Term
| Etiology of Crohns disease |
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Definition
| Immune-mediated disease, Chronic granulomatous inflammation |
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Term
| Clinical of Crohns disease |
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Definition
| Starts as teenager, GI - cramping/pain, nausea, diarrhea +/- blood; weight loss +/- growth retardation; lesions dev anywhere along GI tract (mouth to anus); anemia |
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Term
| Oral cavity of Crohns disease |
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Definition
| Linear ulcerations of vestibule, cobblestone appearance of mucosa, patchy erythematous plaques of gingiva, fibrous hyperplasia |
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Term
| Management of pts w/ suspected oral lesions |
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Definition
| Ask patient about GI symptoms, biopsy, oral manifestations may precede GI symptoms in 30% |
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Term
| Definition of pyostomatitis vegetans |
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Definition
| Inflammatory disorder of mucous membranes, underlying inflammatory bowel Dx, characterized by yellowish linear serpentine pustules ("snail-track") - BM, soft palate, ventral tongue |
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Term
| Etiology of pyostomatitis vegetans |
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Definition
| Inflammatory bowel dx (IBD); esp. ulcerative colitis, also crohn's dx; uncommon |
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Term
| Treatment of pyostomatitis vegetans |
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Definition
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Term
| Definition of uremic stomatitis |
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Definition
| Uncommon oral manifestation of acute or chronic renal failure |
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Term
| Clinical of uremic stomatitis |
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Definition
| Esp. acute renal failure, abrupt onset of white plaques - BM, tonuge, FOM; mimics OHL, painful |
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Term
| Etiology of hypophosphatasia |
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Definition
| rare inherited metabolic bone disease, defects in gene encoding "tissue non-specific alkaline phosphatase" |
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Term
| Clinical of hypophosphatasia |
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Definition
| Multiple subtypes varying severity; early manifestations = poorer prognosis (lethal to mild); bones and tooth mineralization affected; bones resembles Rickets (shortened, bowed limbs) |
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Term
| Clinical oral manifestations of hypophosphatasia |
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Definition
| 1st presenting sign = premature loss of primary teeth; one of main causes of premature tooth loss in primary dentition (lack of cementum); +/- enlarged pulp chambers, +/- deficient root formation; +/- permanent teeth affected; "beaton copper" appearance to skull on radiographs (decreased cortical thicknes, gyral impressions, due to increased intracranial pressure) |
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Term
| diagnosis & treatment of hypophosphatasia |
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Definition
| Decreased ALP, other (increased pyridoxal, 5'-phosphate); supportive |
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Term
| Etiology of Vitamin D Resistant Rickets |
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Definition
| Rare inherited metabolic bone disease; defects in zinc metalloproteinase gene "PHEX" on X chromosome (--> more men affected) |
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Term
| Clinical of Vitamin D resistant rickets |
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Definition
Bone and tooth mineralization affected, lower limbs resemebls Rickets; large pulp chambers; pulp horns extend to DEJ; increased likelihood of pulpal necrosis
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Term
| Treatment of Vitamin D Resistant Rickets |
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Definition
| Calcitriol (active form of Vitamin D); phosphate, early tx= prevent short stature |
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Term
| Lysosomal storage diseases etiology |
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Definition
| Group of primarily autosomal recessive condition; deficiences of enzymes involved in intermediary metabolism; enzymes required for metabolism of lipids, glycoproteins, mucopolysaccharides; excess metabolites end up stored in lysozymes (swollen, vacuolated cells) |
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Term
| Lysosomal storage disease subclassifications |
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Definition
| Lipid reticuloendothelioses/lipidoses = Tay-Sachs, Gaucher; Niemann-Pick; Glycogenoses = Pompe; Mucopolysaccharides = Hurler, Hunter |
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Term
| Common clinical features of lysosomal storage diseases |
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Definition
| Facial dysmorphisms (coarse facies, macroglossia); bony abnormalities, cardiac involvement, hepatosplenomegaly, ophthalmic (corneal clouding); neurological features (developmental delay, hypotonia, epilepsy, peripheral neuropathy, intellectual disability, ataxia, and/or splasticity) |
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Term
| Etiology of gaucher's disease |
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Definition
| Gene mutation in glucocerebrosidase defect; auto recessive; result = accumulation of swollen lysozymes in macrophages |
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Term
| Clinical features of Gaucher's disease |
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Definition
| Related to accumulation of swollen lysozymes in macrophages, enlargement of liver and spleen, anemia, reduced platelets, bone infarctions, bone pain, radiolucent lesions of bone |
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Term
| Etiology of Hurler Syndrome = AKA Gargoylism |
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Definition
| Genetic defect gene for alpha-L-iduronidase |
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Term
| Clinical features of Hurler Syndrome |
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Definition
| Intermediate grade of severity, evident by age 2, die by age 25 due to cardiopulmonary disease, short stature, hepatosplenomegaly, corneal clouding, dental - gingival hyperplasia, impacted teeth, altered tooth morphology |
