Final Exam Study Guide PDF

SOAP NOTE *Lymphoid Hyperplasia ● Reactive proliferation of lymphoid tissue ● H&N: lymph nodes, Weldeyer’s, lymphoid tissue oropharynx, soft palate, lateral tongue, FOM ● Oral lesions primarily involve lateral border of tongue and FOM ● Tonsillar asymmetry is worrisome and needs further evaluation...

SOAP NOTE *Lymphoid Hyperplasia ● Reactive proliferation of lymphoid tissue ● H&N: lymph nodes, Weldeyer’s, lymphoid tissue oropharynx, soft palate, lateral tongue, FOM ● Oral lesions primarily involve lateral border of tongue and FOM ● Tonsillar asymmetry is worrisome and needs further evaluation Cervical Lymphadenopathy o Size: larger = more worrisome o Pain or tenderness: intermittent = reactive/infectious process o Consistency (hard or rubbery): more worrisome o Matting (movable): cancerous not as movable o Location *Hemophilia (difficulty forming clots) ● Uncommon group of bleeding disorders resulting in blood not clotting normally ● Factor Deficiency = A: VIII, B: IX, C: XI ● Oral manifestations: lacerations and ecchymoses ● Hemophilia A, B, C are X-linked recessive disorders o Males more commonly affected ● Intrinsic pathway coagulation defect (↑PTT) *Plasminogen Deficiency (Type I) ● Rare, autosomal recessive disorder caused by plasminogen mutation ● Ocular mucosa of the upper eyelid most common (ligneous conjunctivitis) ● Oral lesions primarily involve gingiva ● Deposits of fibrin resemble amyloid, verified with Fraser-Lendrum histochemical staining (does not have congo red stain) *Anemia ● General term for when blood doesn’t have enough red blood cells/hemoglobin ● Causes: hemoglobinopathies, decreased production of erythrocytes, or an increased destruction/loss of erythrocytes ● Sign of underlying diseases such as: renal failure, liver disease, chronic inflammatory conditions, malignancies, vitamin or mineral deficiencies ● Types pf anemia o Iron metabolism: iron deficiency, Plummer-vinson anemia ▪ Plummer-vinson anemia increased risk H&N cancer (squamous cell carcinoma) o Megaloblastic: cobalamin (B12) deficiency, pernicious anemia, FA deficiency ▪ B12 can lead to neurological symptoms ● Oral manifestations: smooth/burning/beefy tongue, atrophic glossitis, angular cheilosis *Sickle Cell Anemia ● Inheritable (autosomal recessive) hemoglobinopathy that results in production of structurally abnormal hemoglobin ● Mutational substitution of thymine for adenine in DNA results in a valine rather than glutamic acid in B-globin chain ● Deoxygenated state of hemoglobin is prone to aggregation and polymerization ● Genes for hemoglobin synthesis are codominant ● Carrier has sickle cell trait, about ½ of their hemoglobin will be abnormal ● Patient with 2 abnormal alleles has sickle cell disease o **difference trait has 1 and disease has 2 ● 1/400 African Americans in USA ● Children diagnosed with SCD are given continuous prophylactic penicillin until 5 ● “Hair-on-end” appearance ● Histology: erythrocytes resemble sickle or boomerang o More fragile, lasting only 12-16 days *Aplastic Anemia ● Rare, life threatening hematologic disorder characterized by failure of hematopoietic precursor cells to produce adequate blood cells ● Some cases may represent an immune related process: cytotoxic T-cell destruction ● Environmental factors, drugs, viral infections trigger aplastic anemia ● Fanconi anemia and dyskeratosis congenita associated with increased risk ● Pancytopenia: <500 granulocytes/μl, <20000 platelets/μl and reticulocytes/μl ● Oral manifestations include oral ulcerations, infections *Cyclic Neutropenia ● Rare hematologic disorder, High and low levels of neutrophils ● May be acquired or inherited o Inherited cases tend to be autosomal dominant & caused by mutation in neutrophil elastase (ELANE or ELA2) gene ● Oral manifestations: chronic ulcers, periodontits (generalized) ● Absolute