Regezi Oral Pathology 2 Midterm Reviewer PDF

ORAL PATHOLOGY 2 5. Working diagnosis = always communicate to narrow your differential diagnosis until you  Professor: Dra. Katrina Bianca B. Cruz-Natividad...

ORAL PATHOLOGY 2 5. Working diagnosis = always communicate to narrow your differential diagnosis until you  Professor: Dra. Katrina Bianca B. Cruz-Natividad come up with your working diagnosis  From San Mateo Morong, Rizal 6. Clinical History and Interview = strengthen your rapport and bond with your patient 7. Physical exam = hands on observational DIAGNOSIS PROCESS examination of the patients, observe patient`s  Tic Douloureux = Trigeminal Neuralgia, severe demeanor stabbing pain to one side of the face  Gait of patient = inconsistent height  Diagnosis = process of establishing the nature of measurement, abnormal walking an abnormality or disease that produces signs 8. Diagnostic Testing = can confirm suspected and symptoms diagnosis  Correct diagnosis the first step to successful  When in doubt you can always ask for second treatment opinion 9. Referral and Consultation = refer or consult to The Diagnostic Process a specialist 1. Patient Experiences a Health Problem = patient  Obturator is used to a patient with cleft palate only come for check up when in pain or there is 10. Communication of Diagnosis = execution of inflammation treatment plan, have a signed consent form  Always cater the right treatment plan 11. Treatment = schedule, rate of treatment  Our diagnosis starts on patient chief complaint  Always treat first the chief complaint  Chief complaint = reason why the patient is 12. Outcome = feedback of patient satisfaction seeking medical attention  Patient own words  Deepen your interview and ask why questions VESICULOBULLOUS DISEASE  Differential diagnosis = occurs when a pathology have many similar signs and  VIRAL DISEASES: 1) HERPES SIMPLEX VIRUS (HSV) symptoms INFECTIONS: 2. Patient Engages with Health care system Herpes simplex virus (HSVs) infections are common Influenced by Many Factors: vesicular eruptions of the skin and mucosa that occur in  Symptoms two forms—primary (systemic) as the result of initial  Access infection in a previously uninfected person and  Cost secondary (localized) as the result of viral reactivation in  Trust in the System a previously infected individual. 3. Information Gathering = Medical History, family history,, dental history, social history  Signs – Objective  Symptoms – Subjective  Chief Complaint – History of Present Illness  When -> How long -> What questions Diagnostic Instruments : Imaging, CBC, Stool Sample ETIOLOGY  Two forms of infection: 4. Information, Integration, Interpretation = working diagnosis might change. This 3Is o Primary (systemic): Occurs with initial depend on clinicians medical knowledge infection in a previously uninfected person.  o Secondary (localized): Results from o Infection: HSV infection of the reactivation of the virus in a previously finger(s), either primary or secondary. infected individual. o Cause: Inoculation through a break in skin integrity, PATHOGENESIS o Symptoms: Pain, redness, swelling, vesicles or pustules that become ulcers, possible lymphadenopathy. Last 4-6  Occurs mainly through physical contact with weeks. an infected person or exposure to body fluids. HISTOPATHOLOGY:  Symptomatic individuals develop vesiculoulcerative eruptions (primary gingivostomatitis) in oral and perioral o Microscopic Findings: Intraepithelial tissues. vesicles with exudate, inflammatory  Reactivation can be triggered by sunlight, cells, and virus-infected epithelial cells. colds, trauma, menstrual cycle, stress, or immunosuppression. DIFFERENTIAL DIAGNOSIS:  Types of HSV:  Primary Herpetic Gingivostomatitis:.. o HSV1: Typically affects the orofacial o Differentiation from Other region. Conditions: o HSV2: Affects the genital region but  Streptococcal Pharyngitis: can cause oral lesions through oral- Erythema Multiforme: genital contact.  Acute Necrotizing Ulcerative o Previous HSV1 infection may offer Gingivitis (ANUG): some protection against HSV2 due to o Secondary Herpes vs. Aphthous antibody cross-reactivity. Stomatitis:  Herpes  Aphthous Stomatitis: CLINICAL FEATURES  Primary Herpetic Gingivostomatitis: TREATMENT o Usually occurs in children, exposure. By age 15, about half of the population is Antiviral Drugs: infected. o Vesicular eruptions on skin, vermilion  Acyclovir & Analogs: border, and oral mucous membranes.  Acyclovir & Penciclovir: Can appear on any mucosal surface.  Docosanol: o Accompanying Symptoms: Fever, arthralgia, malaise, anorexia, headache, Systemic Antiviral Agents: cervical lymphadenopathy. o Healing: Lesions heal without scarring  Acyclovir (400 mg, 3x/day) or Valacyclovir after 7-10 days (1000 mg, 2x/day):  Secondary (Recurrent) Herpes Simplex o Effective for primary genital herpes. Infection: o Less effective for primary oral herpetic o Cause: Reactivation of latent virus, gingivostomatitis. rarely from exogenous reinfection.  Supportive Therapy: Fluids, rest, oral lavage, o Tingling, burning, pain at the site of analgesics, and antipyretics are essential lesion appearance. components. o Multiple fragile vesicles that quickly  Secondary Herpes: Controlled to some degree form superficial ulcers, healing without by systemic acyclovir scarring in 1-2 weeks. o Location: Most commonly appears on 2) VARICELLA ZOSTER INFECTION the vermilion border and surrounding skin (herpes labialis);and hard palate or In seronegative individuals, primary varicella-zoster gingiva. virus (VZV) infection is known as varicella or chickenpox,  Herpetic Whitlow: while secondary or reactivated disease is known as herpes zoster or shingles o Rash progresses to vesicular eruption, pustular lesions, and eventually ulcers. o Lesions appear in crops, causing multiple stages of development at once. o Oral mucous membranes may show multiple shallow ulcers. o Pruritic: Intense itching often leads to secondary bacterial infections and potential scarring.  