-like material -organ-limited form and systemic forms
organ-limited amyloidosis amyloidosis in variety of organs but rarely oral tissues; not associated with any systemic condition
systemic amyloidosis amyloidosis further classified into primary, myeloma-associated, secondary, hemodialysis-associated, and heredofamilial types
primary and myeloma associated forms of amyloidosis form of amyloidosis occurring in older patients caused by deposition of Ig light chains
secondary form of amyloidosis form of amyloidosis resulting form long-standing chronic inflammatory diseases ie TB
hemodialysis-associated form of amyloidosis form of amyloidosis seen in patients on longterm dialysis due to accumulation of globins not removed by dialysis
heredofamilial form of amyloidosis rare form of inherited amyloidosis, causing heart and kidney problems aka {famililial Mediterranean fever}
Xanthelasma yellowish plaques on periocular skin, indicating elevated serum lipids and risk of atherosclerosis
Vitamin A necessary for vision and tissue growth; deficiency causes night blindness, keratomalacia, xerostomia, enamel hypoplasia
Vitamin D can be made by sunlight, promotes calcium absorption and regulate phosphorus; deficiency causes {rickets} in kids and {osteomalacia} in adults
Vitamin E functions as antioxidant, deficiency is rare but occurs in liver diseases
Vitamin K necessary for protein synthesis and clotting factors; deficiency leads to impaired clotting and gingival bleeding
thiamin (vitamin B1) coenzyme for metabolic reactions and maintains neurons; deficiency causes {beriberi} and {Wernicke-Korsakoff syndrome} in alcoholics
riboflavin (vitamin B2) necessary for cellular ox-red reductions; deficiency causes atrophic glossitis, angular chelitis, sore throat and swelling of oral mucosa
niacin coenzyme for ox-red reactions; deficiency causes {pellagra} with 3 D's: {dermatitis, dementia, and diarrhea}
pellagra caused by deficiency of niacin; dermatitis, dementia, diarrhea
pyridoxine cofactor for amino acid synthesis; deficiency is very similar to riboflavin
vitamin C needed for collagen synthesis; deficiency causes {scurvy} and {scorbutic gingivitis}
scorbutic gingivitis red, swollen and boggy gingiva caused by deficiency in vitamin C
iron-deficiency anemia most common type of anemia caused by 1. excessive blood loss, 2. increased demand for RBC, 3. decreased iron intake, 4. decreased iron absorption -oral manifestations: angular cheilitis, atrophic glossitis mucosal atrophy -microcytic hypochromic anemia
Plummer-Vinson syndrome iron deficiency anemia with glossitis and dysphagia; spoon-shaped nails and esophageal webbing
pernicious anemia deficiency of vitamin B12 due to inability to absorb it from lack of intrinsic factor ; necessary for normal nucleic acid synthesis, disrupts tissue that turns over rapidly -pts who have had {gastric bypass surgery}, {vegans}, and {H. pylori}
oral signs pernicious anemia atrophic glossitis, focal patchy areas of mucosal atrophy and erythema -macrocytic anemia, confirmed by Schilling test
pituitary dwarfism caused by diminished production of GH or reduced capacity of tissues to respond
gigantism overproduction of GH before epiphyseal plates have closed, causing patients to grow very tall; most caused by functional adenoma of pituitary
acromegaly overproduction of GH after epiphyseal plates have closed, usually due to functional adenoma
hypothyroidism decreased levels of thyroid hormone; {cretinism} in infancy, {myxedema} in adulthood
Hashimoto's thyroiditis autoimmune destruction of the thyroid gland, major cause of primary hypothyroidism in adults
hyperthyroidism condition caused by excessive thyroid hormones, mostly due to {Graves disease}- binding of antibodies to TSH receptors, stimulating excess thyroid hormone -goiter, high metabolic rate, heat intolerance, exophthalmos
thyroid storm uncontrolled hyperthyroidism, can be triggered by infections, physical trauma and stress; delirium, convulsions, tachycardia
hypoparathyroidism reduction in serum PTH; calcium levels drop, hyperventilation, tetany, pitted enamel -Chvosstek's sign- twitching of lip by tapping on facial nerve to exhibit tetany
pseudohypoparathyroidism adequate PTH levels but pathways don't respond; mental retardation, obesity, round face
hyperparathyroidism excessive production of PTH
primary hyperparathyroidism caused by solitary parathyroid adenoma; "stones, bones and abdominal groans"- kidney stones, osteoporosis, and duodenal ulcers
secondary hyperparathyroidism occurs in response to chronic hypocalcemia, usually associated with chronic renal failure
brown tumor of hyperparathyroidism lytic bone lesions occurring with chronic hyperparathyroidism; dark red-brown color -can lead to osteitis fibrosa cystica, identical to central giant cell granuloma in jaws
osteitis fibrosa cystica expanding brown tumors that become fibrotic; due to hyperparathyroidism
hypercortisolism (Cushing syndrome) caused by sustained increase in glucocorticoid levels, most secondary to medications -called {Cushing disease} if caused by pituitary adenoma that secretes ACTH -moon face, buffalo hump, weigh gain, depression
primary Addison disease insufficient production of adrenal corticosteroid hormones caused by destruction of adrenal cortex; can be autoimmune, due to TB and infections -hyperpigmentation, fatigue,
secondary Addison disease caused by decreased ACTH production in pituitary gland; symptoms don't appear until 90% of gland has been destroyed
type I diabetes mellitus caused by lack of insulin production due to autoimmune destruction of beta pancreatic cells -childhood onset, ketoacidosis, glycosuria, requires insulin
type II diabetes mellitus caused by reduction in insulin receptors or prevention of normal glucose uptake; leads to {insulin resistance} despite normal insulin levels -familial component,
hypophosphatasia rare metabolic bone disease caused by deficiency of alkaline phosphatase; bone abnormalities resemble rickets
perinatal lethal form of hypophosphatasia form of hypophosphatasia in which newborns have severe hypo calcification of the skeleton and die within a few hours of birth
odontohypophosphatasia form of hypophosphatasia, only clinical manifestation is premature loss of incisors due to reduction in cementum on root surface
vitamin-D resistant rickets inherited X-linked condition in which patients with rickets do not respond to treatment with vitamin D; hypophosphatasia and decreased ability to absorb phosphate -pointed pulp horns that extend to DEJ so frequent abscesses
vitamin-D dependent rickets deficiency in vitamin D due to lack of 1alpha-hydroxylase; responds to replacement therapy of vitamin D
Crohn disease inflammatory disease of GIT; affects any portion but mostly distal small intestine and proximal large intestine, can have skip lesions -oral manifestations often the first sign of disease: nodules, cobblestone mucosa, and ulcers
pyostomatitis vegetans oral expression of inflammatory bowel disease, usually ulcerative colitis and Crohn disease; yellow, elevated, serpentine pustules on erythematous mucosa, "snail track ulcerations"
uremic stomatitis finding in pts with chronic renal failure probably due to elevated urea and free ammonia; painful white plaques on buccal mucosa, tongue and floor of mouth
Created by: aharnold



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