Metabolic and Genetic Disorders Amyloidosis

1. Metabolic and Genetic DisordersAmyloidosis Etiology • May be primary (idiopathic), secondary to systemic disease, or familial • Formation of a fibrillar protein deposited in soft tissues and visceral organs with associated levels of dysfunction

2. Etiology • May be primary (idiopathic), secondary to systemic disease, or familial • Formation of a fibrillar protein deposited in soft tissues and visceral organs with associated levels of dysfunction

3. Clinical Presentation • The primary form may produce obvious tongue enlargement (macroglossia) and associated purpura, or nodular submucosal alterations. • The secondary form may be subtle; gingival tissues may contain deposits of amyloid.

4. Diagnosis • Appearance of tongue • Systemic complaints • Biopsy results: demonstration of amyloid deposits in tissues (tongue, gingiva)

5. Differential Diagnosis • Hyalinosis cutis et mucosae (lipoid proteinosis) • Leukemic infiltrate • Lymphangioma • Neurofibromatosis • Hemodialysis-related disorder

6. Treatment • Directed to underlying cause (secondary) • Localized amyloid tumors may be excised. • Generally symptom related (dialysis, digitalis, depending upon organ involvement)

7. Prognosis • • When renal impairment exists, transplantation may be necessary.

10. CherubismEtiology • Autosomal-dominant, fibroblast/giant cell–containing condition • May be secondary to somatic mutation, mapping to chromosome 4p16.3 • No associated metabolic or biochemical alterations noted • Possible linkage/association with Noonan’s syndrome

11. Clinical Presentation • Early signs in childhood • Bilateral, symmetric enlargement of mandible • Maxillary involvement less common and less prominent • Dental arch/occlusal discrepancies may be noted. • Unerupted teeth often noted • Facial features include lower-third fullness and scleral exposure at a forward resting gaze.

12. Radiographic Findings • Symmetric, multiloculated, expansile radiolucencies of mandibular body and ramus • Impacted/displaced teeth common • Thinned cortices with scalloped medullary margins • Older patients may exhibit maturation with bone fill in some areas but with preservation of expanded bony profile.

13. Diagnosis • Clinical appearance • Radiographic findings

14. Differential Diagnosis • Central giant cell granuloma (multiple) • Fibrous dysplasia • Langerhans cell disease (histiocytosis X) • Hyperparathyroidism • Multiple odontogenic keratocysts

15. Treatment • Variable, ranging from cosmetic recontouring to local curettage early in lesion development • Active surgical intervention should be deferred until after the pubertal growth spurt, if possible.

16. Prognosis • Stability usually noted by end of skeletal growth • Often regresses into adulthood, but variably so

18. Candidiasis

19. Etiology • Infection with a fungal organism of the Candida species, usually Candida albicans • Associated with predisposing factors: most commonly, immunosuppression, diabetes mellitus, antibiotic use, or xerostomia (due to lack of protective effects of saliva)

20. Clinical Presentation • • Acute (thrush) • • Pseudomembranous • • Painful white plaques representing fungal colonies on • inflamed mucosa • • Erythematous (acute atrophic): painful red patches caused • by acute Candida overgrowth and subsequent stripping of • those colonies from mucosa • • Chronic • • Atrophic (erythematous): painful red patches; organism • difficult to identify by culture, smear, and biopsy • • “Denture-sore mouth”: a form of atrophic candidiasis • associated with poorly fitting dentures; mucosa is red and • painful on denture-bearing surface

21. Clinical Presentation • • Median rhomboid glossitis: a form of hyperplastic • candidiasis seen on midline dorsum of tongue anterior to • circumvallate papillae • • Perlèche: chronic Candida infection of labial commissures; • often co-infected with Staphylococcus aureus • • Hyperplastic/chronic hyperplastic: a form of hyperkeratosis • in which Candida has been identified; usually buccal • mucosa near commissures; cause and effect not yet proven • • Syndrome associated: chronic candidiasis may be seen in • association with endocrinopathies

22. Diagnosis • • Microscopic evaluation of lesion smears • • Potassium hydroxide preparation to demonstrate hyphae • • Periodic acid–Schiff (PAS) stain • • Culture on proper medium (Sabouraud’s, corn meal, or • potato agar) • • Biopsy with PAS, Gomori’s methenamine silver (GMS), or • other fungal stain of microscopic sections

23. Differential Diagnosis • Allergic or irritant contact stomatitis • Atrophic lichen planus

24. Treatment • Topical or systemic antifungal agents • For immunocompromised patients: routine topical agents after control of infection is achieved, usually with systemic azole agents • See “Therapeutics” section • Correction of predisposing factor, if possible • Some cases of chronic candidiasis may require prolonged therapy (weeks to months).