Complications: o Rare but can include pneumonitis, encephalitis, and inflammation of other organs. ETIOLOGY Herpes Zoster (Shingles):  Varicella-Zoster Virus (VZV): o Similar in structure to Herpes Simplex  Affected Population: Primarily older adults and Virus (HSV). immunocompromised individuals. o Causes two forms of disease:  Symptoms:  Primary Infection: Known as o Prodromal symptoms of pain/paresthesia varicella (chickenpox). in the affected dermatome.  Reactivation: Known as herpes o A unilateral maculopapular rash that zoster (shingles). becomes vesicular, pustular, and ulcerative. PATHOGENESIS o Systemic symptoms may occasionally accompany the rash.  Primarily through direct contact via droplets  Complications: from skin lesions or inhalation of aerosolized o Post-herpetic neuralgia (may be difficult virus. Highly contagious. to treat).  Incubation: 2 weeks. HISTOPATHOLOGY  Reactivation: Can be triggered by immunosuppression (e.g., malignancies, HIV,  VZV and HSV Morphology: Similar drug administration), radiation, spinal surgery, histopathological features. or local trauma. DIFFERENTIAL DIAGNOSIS  Disease Progression: o Vesicular skin eruption → Pustular  Similar Conditions: Primary HSV infection lesions → Ulceration. and hand-foot-and-mouth (HFM) disease. o Duration: 2 to 3 weeks.  Herpes Zoster Confusion: Often mistaken for  Post-Herpetic Neuralgia: recurrent HSV infection. o Occurs in ~15% of patients, can take  Herpes Zoster Features: several months to resolve. o Longer duration and more intense prodromal symptoms. CLINICAL FEATURES o Unilateral lesion distribution with abrupt midline ending. Varicella (Chickenpox): o Presence of post-herpetic neuralgia.  Vaccine: Attenuated live vaccine developed in TREATMENT the 1970s by Dr. Michiaki Takahashi.  Symptoms:  Supportive therapy. o Fever, chills, malaise, headache.  Require antiviral therapies. o Rash primarily on the trunk, head, and  Effective Antiviral Drugs: Acyclovir, neck. vidarabine, interferon.   Vaccination: Live attenuated vaccine since HISTOPATHOLOGY: 1995; reduced cases, hospitalizations, and disease burden.  Vesicle enlargement due to destruction of keratinocytes, filled with proteinaceous debris Herpes Zoster Treatment: and inflammatory cells.  Effective Antiviral: Oral acyclovir (800 mg 5 DIFFERENTIAL DIAGNOSIS: times daily for 7-10 days)  Pain Management: Analgesics provide limited  Consider primary herpetic gingivostomatitis and relief; varicella.  Distinguishing features: mild symptoms, 3) HAND FOOT AND MOUTH DISEASE cutaneous lesions, epidemic spread. One of the subdivisions of the family of viruses known TREATMENT: as picornavirus (literally, small “pico” RNA virus) is the Coxsackie A group  General Approach: Symptomatic treatment Severe Cases: Monitor for complications like dehydration and encephalitis,  Symptom Relief: Bland mouth rinses (e.g., sodium bicarbonate in warm water)  Hospitalization: May be needed if dehydration occurs. 4) HERPANGINA Herpangina is an acute viral infection caused by another Coxsackie type A virus (types A1-6, A8, A10, A22, B3, ETIOLOGY and possibly others).  Virus Family: Coxsackie A group, part of picornavirus family.  Causing Agents: Primarily Coxsackie type A16 and enterovirus 71; other types include A5, A9, A10, B2, B5. PATHOGENESIS  Direct contact with nasal secretions, saliva, blister fluid, or fecal-oral contamination.  Mucous membranes (buccal mucosa, tongue), hands, feet, and buttocks. ETIOLOGY CLINICAL FEATURES  Caused by Coxsackie type A viruses (A1-6, A8, A10, A22, B3, possibly others).  Primarily affects children under 5 years old.  Symptoms: Low-grade fever, malaise, PATHOGENESIS lymphadenopathy, sore mouth.  Oral Lesions: Begin as vesicles, quickly rupture  Transmission through contaminated saliva and to form ulcers with a yellow fibrinous membrane occasionally feces. and erythematous halo; commonly on palate, tongue, and buccal mucosa. CLINICAL FEATURES:  Cutaneous Lesions: Multiple maculopapular lesions on feet, toes, hands, and fingers; progress  Vesicular Enanthem: Rash on mucous to vesicular state, ulcerate, and encrust without membranes, typically on soft palate, faucial scarring. pillars, and tonsils.  Occurrence: Common in children aged 3-10;   Symptoms: Malaise, fever, dysphagia, sore o Prodromal Symptoms: Fever, malaise, throat; diffuse erythematous pharyngitis. coryza, conjunctivitis, photophobia,  Duration: Vesicular eruption persists for 4-6 cough. days o Koplik’s Spots: Pathognomonic small erythematous macules with white DIFFERENTIAL DIAGNOSIS: centers in buccal mucosa; Rash Progression: Starts on head and neck,  Herpetic gingivostomatitis, HFM disease, moves to trunk and extremities. varicella. o Complications: Encephalitis,  Streptococcal pharyngitis (diffuse pharyngitis). thrombocytopenic purpura, secondary  Aphthous stomatitis (systemic symptoms). infections like otitis media and pneumonia. TREATMENT: HISTOPATHOLOGY:  Local measures usually sufficient.  Infected Epithelial Cells: Necrotic with  Complications: Rare, so extensive treatment is typically not required. inflamed connective tissue beneath. 5) MEASLES (RUBELLA) DIFFERENTIAL DIAGNOSIS:  Key Features: Prodromal symptoms, Koplik’s Measles is a highly contagious viral infection caused by spots, and rash. a member of the genus morbillivirus, a member of the paramyxovirus family of viruses. TREATMENT:  Supportive care including bed rest, fluids, adequate diet, and analgesics.  MMR Vaccine: Live attenuated viruses for measles, mumps, and rubella; effective and safe.  IMMUNOLOGIC DISEASE 1) PEMPHIGUS VULGARIS Pemphigus is a group of autoimmune mucocutaneous diseases characterized by intraepithelial blister ETIOLOGY formation that results from a breakdown or loss of intercellular keratinocyte adhesion, thus producing o Virus: Measles virus, an RNA- epithelial cell separation known as acantholysis of the enveloped virus from the morbillivirus skin and mucous membranes. genus, related to mumps and influenza viruses PATHOGENESIS o Spread by airborne droplets through the respiratory epithelium. o Rash: Early pinpoint elevations in the soft palate, coalescing with pharyngeal involvement and bright erythema; possible Herman spots (bluish-gray ETIOLOGY areas on tonsils).  