neutrophil count <200/μl during periods of neutropenia with at least 3 recurrent cycles *Polycythemia Vera ● Chronic myeloproliferative disorder; panmyelosis, red cell predominance ● Polycythemia = increase in red blood cells mass ● Primary polycytehmia: increase in red blood cells due to intrinsic abnormality o Often associated with JAK2 mutation (95% of pts) ● Secondary: increase in red blood cells due to increase in erythropoietin ● Survival is long (9-14 years) ● Most patients due of thrombosis/hemorrhage ● 2-10% patients develop acute leukemia *Leukemia ● Unregulated growth and differentiation of leukocytes in bone marrow ● Types: Lymphoid and Myeloid neoplasms ● Hematologic malignancy that begins in bone marrow ● Myeloid vs. lymphoid; Acute vs chronic ● All forms 13/100,000 ● CML: characterized BCR-ABL gene translocation, defined by Philadelphia chromosome ● AML: M3 subtype responds to all-trans retinoic acid ● ALL = Most common pediatric cancer, <15 years ● SLL/CLL = Most common adult leukemia ● Oral manifestations: diffuse, hemorrhagic gingival involvement, myeloid sarcoma *Hodgkin Lymphoma ● Malignant disorder of lymphoid cells characterized by Reed Sternberg (R-S) cells ● Most commonly presents in cervical and supraclavicular LNs (70-75%) ● Bimodal distribution: one peak from 20-30 years and another peak in 50s ● R-S cells make up a small fraction of tumor population ● CD15+, CD30+, B-lymphocyte origin ● Reed-Sternberg cells (CD30+, CD15+, B-cell origin) ● Extremely rare in oral cavity, but common in H&N *Non-Hodgkin Lymphoma ● Diverse and complex group of hematologic malignancies ● Numerous subtypes: large groupings = B-cell, T-cell/NK-cell neoplasms (Majority B-cell derived) ● 70,000 cases diagnosed in USA annually ● Diffuse large B cell lymphoma most common type of in oral cavity ● USA: 20-40% develop in extranodal sites ● Oral cases most often present as extranodal disease, may develop in soft tissues or jaws o Most cases, palate is most common site for intraoral extranodal NHL ● Patients with Sjogren & Miculicz syndrome (IG4) have increased risk of developing NHL *Burkitt Lymphoma ● High grade B-cell lymphoma characterized by CD10+ and c-MYC translocation ● 3 clinical forms: endemic, sporadic, immunodeficiency-associated o Sporadic: 30% EBV+, 30% of childhood lymphomas, visceral organ involvement o Endemic: 95% EBV+, jaw involvement common ● Jaw lesions more common in endemic form; maxilla> mandible ● No single parameter alone can be used to diagnose, combo of techniques is required ● Histology: Interspersed tangible body macrophages; “Starry sky” appearance; Ki67/MIB1 (almost 100%): fastest growing tumor *Extranodal NK/T-Cell Lymphoma ● Extranodal hematologic malignancy of NK/T-cells with universal association with EBV ● Primarily affects men; disease of adults (50s) ● Destruction of midface with nasal involvement, palatal destruction/perforation, and/or orbital swelling is common, necrosis of tissue and secondary infection common ● Positive EBV in situ hybridization seen 95% cases, EBV presence necessary for diagnosis ● Histology: angiocentric pattern = atypical lymphocytes infiltrate blood vessels o Attempt to confirm T-cell or NL immunophenotype, EBV positivity *Langerhans Cells Histiocytosis ● Neoplastic proliferation of Langerhans cells ● Rare tumor, 5 cases per million population ● Peak incidence is 3-5 years, slight male predominance ● H&N involvement in 60-80% of cases ● Patients without high-risk organ involvement have mortality rate <10% ● Punched out lytic lesions, CD1a, coffee bean nuclei ● IHC now used: S-100, CD1a, CD207 (langerin) ● Birbeck granules: Tennis racket/ rod shaped organelles found in Langerhans cells on EM ● Jaws involved in 10-20% of cases; floating teeth of left mandible *Plasma Cell (Multiple) Myeloma ● Multiple Myeloma CRAB findings o C: hypercalcemia (lytic