25. Prognosis • Excellent in the immunocompetent host

26. Ecchymosis

27. Etiology • Soft tissue hemorrhage • Blood dyscrasia with secondary thrombocytopenia, hemophilia • Vascular wall defects • Coagulopathy • Trauma

28. Clinical Presentation • Larger than pinpoint spots (ie, larger than petechiae) • Nonvesicular, macular surface • Lesions do not blanch with pressure • Red to reddish blue to brown color

29. Diagnosis • Characteristic size, color • History • Blood count, coagulation profile

30. Differential Diagnosis • Hemophilia, Kaposi’s sarcoma, hemangioma, thrombocytopenia,von Willebrand’s disease, leukemia, trauma

31. Treatment • Identification of etiology, and corresponding treatment

32. Prognosis • Excellent

33. Hemangioma

34. Etiology • Benign developmental anomalies of blood vessels that may be subclassified as congenital hemangiomas and vascular malformations • “Congenital hemangioma” usually noted initially in infancy or childhood (hamartomatous proliferation) • Congenital hemangioma due to proliferation of endothelial cells • “Vascular malformations” due to abnormal morphogenesis of arterial and venous structures

35. Clinical Presentation • Congenital lesions usually arise around time of birth, grow rapidly, and usually involute over several years. • Malformations generally are persistent, grow with the child,and do not involute. • Color varies from red to blue depending on depth, degree of congestion, and caliber of vessels • Range in size from few millimeters to massive with disfigurement • Most common on lips, tongue, buccal mucosa • Usually asymptomatic • Sturge-Weber syndrome (trigeminal encephaloangiomatosis) includes cutaneous vascular malformations (port wine stains) along trigeminal nerve distribution, mental retardation, and seizures.

36. Diagnosis • Aspiration • Blanching under pressure (diascopy) • Imaging studies

37. Differential Diagnosis • Purpura • Telangiectasia • Kaposi’s sarcoma • Other vascular neoplasms

38. Treatment • Observation • Congenital hemangiomas typically involute, whereas vascular malformations persist. • Surgery (scalpel, cryosurgery, laser [argon, copper])—congenital hemangiomas usually are circumscribed and more easily removed than are vascular malformations, which are poorly defined. (Vascular malformations are associated with excessive bleeding and recurrence.) • Sclerotherapy • Microembolization followed by resection for large malformations or if bleeding is problematic

39. Prognosis • Guarded

40. Petechiae

41. Etiology • Viral infection (Epstein-Barr virus [EBV]-mononucleosis;measles), rickettsial infection • Thrombocytopenia, leukemia • Disseminated intravascular coagulation (DIC) • Trauma: prolonged coughing, frequent vomiting, giving birth,fellatio, violent Valsalva maneuvers

42. Clinical Presentation • Pinpoint hemorrhage into mucosa/submucosa • Asymptomatic • Usually involves the soft palate • No blanching on pressure (diascopy)

43. Diagnosis • Clinical features • History, determination of underlying cause

44. Treatment • None; observation only Prognosis • Variable, depending upon etiology

45. Plasma Cell Gingivitis

46. Etiology • Usually represents a hypersensitivity phenomenon to an agent such as the following: • Cinnamon/cinnamon flavoring • Candy flavors • Toothpaste/mouthwash • Plaque antigens

47. Clinical Presentation • Reddened, velvety gingival surface • Surface epithelium becomes nonkeratinized. • Limited to attached gingiva

48. Diagnosis • Response to elimination of possible etiologic agents • Biopsy results show plasma cell infiltration within the submucosa and lamina propria beneath an acanthotic epithelium. • Patch testing

49. Differential Diagnosis • Lupus erythematosus • Wegener’s granulomatosis • Chronic candidiasis • Lichen planus • Mucous membrane pemphigoid

50. Treatment • Elimination of causative factor Prognosis • Reversal with removal of causative agent