CLINICAL FEATURES:  Autoimmune mucocutaneous diseases causing intraepithelial blister formation due to loss of  intercellular keratinocyte adhesion o Paraneoplastic Pemphigus (acantholysis). o Aphthous Ulcers  Consequences: Painful debilitation, fluid loss, o Pemphigus Vegetans (Subset of electrolyte imbalance, and historically, sepsis Pemphigus Vulgaris): and death. TREATMENT Types of Pemphigus:  Systemic Corticosteroids: Intermediate-dose  Pemphigus Vulgaris: Affects suprabasal prednisone is the cornerstone of treatment; high- epithelium and oral mucosa; potentially involves dose regimen used for severe cases. skin.  Nonsteroidal Immunosuppressive Agents:  Pemphigus Foliaceus: Affects the upper prickle Used in combination with corticosteroids; may cell layer of the skin; does not involve oral include azathioprine, dapsone, mycophenolate, mucosa. or cyclophosphamide.  IgA Pemphigus: Less common; characterized  Plasmapheresis by IgA autoantibodies.  Immunoadsorption  Pemphigus Vegetans: Rare variant of  Intravenous Immunoglobulin (IVIg) pemphigus vulgaris.  Biologic Agents (e.g., Rituximab)  Paraneoplastic Pemphigus: Associated with 2) MUCOUS MEMBRANE PEMPHIGOID malignancy; involves extensive mucocutaneous disease patterns and potentially internal organs. Mucous membrane pemphigoid (MMP) is a chronic blistering or vesiculobullous disease that affects PATHOGENESIS: predominantly oral and ocular mucous membranes  Antibodies disrupt desmosomal junctions, leading to loss of cell-to-cell adhesion. CLINICAL FEATURES:  Lesions: Painful ulcers preceded by flaccid, short-lived intraoral vesicles and bullae.  Bullae: Rapidly rupture, leaving painful, ulcerated bases with friable epithelial borders. ETIOLOGY  Ranges from small aphthous-like lesions to large, irregular map-like lesions.  Chronic blistering or vesiculobullous disease  Nikolsky Sign: Gentle traction on unaffected primarily affecting oral and ocular mucous mucosa may cause stripping of epithelium. membranes.  Discomfort: In soft palate, buccal mucosa, floor  Known by various names, including cicatricial of the mouth, and oropharynx. pemphigoid, benign mucous membrane  Age: Most common in the fourth and fifth pemphigoid, ocular pemphigus, childhood decades of life; can occur from childhood to pemphigoid, and mucosal pemphigoid. elderly age.  Autoimmune disease with unknown stimulus or etiology. HISTOPATHOLOGY: PATHOGENESIS  Intraepithelial Clefting: Characterized by keratinocyte acantholysis.  Antigenic targets include laminin 332 (epiligrin, laminin 5) and BP180 (bullous pemphigoid DIFFERENTIAL DIAGNOSIS antigen 180).  Must be distinguished from other CLINICAL FEATURES vesiculobullous diseases: o Mucous Membrane Pemphigoid  Primarily affects adults and the elderly, with a o Erythema Multiforme higher prevalence in women. o Erosive Lichen Planus   Affects Oral mucosa, conjunctiva, nasopharynx, Bullous pemphigoid and its closely related mucosal larynx, esophagus, and anogenital region. counterpart, MMP, appear to share similar etiologic and  Oral lesions: Typically present as superficial pathogenetic factors. ulcers, often limited to the gingiva. Chronic, persistent, and may heal with scarring. ETIOLOGY  Bullae: Fragile and short-lived, often not observed.  Bullous pemphigoid shares similar factors with  Gingival lesions: Bright red, friable patches or mucous membrane pemphigoid (MMP). ulcers with mild to moderate discomfort; may  Autoantibodies target basement membrane zone extend to unattached gingiva. antigens (BP230, BP180) found in  Positive Nikolsky sign may be observed (easy hemidesmosomes and lamina lucida stripping of intact epithelium). PATHOGENESIS. HISTOPATHOLOGY  Binding of autoantibodies activates the  MMP is characterized by subepithelial clefting complement cascade, attracting neutrophils and without acantholysis. eosinophils.  Early stages: Few lymphocytes are present.  Later stages: The infiltrate becomes denser and CLINICAL FEATURES: more mixed.  Primarily affects the elderly, with peak DIFFERENTIAL DIAGNOSIS incidence in the 70s and 80s.  Characterized by tense vesicles and bullae, often  Pemphigus vulgaris preceded by erythematous papular eruptions.  Erosive lichen planus  Skin lesions commonly appear on the trunk and  Atrophic lichen planus (when attached gingiva is limbs. exclusively involved)  Oral mucosal lesions are similar to those of  Linear IgA disease MMP, including bullae and erosions on the  Discoid lupus erythematosus gingiva, soft palate, buccal mucosa, and floor of  Contact allergy the mouth. TREATMENT HISTOPATHOLOGY  Corticosteroids are the main treatment, with  Bullae are subepithelial and cleave at the lamina prednisone for moderate to severe cases and lucida. topical steroids for mild cases.  High-potency topical steroids include clobetasol, TREATMENT: betamethasone dipropionate, fluocinonide, and desoximetasone.  Systemic corticosteroids are the main treatment.  Custom-made mouth guards can help keep  Nonsteroidal immunosuppressive agents, topical medication in place for gingival antibiotics (tetracycline, erythromycin), and involvement. niacinamide may be used.  Good oral hygiene, including chlorhexidine  Biologic agents, including rituximab rinses, enhances treatment effectiveness.  Periods of clinical remission can occur.  Systemic agents like tetracycline, niacinamide, sulfapyridine, and dapsone may be used when 4) DERMATITIS HERPETIFORMIS standard therapy fails. Dermatitis herpetiformis is a cutaneous vesiculobullous  Immunosuppressive agents (azathioprine, disease characterized by intense pruritus. cyclophosphamide, methotrexate, mycophenolate, and cyclosporine) are added to reduce steroid use in severe cases. ETIOLOGY AND PATHOGENESIS:  Rituximab is effective in recalcitrant or relapsed cases.  