bone lesions) o R: renal involvement (light chains deposition) o A: anemia o B: bone lytic lesions/back pain ● Multifocal, bone marrow-based plasma cell neoplasm associated with M protein in serum/urine ● Common, 1% of all malignancies ● If metastatic disease excluded, MM >50% of bone malignancies ● US, MM 2x more common in black than white persons ● Bone pain, weakness, recurrent infections, renal failure, hypercalcemia, anemia *Amyloidosis ● Acellular, amorphous, and eosinophilic material ● Heterogenous group of conditions characterized by deposition of acellular extracellular protein ● B-pleated sheet molecular configuration ● Congo red staining method is considered the “gold standard” for diagnosis o Apple green birefringence under polarized light ● Need to determine type of amyloidosis present ● Xanthelasma may resemble amyloidosis *Uremic Stomatitis ● Relatively uncommon complication of renal failure ● Cause of oral lesions is unknown, may be due to microflora (urease) producing ammonia ● Oral lesions most common on buccal mucosa, tongue, FOM ● Lesions may be painful, Patients may complain of altered taste, burning, or halitosis *Hyperparathyroidism ● Condition where 1 or more of parathyroid glands secrete too much PTH ● PTH helps regulate amount of calcium in blood ● Primary: Enlargement of 1 or more parathyroid glands results in ↑PTH ● Secondary: Disease causes low levels of calcium (renal failure) resulting in ↑PTH ● Can lead to Osteoporosis, kidney stones, bone and joint pain, nausea ● Bone lesion called “brown tumors” resemble central giant cell granulomas *Cowden Syndrome ● PTEN mutation, multiple oral papillomatous papules ● Multiple noncancerous, tumor-like growths and an increased risk of cancer ● Almost all people with CS develop hamartomas commonly in mouth and nose (and GI) ● Increased risk of cancer (lifetime risk) o Patient often develop cancer at early ages, before 50 o Breast (85%), thyroid (35%), endometrium (28%), kidney, melanoma ● Macrocephaly ● Multiple trichilemmomata seen in majority of patients *Pyostomatitis Vegetans and Oral Ulcers ● May represent oral expression of inflammatory bowel disease (most often ulcerative colitis, but also Crohn Disease) ● Rare pustular eruption of mouth ● Pustules (micro abscesses) rupture and form shallow ulcerations ● Other oral manifestations: swelling & thickening, cobblestone, growths ● Snail track ulcerations, biopsy should be done to rule out other erosive conditions *Addison Disease ● Deficiency of aldosterone & cortisol production from adrenal glands o Due to loss of glan function ● Hypotension, metabolic acidosis, and hyperpigmentation of skin and/or mucosa ● Hyperpigmentation seen in primary adrenal insufficiency ● Most cases in western world are due to autoimmunity ● Hyperpigmentation due to MSH, byproduct of ↑ACTH production from pro-opiomelanocortin *Peutz-Jeghers Syndrome ● AD condition (STK11) characterized by hamartomatous polyps in GI and increased risk of cancer ● Children develop small dark macules on lips, inside of mouth, near eyes and nostrils, & anus ● Spots can also occur on hands and feet ● Increased cancer risk, lifetime risk as high as 93% ● ~1/2 of patients undergo surgery by age 18 bc of polyps-related complication *Lipoid Proteinosis ● ECM1 gene; Autosomal recessive ● Deposition of waxy material in dermis and submucosal tissue ● Larynx and vocal cords are most common affected sites *Acromegaly ● Excess growth hormone in adults ● Typically caused by pituitary adenoma ● Deep voice, coarse facial features, large hands and feet, impaired glucose tolerance, increased risk of colorectal polyps and cancer ● Oral manifestations: prognathism, macroglossia, increased spacing between teeth ● Diagnosis: imaging, insulin-like growth factor-1 (IGF-1), Oral glucose tolerance test (OGTT) ● Treatment: surgery, Octreotide, Pegvisomant *Scurvy ● Diagnosis: plasma levels, leukocyte levels, urinary levels after ascorbic acid tolerance test, radiographic changes ● Deficiency of vitamin C: leads to inadequate collagen synthesis ● In US, usually limited to people whose diets lack fresh fruits and vegetables ● Inter-city infants/children and older men who live alone are most commonly affected ● Gingival swelling and spontaneous hemorrhage: scorbutic gingivitis *Chron Disease ● Transmural granulomatous disease affecting any portion of GI tract but discontinuous ● Noncaseating granulomas (Th1 mediated) ● Tx: corticosteroids, immune modulators ● Oral manifestations: linear ulcerations, cobblestone appearance, aphthous ulcerations, erythema Dentigerous Cyst ● Attached to CEJ on unerupted tooth and envelops crown ● *Eruption cyst is a soft tissue variant ● Occurs across wide age range (10-30 y.o) ● Cysts may become large and expansile/ secondarily infected (tx = removal) ● 75% cases associated with unerupted mandibular 3rd molars Odontogenic Keratocyst ● Thin, regular lining of SSE with parakeratin ● Account for 10-20% of odontogenic cysts; 80% cases found in mandible ● Occurs across wide age range, 5% cases associated with NBCCS ● Associated with mutation or inactivation of PTCH1 gene ● Uniocular or Multilocular ● Typically grow in a posterior anterior direction with little swelling ● May be expansile, can have peripheral component Ameloblastoma ● Benign epithelial odontogenic neoplasm, expansion and progressive growth ● Most common odontogenic tumor (excluding odontomas); Arises from dental lamina ● 80% cases found in mandible, posterior region ● 90% have mutations to MAPK pathway Odontoma ● Mixed epithelial and mesenchymal hamartoma of dental hard and soft tissue ● Most common odontogenic tumor, diagnosed in first 2 decades of life ● Removed by conservative surgery; prognosis is excellent ● Subtypes: compound and complex o Compound: Cluster of tooth structures, radiographs diagnostic, ant. Maxilla o Complex: Disorganized mass of calcified material; confused with other calcified lesions; most often in posterior maxilla then anterior maxilla Nasopalatine Duct Cyst ● Occurs when epithelial remnants of nasopalatine duct entrapped in lines of fusion of palatal bones during development ● Often between roots of maxillary central incisors ● Radiographically: lesion appears as well-defined tear drop/heart shaped radiolucency, low density ● Most common non-odontogenic cyst of oral cavity ● Cyst lined by cuboidal pseudostratified ciliated columnar epithelium ● TX: surgical enucleation Mucocele (Mucus extravasation phenomenon) ● Results from rupture of salivary duct and spillage of mucin into CT ● NOT true cyst because it lacks epithelial lining ● Children and young adults, Lower lip, Most often due to injury (trauma o *Upper lip not mucocele (SG entities, soft tissue lesions) ● Surgical excision, should also remove feeding minor salivary gland to limit recurrence ● Most patients have history of recurrent swelling ● Histology: spilled mucin surrounded by granulation tissue; inflammation with foamy histiocytes o Walled off by macrophages and CT Fibroma** ● Most common “tumor” (soft tissue lesion) of oral cavity o Some may represent fibrous maturation(scarring) of pyogenic granuloma ● Reactive proliferation of submucosal fibrous tissue covered by benign epithelium ● Most common location: buccal mucosa adj. to teeth (biting trauma) o Followed by gingiva, lips and tongue ● Slight female, adults, ages 20-59 ● Histology: nodular mass of fibrous connective tissue; Dense collagen Pyogenic Granuloma** ● Exuberant soft tissue response that resembles granulation tissue & blood vessels ● 75-85% occur on gingiva, other oral sites less common ● Generally caused by irritation or trauma or inflammation ● Poorly named: Not caused by pyogenic bacteria, not a true granuloma ● Common in children/young adults, common in pregnant women, can arise in extraction sockets o May develop during pregnancy (pregnancy tumor or granuloma gravidarum) o Epulis Granulomatosa: Nodular mass of granulation tissue from an extraction socket Peripheral Giant Cell granuloma** ● Reactive localized proliferation of mononuclear and osteoclast type giant cells in vascular stroma (outside of bone); Occurs on gingiva and alveolar mucosa ● Etiology: irritation of mucoperiosteum or PDL ● Check for intraosseous involvement, primarily gingival lesion Peripheral Ossifying Fibroma** ● Reactive soft tissue lesion of gingiva with mineralized products ● Mineralized products: bone, cementum-like, or dystrophic calcifications ● Max>mand, F>M, more common in ant. Gingiva ● Modest recurrent rate, not a soft tissue counterpart to cemento-ossifying fibroma Oral papilloma o Benign HP related papillary gross of tissue o Will not turn into cancer Squamous Cell Papilloma** ● HPV 6,11 ● Benign, localized hyperplastic epithelial proliferation, Verrucous or Cauliflower like ● Common sites: soft palate, tongue, lips, gingiva ● Immunocompromised = multiple papillomas ● Treatment = simple excision (No reports of malignant transformation/dissemination) Sialadenoma Papilliferum ● Exophytic papillary lesion; inward papillary proliferation of mucosal & salivary duct epithelium ● Rare; primarily affects adults ● Hard palate & buccal mucosa most common sites; parotid gland rarely reported ● Resembles squamous papilloma clinically o * Salivary Duct tumor that looks like papilloma ● Surface has papillary projections & submucosa has ductal like structures Ductal Papillomas ● Proliferation of ductal epithelium along salivary duct systems ● Looks papillary but is proliferation inside ducts ● Rare; etiology unknown (may be associated with chewing trauma or HPV) ● Oral mucosal minor salivary glands most common sites; lower lip, buccal mucosa, floor of mouth, palate, tongue (rarely occurs in major SGs) ● Complete excision is curative; no reported cases of malignant transformation ● Oral inverted ductal papilloma: not related to HPV o In epithelium can see mucus cells 🡪 helps distinguish from surface epithelium that lacks goblet cells Aphthous Ulceration (canker sore) ● Small, red halo ulcer that heals quickly then returns ● Common cause is recurrent aphthous stomatitis (RAS) ● Occurs exclusively on non-bound (non-keratinized) mucosa ● Pathogenesis is not well defined ● First appears in children, nutritional deficiencies in 20% of patients ● Tx: none for small lesions, mild corticosteroid gel or cream for major ulcers Leukoplakia ● Continue to follow up lesions even after biopsy ● White plaque of questionable risk that cannot be scraped off ● 1-4% population; low malignant potential ● 9-37% represent dysplasia/invasive carcinoma ● Clinical description, NOT diagnoses, lesion can have both (Erythroleukoplakia) Erythroplakia ● 90% are dysplastic/invasive carcinoma ● Red plaque of questionable risk that cannot be scraped off ● .02-.83% population; high malignant potential; 40% cases are dysplastic; >50% cases malignant ● Not all erythroplakic lesions are dysplasia/carcinoma o Red oral lesions may be inflammatory/reactive ● Clinical description, NOT diagnoses, lesion can have both (Erythroleukoplakia) Oral Lichen Planus** ● Etiology unknown; immune mediated ● More common in females (3:2); prevalence = 0.1-2.2% ● Chronic T-cell mediated inflammatory tissue rxn attacks basal cell layer ● Reticular and erosive clinical variants o Reticular (white): Wickham’s striae; asymptomatic ▪ Does not need to be treated o Erosive (red/yellow): epithelial atrophy, ulcerations, painful ▪ Biopsy for definitive diagnosis Geographic tongue/Erythema Migrans ● Most often observed on anterior 2/3 of tongue ● 1-3% of population; Females affected more than males ● Most common