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Term
| Etiology of lipoid proteinosis |
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Definition
| Rare inherited condition, defect in gene for ECM1; deposition of waxy material in dermis and submucosal CT |
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Term
| Clinical features of lipoid proteinosis |
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Definition
| Any organ potentially affected, laryngeal mucosa/vocal cords (vocalization problems); skin - thickened, yellowish, waxy papules/plaques/nodules; affects face, particularly lips + margins of eyelids |
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Term
| Oral clinical of lipoid proteinosis |
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Definition
| Tongue, labial, mucosa, BM=nodular, enlarged, thickend; dorsal tongue papillae destroyed, develops a smooth surface; tongue may become bound to FOM |
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Term
| Treatment & Prognosis of lipoid proteinosis |
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Definition
| Palliative and normal lifespan |
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Term
| Etiology of plasminogen deficiency = AKA ligneous conjunctivitis |
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Definition
| auto recessive inherited condition; defect in gene plasminogen; result = collection of fibrin deposits; esp. mucosal surfaces |
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Term
| Clinical of plasminogen deficiency |
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Definition
| thick yellow to erythematous nodules on mucosa: upper eyelid conjunctiva, oral mucosa, laryngeal mucosa, vaginal mucosa |
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Term
| Diagnosis of plasminogen deficiency |
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Definition
| Biopsy gingival tissue confirm fibrin deposition, r/o amyloid/lipid/other; lab = low serum plasminogen activity |
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Term
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Definition
| Excess serum bilirubin (=breakdown product of hemoglobin)' normally glucuronic acid added to bilirubin ("conjugated bilirubin") in liver so that it can be excreted in bile via gallbladder; pathologic states - increased breakdown of RBCs, impaired metabolism of bilirubin by liver; decreased release by gallbladder |
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Term
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Definition
| Yellow discoloration of skin and mucosa, elastin fibers have high affinity for bilirubin, jaundice more evident in tissues w/ high elastin (sclera, lingual frenum, soft palate) |
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Term
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Definition
| Diverse group of conditions characterized by abnormal accumulation of proteinaceous material that pathologists used to think was "starch-like"; now recgonized amyloidosis can be caused by several conditions in which excess protein of diff origin is deposited in CT; all have same beta-sheeted secondary molecular structure |
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Term
| Histopathology of amyloidosis |
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Definition
| Amorphous eosinophilic in CT; amyloid protein identified by special staining techniques |
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Term
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Definition
Primary and myeloma assoc w/ amyloidosis - most common, 80% idiopathic (no underlying multiple myeloma); 20% multiple meyloma pts; Ig light chains accumulation in organs throughout the body - kidneys, heart, peripheral nervous system, GI tract, blood, lungs & skin; secondary - chronic infection or inflamm disease (sarcoidosis, RA, Crohns...); hereditary - rare; hemodialysis associated
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Term
| Clinical features of amyloidosis |
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Definition
| Early symptoms nonspeficic (malaise, fatigue, carpal tunnel); deposition around organs - skin plaques (esp. eyelid, lips); dry eyes/mouth (destruction of lacrimal/salivary glands); kidney, liver, adrenal, heart, nerves (neuropathies), tongue (nodules, macroglossia) |
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Term
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Definition
| Condition marked by bleeding under skin (purpura) in some pts w/ amyloidosis; coagulation defects secondary to amyloid induced vascular damage +/- binding of amyloid to clotting factors |
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Term
| Prognosis and treatment of amyloidosis |
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Definition
| Depends on underlying dx process and extent of organ involvement; identify source of amyloid r/o MM etc.. |
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Term
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Definition
| Ocular effects - blindness as infant; reduced night vision |
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Term
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Definition
| beriberi, cardiovascular and neuropathies |
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Term
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Definition
| Glossitis, angular cheilitis, "stomatitis" |
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Term
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Definition
| Pellagra; 3 D's - dementia, dermatitis, diarrhea, "stomatitis, cheilits & glossitis", red tongue |
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Term
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Definition
| stomatitis, cheilitis, and glossitis |
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Term
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Definition
| Scurvy, reduced healing, scorbutic gingivitis = gingival swelling, ulceration, bone loss, hemorrhage |
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Term
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Definition
| Children = rickets; adults=osteomalacia, result = bone weakness; bowing of lower limbs |
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Term
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Definition
| pts w/ malabsorption of fat soluble vitamins; result = CNS and peripheral nervous system manifestations |
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Term
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Definition
| Intestinal malabsorption syndromes; long-term antibiotic Tx leading to elimination of gut flora; result = coagulation/clotting defects |
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