Dermatitis herpetiformis is a vesiculobullous disease with intense pruritus. 3 ) BULLOUS PEMPHIGOID   Associated with granular IgA deposits in the membrane tissue and antibodies to type VII papillary dermis and epidermal collagen. transglutaminase.  Hereditary Forms: Includes dystrophic,  Often linked with celiac disease, which involves junctional, and simplex types, with varying autoantibodies to tissue transglutaminase. genetic origins (autosomal dominant or recessive) and involving defects in basal cells, CLINICAL FEATURES: hemidesmosomes, or anchoring filaments.  Chronic disease mostly seen in young and CLINICAL FEATURES: middle-aged adults, with a slight male predominance.  Common Feature: Formation of blisters with  Characterized by papular, erythematous, minor trauma, especially on stress areas (e.g., vesicular lesions that are intensely pruritic. elbows, knees).  Lesions are usually symmetric, affecting  Onset: Infancy or early childhood for hereditary extensor surfaces (elbows, shoulders, sacrum, forms; adulthood for acquired type. buttocks) and may involve scalp and face.  Severity: Greater in inherited recessive forms,  Oral involvement is rare with possible widespread blisters, scarring, and dystrophic nails. HISTOPATHOLOGY  Oral Manifestations: Common and severe in recessive forms, including bullae, scarring,  Neutrophils, eosinophils, and fibrin are present constricted oral orifice, and hypoplastic teeth. at the tips of dermal papillae. TREATMENT AND PROGNOSIS: TREATMENT AND PROGNOSIS:  Treatment: Focuses on trauma avoidance and  Treated with dapsone, sulfoxone, or supportive care; options include corticosteroids, sulfapyridine. vitamin E, phenytoin, retinoids, dapsone, and  Gluten-free diet helps in managing associated immunosuppressive agents. enteropathy and reduces small bowel pathology.  Lifelong condition with long periods of WHITE LESIONS remission; often requires ongoing dietary restrictions or drug treatment.  White Lesions: o Appear due to scattering of light through  HEREDITARY DISEASE thickened keratin, epithelial hyperplasia, intracellular edema, or reduced 1) EPIDERMOLYSIS BULLOSA vascularity. Epidermolysis bullosa is a general term that o Can also result from fibrinous exudate, encompasses one acquired and as many as 20 submucosal deposits, surface debris, or genetic or hereditary varieties (dystrophic, fungal colonies. junctional or simplex) of diseases that are characterized by the formation of blisters at sites of  HEREDITARY CONDITIONS minor trauma. LEUKOEDEMA: Leukoedema is a generalized mild opacification of the buccal mucosa that is common enough to be regarded as a variation of normal. ETIOLOGY AND PATHOGENESIS:  Acquired Form: Epidermolysis bullosa acquisita, often triggered by specific drugs, characterized by IgG deposits in sub-basement  o ETIOLOGY AND PATHOGENESIS: known as Witkop disease or Witkop-von Sallmann  Cause unknown; factors like syndrome, is a rare, hereditary condition (autosomal smoking, tobacco, alcohol, dominant). infection, and cannabis use implicated but not proven. o ETIOLOGY: o CLINICAL FEATURES:  Autosomal-dominant condition  Asymptomatic, gray-white, linked to a mutation in NLRP1 diffuse, filmy/milky surface, on chromosome 17p13.2. typically in buccal mucosa. o CLINICAL FEATURES: o HISTOPATHOLOGY:  Early onset of bulbar  Parakeratotic and acanthotic conjunctivitis and oral white epithelium with marked lesions, usually in the first year intracellular edema of spinous of life. cells.  Oral lesions: soft, o TREATMENT: asymptomatic, white  No treatment needed folds/plaques of spongy mucosa. WHITE SPONGE NEVUS (WSN): o HISTOPATHOLOGY:  Epithelial hyperplasia and White sponge nevus (WSN) is an autosomal-dominant acanthosis with intracellular inherited condition that is due to point mutations for edema and dyskeratotic genes coding for keratin 4 and/or 13. elements. o TREATMENT:  No treatment needed FOLLICULAR KERATOSIS (DARIER’S DISEASE): Follicular keratosis (Darier’s disease, Darier-White disease) is an autosomal-dominant disorder that results o ETIOLOGY: in desmosomal defects and dysfunction by way of  Autosomal-dominant inheritance due to mutations in altered epithelial cell adhesion keratin 4 and/or 13. o CLINICAL FEATURES: o ETIOLOGY:  Asymptomatic, thickened,  Autosomal-dominant disorder spongy white lesions, bilaterally caused by mutations in ATP2A2 and symmetrically on buccal on chromosome 12q23-24, mucosa. affecting calcium-dependent  Typically appears before cell processes. puberty, sparing skin. o CLINICAL FEATURES: o HISTOPATHOLOGY:  Onset between ages 6-20 years;  Thickened epithelium with mainly affects the skin. spongiosis, acanthosis,  Oral lesions: small, whitish parakeratosis, and marked papules on the attached gingiva hydropic changes. and hard palate. o TREATMENT: o HISTOPATHOLOGY:  No treatment required  Formation of suprabasal lacunae with acantholytic cells, basal HEREDITARY BENIGN layer proliferation, vertical INTRAEPITHELIAL DYSKERATOSIS clefts, and presence of corps (HBID): ronds and grains. o TREATMENT:  Topical corticosteroids and Hereditary benign intraepithelial dyskeratosis (HBID), retinoic acid to improve skin also lesions and reduce symptoms.   Chronic, slowly progressive inflammation and keratosis with potential disease; some remissions dysplastic changes. possible.  CLINICAL FEATURES: White lesions develop in areas where tobacco is placed, often  REACTIVE LESIONS in the mucobuccal fold; may appear granular, wrinkled, or folded; usually painless. FOCAL (FRICTIONAL) HYPERKERATOSIS  HISTOPATHOLOGY: Shows parakeratosis, epithelial changes, and potential dysplasia; inflammatory infiltrate is common. Focal (frictional) hyperkeratosis is a white lesion that is  TREATMENT AND PROGNOSIS: Lesions related to chronic rubbing or friction against an oral may resolve with cessation of tobacco use mucosal surface. NICOTINE STOMATITIS Nicotine stomatitis is a common tobacco-related form of keratosis.  