location is tongue ● Etiology unknown and no cure ● NO treatment Oral Squamous Cell Carcinoma ● Carcinoma, squamous differentiation arising from oral mucosal epithelium ● GLOBOCON project ~300,373 cases in 2012 ● Combined with oropharyngeal sites, OSCC is the 6th most common cancer o Most common intraoral cancer ● **Etiology: lip=sunlight; oral cavity= smoking/alc; oropharynx = HPV/smoking/alc Oral Melanoma** ● Clinical features: asymmetry, border irregularity, color variation, diameter >6mm, evolving ● Subtypes: superficial spreading, nodular, lentigo maligna and acral lentiginous (most common) ● Malignant neoplasm of melanocytic origin; distinct from lesions cutaneous of origin ● 10% amelanotic, 5-year survival rate of 10-25% ● Minimum stage III lesion, ~0.5% of all melanomas in US (~1.2 per 10 million) Ossifying Fibroma (may have overlapping clinical & microscopic features) ● Cemento-ossifying fibroma (COF) o Uncommon bone neoplasm of jaws, some cases have CDC73 mutation (HRPT2) o Painless expansion of buccal and lingual plates, mand >> max o Peak incidence is 3rd and 4th decades of life; Female to male ratio: 5:1** o Well defined and shelled out easily from surrounding tissue; Lacks GNAS mutation of FD ● Juvenile Ossifying Fibroma (JTOF) o Rare bone tumor, Trabecular (JTOF) and Psammomatoid (JPOF) variants o Distinguished from COF on basis of patient age, site, predilection and behavior o GNAS and HRPT2 mutations not detected, X:2 translocation was detected in small series o 30-58% recur; malignant transformation has not been reported Fibrous Dysplasia ● Postzygotic activating missense mutations in GNAS gene ● Skeletal anomaly where bone is replaced by immature bone and fibrous tissue ● Immature bony trabeculae characterized as curvilinear or Chinese characters ** ● Lesions stabilize with skeletal maturation ● Malignant transformation: only occurs in 1%, most feared complication (short survival) o Most common associated with McCune-Albright and Mazabraud syndrome ● Histology: Irregular & immature trabecular bone arising metaplastically from fibrous stroma o Bone often form geometric patterns: C-shaped, s-shaped (Chinese characters) ** Cemento Osseous Dysplasia ● Non-neoplastic Fibro-osseous lesion of tooth-bearing regions of jaws ● Most common fibro-osseous lesion of jaws ● Typically non-expansile** (florid can become expansile and secondarily infected) ● Strong predilection for black women; 5.5% black females ● 3 variants based on anatomic locations: periapical, focal and florid ● Clinical feature: asymptomatic, vital teeth, can find in edentulous sites, generally non-expansive ● X-ray findings: periphery =RADIOLUCENT RIM ● Histology: smally gritty pieces and roundish spherules; ginger root appearance o Cellular fibrous stroma, mineralized tissue Pleomorphic Adenoma ● Most common salivary gland neoplasm, benign, Most common salivary gland tumor in kids ● Small subset of PAs can become malignant (Carcinoma ex pleomorphic adenoma) ● 70% cases show PLAG1; HMGA2 gene fusion ● Histologically characterized by chondromyxoid stroma admixed with plasmacytoid myoepithelial cells & interspersed ducts Mucoepidermoid Carcinoma ● Most common salivary gland malignancy (1/3); Most common in parotid gland (45%) ● Tumor composed of mucous epidermoid, and intermediate cells ● Subset (70%) display MECT1/MAML2 translocation t (11;19) ● Grade based on cystic component, borders, nuclear atypia, perineural invasion o Low or intermediate grade = surgery is usually curative o High grade = surgery and adjuvant post-operative radiotherapy ▪ Surgery alone not effective, 40% survival rate ▪ Lack translocation & worse prognosis (may represent dif. Carcinoma) o Histology: Going from Low🡪 high; start to lack more cysts & develop islands ● Histology: squamous, goblet, intermediate cells Idiopathic Osteosclerosis ● Lacks radiolucent rim