ETIOLOGY: White lesion caused by chronic rubbing or friction against oral mucosa, similar to a callus on the skin.  CLINICAL FEATURES: Commonly occurs on lips, lateral tongue, buccal mucosa, and edentulous alveolar ridges; may result from cheek/lip chewing or trauma from dentures.  ETIOLOGY: Associated with pipe and cigar  HISTOPATHOLOGY: Shows hyperkeratosis smoking; related to the direct topical effect of with a few chronic inflammatory cells in the smoke and heat. underlying tissue.  CLINICAL FEATURES: Begins with  DIAGNOSIS: Based on history and erythematous change and progresses to examination; resolves with cessation of the keratinization; red dots surrounded by white causative habit. rings appear on the palate.  TREATMENT: Observation; habit control  HISTOPATHOLOGY: Shows epithelial leads to improvement; no malignant potential. hyperplasia, hyperkeratosis, and inflammation of minor salivary glands. WHITE LESIONS ASSOCIATED WITH  TREATMENT AND PROGNOSIS: Rarely SMOKELESS TOBACCO leads to malignancy, except in reverse smokers; indicates a higher risk of dysplasia and neoplasia A causal relationship has been documented between elsewhere. smokeless tobacco and white tissue changes. HAIRY LEUKOPLAKIA In 1984, an unusual white lesion along the lateral margins of the tongue, predominantly in gay men, was first described.  ETIOLOGY: Caused by the use of smokeless tobacco, particularly snuff; involves  Dentifrice-associated slough is a relatively common phenomenon that has been associated with the use of several different brands of toothpaste  ETIOLOGY AND PATHOGENESIS: Related to Epstein-Barr virus (EBV); commonly seen in HIV-infected individuals or those with other forms of immunosuppression.  CLINICAL FEATURES: Presents as a well- demarcated white lesion on the lateral margins  ETIOLOGY: Superficial chemical burn or of the tongue; may be unilateral or bilateral, flat, reaction to toothpaste components like or corrugated. detergents or flavoring agents.  HISTOPATHOLOGY: Characterized by  CLINICAL FEATURES: Presents as a hyperparakeratosis, viral inclusions, and painless, superficial whitish slough on the buccal ballooning degeneration of keratinocytes. mucosa, easily swiped away; resolves with a  TREATMENT AND PROGNOSIS: No switch to a blander toothpaste. specific treatment; linked to HIV and other  TREATMENT AND PROGNOSIS: Switching immunosuppressive conditions. to another toothpaste or mouth rinse resolves the issue; benign condition. HAIRY TONGUE  PRENEOPLASTIC AND NEOPLASTIC Hairy tongue is a clinical term referring to a condition of LESIONS filiform papillary overgrowth on the dorsal surface of the tongue of variable color. ACTINIC CHEILITIS (AC) Actinic, or solar, cheilitis represents accelerated tissue degeneration of the vermilion (dry mucous membrane) of the lips, especially the lower lip, as a result of chronic exposure to sunlight;  ETIOLOGY: Linked to antibiotic use, smoking, radiation therapy, and poor oral hygiene; caused by overgrowth of filiform papillae and microbial proliferation. DEFINITION:  CLINICAL FEATURES: Appears as a thick, matted surface on the dorsal tongue; color varies from white to black; usually asymptomatic but  Degeneration of the vermilion (lip) tissue due to may cause gagging. chronic sun exposure; potentially premalignant.  HISTOPATHOLOGY: Shows elongated filiform papillae with surface contamination by PATHOGENESIS: microorganisms.  TREATMENT AND PROGNOSIS:  Caused by UVB rays (2900-3200 nm), affecting Discontinuing causative agents and practicing both epithelium and connective tissue. good oral hygiene CLINICAL FEATURES DENTIFRICE-ASSOCIATED SLOUGH   Appearance: Lips appear atrophic, pale, silvery  CLINICAL FEATURES: Common in middle- gray, glossy; fissuring, wrinkling, and swelling aged and older adults; predominant sites include are common. mandibular and buccal mucosa.  Advanced Cases: Poorly defined vermilion-skin  HISTOPATHOLOGY: Varies from junction, epidermization, hyperpigmentation, hyperkeratosis to invasive carcinoma; dysplasia keratosis, scaling, cracking, ulceration may be mild, moderate, or severe.  TREATMENT: Periodic exams, rebiopsy, HISTOPATHOLOGY excision of dysplastic lesions, with options like cryosurgery, laser surgery, or topical agents.  Epithelium: Atrophic, hyperkeratotic, with potential dysplasia.  DIFFERENTIAL DIAGNOSIS: Consider if  Connective Tissue: Solar elastosis (basophilic the lesion can be removed or if it is bilaterally changes) and telangiectasia. present; biopsy non-removable lesions. TREATMENT  OTHER WHITE LESIONS  Prevention: Avoid sun exposure; use lip balm GEOGRAPHIC TONGUE (ERYTHEMA with sunscreen (PABA, titanium dioxide, zinc IGRANS/BENIGN MIGRATORY GLOSSITIS) oxide).  Advanced Cases: Biopsy of persistent ulcers; Geographic tongue, also known as erythema vermilionectomy or wedge excision for migrans and benign migratory glossitis, is a suspicious lesions; options include laser surgery, condition of unknown cause. cryosurgery ACTINIC KERATOSES (AK) Actinic keratoses of the skin, the cutaneous counterpart of actinic cheilitis, are epithelial changes noted typically in lightcomplexioned individuals who have had long- term exposure to sunlight.  Relation to AC: AK is the cutaneous counterpart of AC, often found in sun-exposed  Etiology: Geographic tongue is a condition with areas like the face and neck. an unknown cause, often more prevalent in  Appearance: Oval plaques, rough texture, color whites and blacks compared to Mexican varies from yellow-brown to red. Americans.  Risk: A small percentage may develop into  Clinical Features: The condition is squamous cell carcinoma. characterized by atrophic patches on the tongue  Treatment: Cryotherapy, topical 5-fluorouracil, surrounded by elevated keratotic margins, which curettage, surgical excision, and biopsy for appear red and may be slightly tender. The suspicious lesions. pattern changes over days or weeks, seemingly moving across the tongue. IDIOPATHIC LEUKOPLAKIA  Histopathology: Geographic tongue features atrophy of the filiform papillae, hyperkeratosis, and acanthosis at the lesion's margins. Leukoplakia is a descriptive clinical term indicating a  Differential Diagnosis include candidiasis, white patch or plaque of oral mucosa that cannot be leukoplakia, lichen planus, and lupus rubbed off and cannot be characterized clinically as any erythematosus. other disease  Treatment and Prognosis: Treatment is generally unnecessary due to the self-limiting  Definition: White oral mucosal patch that and asymptomatic nature of geographic tongue. cannot be rubbed off or identified as another disease; may range from benign hyperkeratosis LICHEN PLANUS to invasive squamous cell carcinoma.  ETIOLOGY: Often related to tobacco use, alcohol, trauma, or C. albicans infection. Lichen planus is a chronic mucocutaneous disease o Systemic (Acute) Lupus of unknown cause, with oral lesions occurring most Erythematosus (SLE): Affects multiple commonly in women between 30 and 60 years of organs, more severe. age o Discoid (Chronic) Lupus Erythematosus (DLE): Mainly affects the skin, especially the face; rarely progresses to SLE. o Subacute Cutaneous Lupus Erythematosus: Intermediate between SLE and DLE; mild systemic involvement with skin lesions.  ETIOLOGY AND PATHOGENESIS: o Autoimmune disease involving both humoral and cell-mediated immune responses.  CLINICAL FEATURES:  ETIOLOGY AND PATHOGENESIS: Lichen o DLE: planus is a chronic mucocutaneous disease with  Common in middle-aged an unknown cause, commonly affecting women women. between 30 and 60 years old. It is believed to be  Lesions typically on face and an immunologically mediated process, scalp; may cause scarring and resembling a hypersensitivity reaction. permanent hair loss.  CLINICAL FEATURES: Stress may influence o SLE: disease severity, but it is not a sole cause. An  Milder skin and mucosal association with hepatitis C has been suggested lesions; multisystem  HISTOPATHOLOGY: Microscopic features involvement dominates. include hyperkeratosis, basal layer  Classic "butterfly" rash on the vacuolization, and a lymphophagocytic infiltrate face; other body areas may also at the epithelium-connective tissue interface. be affected. DIFFERENTIAL DIAGNOSIS: include  Systemic symptoms include lichenoid drug reactions, lupus erythematosus, fever, weight loss, and malaise. white sponge nevus, hairy leukoplakia, cheek  HISTOPATHOLOGY: chewing, graft-versus-host disease, candidiasis, o DLE: Basal cell destruction, idiopathic leukoplakia, and squamous cell hyperkeratosis, epithelial atrophy, carcinoma. o SLE: Similar to DLE but with less  TREATMENT AND PROGNOSIS: Lichen intense inflammation planus cannot be cured, but symptoms can be  DIFFERENTIAL DIAGNOSIS: managed with corticosteroids o Oral LE lesions may resemble erosive lichen planus but are less symmetrical. SYSTEMIC ERYTHEMTOSUS (LE) o Other differential diagnoses include mucous membrane pemphigoid, erythematous lichen planus, Lupus erythematosus (LE) may be seen in one of erythematous candidiasis, and contact two wellrecognized forms: systemic (acute) lupus hypersensitivity. erythematosus (SLE) and discoid (chronic) lupus  TREATMENT: erythematosus (DLE), both of which may have oral o DLE: Treated with topical manifestations. corticosteroids; refractory cases may require antimalarials or sulfones. o SLE: Systemic steroids like prednisone, often combined with immunosuppressants; antimalarials and NSAIDs may also be used. CANDIDIASIS Candidiasis is a common opportunistic oral mycotic oFungal hyphae penetrate the infection that develops in the presence of one of epithelium; neutrophilic infiltration is several predisposing conditions. common.  DIFFERENTIAL DIAGNOSIS: o Candidal lesions should be differentiated from chemical burns, syphilis, white keratotic lesions, and others.  TREATMENT AND PROGNOSIS: o Topical antifungals like nystatin or clotrimazole are effective for most cases.  ETIOLOGY AND PATHOGENESIS: MUCOSAL BURNS o Caused by C. albicans and, less commonly, other species like C. The most common form of superficial burn of the oral parapsilosis, C. tropicalis, etc. mucosa is associated with topical applications of o Exists in three forms: yeast chemicals, such as aspirin or caustic agents (blastospores), pseudohyphae, and chlamydospores. o Infection usually remains superficial, affecting oral mucosa or skin.  CLINICAL FEATURES: o Acute Pseudomembranous Candidiasis (Thrush):  Common in infants, elderly, patients with cancer, or those undergoing chemotherapy.  White, soft plaques on the oral mucosa; painful when wiped away.  ETIOLOGY: o Acute Erythematous Candidiasis: o Caused by topical application of chemicals (e.g., aspirin, caustic agents,  May result from persistent drugs). pseudomembranous o Accidental dental procedures (e.g., candidiasis. phosphoric acid) or overuse of alcohol-  Associated with antibiotic use; based mouth rinses. manifests as red lesions with o Thermal burns from hot foods/liquids, erosions. commonly on the hard palate. o Chronic Erythematous Candidiasis:  CLINICAL FEATURES:  Common in geriatric patients o Localized mild erythema to white with dentures; primarily affects slough/membrane due to surface the palate. necrosis.  Causes bright red, velvety  HISTOPATHOLOGY: mucosa; can lead to angular o Coagulative necrosis of the epithelium; cheilitis. fibrinous exudate; intense inflammation. o Chronic Hyperplastic Candidiasis:  TREATMENT:  Resembles leukoplaki o Symptomatic therapy (e.g., sodium  Includes median rhomboid bicarbonate rinses, analgesics). o Avoid alcohol-based mouth rinses; glossitis and nodular papillary lesions. o Mucocutaneous Candidiasis: SUBMUCOUS FIBROSIS  Persistent candidiasis affecting oral mucosa, skin, and nails.  HISTOPATHOLOGY: Several factors contributing to submucous fibrosis oLobules of sebaceous glands around include general nutritional or vitamin deficiencies and excretory ducts; glands appear hypersensitivity to various dietary constituents. functional.  TREATMENT:  ETIOLOGY: o No treatment necessary o Caused by chewing areca (betel) nut, nutritional deficiencies, and chronic ECTOPIC LYMPHOID TISSUE irritants. o Impaired collagen degradation and Lymphoid tissue may be found in numerous oral increased collagen cross-linking. locations, most notably in the region surrounding the  CLINICAL FEATURES: oropharynx termed Waldeyer’s ring. o Common in Southeast Asia; associated with areca nut and tobacco use.  ETIOLOGY: o Whitish-yellow mucosal changes o Lymphoid tissue found in various oral leading to fibrosis, trismus, and locations, part of Waldeyer’s ring. difficulty eating.  CLINICAL FEATURES: o Often affects buccal mucosa and soft o Small, dome-shaped yellow or yellow- palate; possible extension to pharynx white elevations. and esophagus. o Typically uninflamed and  HISTOPATHOLOGY: asymptomatic. o Epithelial atrophy and fibrosis with mild o Sometimes leads to "lymphoepithelial to moderate inflammation. cysts" due to crypt obstruction.  TREATMENT:  TREATMENT: o Eliminate causative agents; use of o No biopsy needed unless cystic changes chymotrypsin, hyaluronidase, are suspected. dexamethasone injections. o Surgical excision and grafts; condition is GINGIVAL CYSTS generally irreversible. o High risk of progression to squamous Gingival cysts of odontogenic origin occur in adults, as cell carcinoma. well as in infants (Bohn’s nodules). FORDYCE’S GRANULES  ETIOLOGY: o Neonatal gingival cysts arise from Fordyce’s granules represent ectopic sebaceous glands dental lamina remnants; adult cysts or sebaceous choristomas (normal tissue in an likely from dental lamina remnants or abnormal location). traumatic implantation. o Epstein’s pearls (midline palatal cysts) result from epithelial entrapment during palatal fusion.  CLINICAL FEATURES: o Neonatal cysts: off-white nodules on alveolar crests; midline palatal cysts along the palatal raphe.  ETIOLOGY: o Adult cysts: painless growths on the o Ectopic sebaceous glands; considered a attached gingiva, often in the developmental variation of normal. mandibular premolar region.  CLINICAL FEATURES:  HISTOPATHOLOGY: o Multiple yellow or yellow-white o Neonatal cysts: stratified squamous granules, often in aggregates. epithelium lined with keratinaceous o Common on buccal mucosa and upper debris. lip vermilion. o Adult cysts: thin cuboidal or flattened o Asymptomatic and typically noticed in epithelium with focal clear cell change. routine examinations.  TREATMENT:  HISTOPATHOLOGY: o Neonatal cysts: no treatment needed o Adult cysts: require surgical excision. PARULIS  The exact cause of Paget's disease is unknown, but possible factors include infection by A parulis, or “gum boil,” represents a focus of pus in the paramyxovirus, environmental influences, and gingiva genetic mutations, which affects osteoclast development. PATHOGENESIS:  Paget's disease involves abnormal bone remodeling due to altered osteoclast and osteoblast functions. The disease progresses through stages: Resorptive Phase, Vascular Phase, Sclerotic Phase: CLINICAL FEATURES:  ETIOLOGY: o Represents pus from an acute infection  Typically affects individuals over 50 years old. at the base of a periodontal pocket or  Common sites include the pelvis, skull, tibia, nonvital tooth. vertebrae, humerus, sternum, and jaws  CLINICAL FEATURES: (especially the maxilla). o Yellow-white gingival swelling with  Symptoms include bone pain (deep and aching), associated erythema; pain relieved when deformity, increased skin temperature over pus escapes. affected areas, and neurologic issues (e.g.,  TREATMENT: headache, hearing and vision disturbances, o Address underlying periodontal pocket vertigo). or nonvital tooth infection to resolve the  Oral signs include jaw enlargement, diastemas, abscess. ill-fitting dentures, patchy radiographic opacities, and hypercementosis. LIPOMA HISTOPATHOLOGY: Lipoma appears as a yellow or yellow-white uninflamed submucosal mass of adipose tissue. I  Initial phase shows random overactive osteoclastic resorption.  ETIOLOGY: o A submucosal mass of adipose tissue, DIFFERENTIAL DIAGNOSIS: typically yellow or yellow-white and uninflamed.  Fibrous dysplasia, osteopetrosis, and osteosarcoma, among others. TREATMENT: METABOLIC AND GENETIC  Treatment is typically indicated for symptomatic DISEASE patients or those with elevated alkaline phosphatase levels.  METABOLIC CONDITIONS  Bisphosphonates and calcitonin are used to control bone resorption and deposition. PAGET'S DISEASE (OSTEITIS DEFORMANS) HYPERPARATHYROIDISM Paget’s disease, or osteitis deformans, is a chronic, slowly progressive metabolic disorder of bone of Hyperparathyroidism may be one of three types: undetermined cause primary, secondary, or hereditary ETIOLOGY:  ETIOLOGY:   Primary Hyperparathyroidism: Caused by Hyperfunction of the thyroid gland, or hyperthyroidism, hypersecretion of parathyroid hormone (PTH) encompasses several conditions.  Secondary Hyperparathyroidism: Compensatory response to low serum calcium  ETIOLOGY: due to conditions like renal failure, malabsorption, or vitamin D deficiency.  Graves’ disease  Hereditary Hyperparathyroidism:  Excess stimulation via the hypothalamic- Autosomal-dominant condition (e.g., multiple pituitary axis. endocrine neoplasia types 1 and 2A).  PATHOGENESIS:  PATHOGENESIS:  Excessive production of thyroid hormones T3  Elevated PTH leads to increased osteoclast and T4. activity, resulting in bone resorption, elevated serum calcium,  Secondary hyperparathyroidism occurs due to  CLINICAL FEATURES: hypocalcemia from chronic renal failure or malabsorption,  Systemic: Heat intolerance, hyperhidrosis, palmar erythema, fine motor tremor, muscle weakness, palpitations, atrial fibrillation,  CLINICAL FEATURES: diarrhea, anxiety, irritability, weight loss, menstrual dysfunction.  Asymptomatic in many cases, detected through  Dermatologic: Altered complexion, thinning elevated serum calcium. and brittle hair.  Symptoms may include fatigue, weakness, bone  Ocular: Upper lid retraction, lid lag, pain, headaches, nausea, anorexia, polyuria, exophthalmos (bright-eyed stare). thirst, depression, and constipation.  Other: Pretibial myxedema, acropachy (soft  "Stones, bones, groans, and moans" (renal tissue enlargement, finger clubbing). calculi, bone pathology, duodenal ulcers,  Cardiac: Increased stroke volume, pulse rate, neuropsychiatric symptoms). and cardiac output.  Oral manifestations include loosening of teeth,  Oral: Premature exfoliation of deciduous teeth, osteoporotic appearance of the jaw, and rapid eruption of permanent teeth (children), radiolucencies. osteoporosis of the mandible and maxilla (adults), burning tongue, increased dental  HISTOPATHOLOGY: erosion.  Bone lesions show osteoclastic resorption and  HISTOPATHOLOGY: formation of osteoid trabeculae by osteoblasts.  Hyperplastic thyroid tissue with follicular  DIFFERENTIAL DIAGNOSIS: hyperplasia.  Conditions like central giant cell granuloma,  DIFFERENTIAL DIAGNOSIS: osteitis fibrosa cystica, and other metabolic bone disorders should be considered.  Toxic multinodular goiter.  Thyroiditis.  TREATMENT:  Other forms of thyrotoxicosis.  Primary Hyperparathyroidism: Surgical  TREATMENT: removal of the affected parathyroid glands; medical management with bisphosphonates in  Symptom Control: Beta-blockers to manage some cases. symptoms like tachycardia and tremors.  Secondary Hyperparathyroidism:  Thyroid Hormone Reduction: Thyroid- Management of underlying renal disease, use of suppressive drugs (e.g., propylthiouracil, vitamin D analogs, methimazole)  Surgery: Thyroidectomy with caution HYPERTHYROIDISM HYPOTHYROIDISM Hypophosphatasia represents a deficiency of alkaline phosphatase Hypothyroidism is a systemic condition that is caused by reduced production of thyroid hormone.  ETIOLOGY:  ETIOLOGY:  Caused by a deficiency of alkaline phosphatase.  Rare hereditary disorder transmitted in an  Congenital defect. autosomal-recessive manner.  Iodine deficiency goiter.  Autoimmune (Hashimoto’s thyroiditis).  PATHOGENESIS:  Diseases of the pituitary and hypothalamus (central hypothyroidism).  Leads to inadequate formation of dentin and cementum in teeth.  PATHOGENESIS:  Results in disordered bone mineralization, causing rickets, osteomalacia, fractures, and  Reduced production of thyroid hormones (T3 other skeletal abnormalities. and T4).  Affects long bones, leading to inadequate  Primary hypothyroidism: Low T4, high TSH mineralization and wide osteoid seams. (compensatory pituitary response).  Secondary hypothyroidism: Low T4 and low  CLINICAL FEATURES: TSH (pituitary malfunction).  Dental Features:  CLINICAL FEATURES: o Premature loss of primary dentition, primarily involving anterior teeth.  Children: Cretinism (delayed skeletal and o Enlarged pulp chambers, alveolar bone dental development, sexual immaturity). loss, abnormal root cementum, and  Adults: Myxedema (edema of face, eyes, lips, hypoplastic enamel defects. tongue).  Skeletal Features:  General: Fatigue, lethargy, slow pulse, anemia, o Delayed skeletal development, hyperlipidemia. especially in congenital and early infantile types.  HISTOPATHOLOGY:  HISTOPATHOLOGY:  Hypofunctional thyroid tissue with reduced follicular activity.  Decreased tissue levels of alkaline phosphatase.  DIFFERENTIAL DIAGNOSIS:  DIFFERENTIAL DIAGNOSIS:  Central hypothyroidism.  Cyclic neutropenia, idiopathic histiocytosis,  Euthyroid sick syndrome. juvenile periodontitis, acrodynia, rickets,  Depressive disorders (due to similar lethargy Papillon-Lefèvre syndrome (conditions symptoms). associated with premature tooth exfoliation).  Anemia (due to fatigue and lethargy).  TREATMENT:  TREATMENT:  No successful treatment  Gradual replacement with synthetic or natural  Management focuses on controlling thyroid hormone preparations. hypercalcemia, large doses of vitamin D.  Monitor and adjust drug dosages (opiates, hypnotics, anticoagulants) INFANTILE CORTICAL HYPERTOSIS HYPOPHOSPHATASIA Infantile cortical hyperostosis, or Caffey’s disease, is a very rare, self-limited, short-lived proliferative bone disease of genetic origin which usually manifests in bone secondary to a non-neoplastic vascular-lymphatic early infancy. proliferation  ETIOLOGY:  ETIOLOGY:  Rare, self-limited, proliferative bone disease of  Also known as massive osteolysis or vanishing genetic origin. bone disease.  Typically manifests in early infancy.  Rare, non-neoplastic condition characterized by progressive localized destruction of bone.  PATHOGENESIS:  PATHOGENESIS:  Characterized by cortical-subperiosteal thickening of various bones,  Bone destruction occurs slowly and  Swelling of overlying soft tissues is common. progressively, often following trauma or  Pain, fever, and hyperirritability are frequent spontaneously. symptoms.  Diagnostic triad: swelling, bone lesions, and  CLINICAL FEATURES: irritability.  Bone Involvement:  CLINICAL FEATURES: o Can affect nearly any bone in the body, with the maxillofacial region involved in  Bone Involvement: some cases. o Mandible most commonly affected, o Usually develops before the fourth especially in sporadic cases ( decade of life, although it can affect o Other affected bones may include individuals from 18 months to 72 years clavicles, long bones, maxilla, ribs, and of age. scapulae. o Progressive atrophy of the affected bone  Radiographic Features: leads to significant deformity. o Expansile hyperostotic process visible o In severe cases, the affected bone may over the cortical surface. completely disappear. o Rounding or blunting of the mandibular  Symptoms: coronoid process. o Pain is usually absent unless a pathological fracture occurs.  DIAGNOSIS: o Swelling and variable levels of osteolysis may be present.  Technetium (99mTc) scans can facilitate early diagnosis, often positive before routine  RADIOGRAPHIC FEATURES: radiographic detection.  Early signs include intermedullary subcortical  TREATMENT: radiolucencies with indistinct margins and thin radiopaque borders.  Primarily supportive care  Systemic corticosteroids and NSAIDs  DIAGNOSIS:  The disease course may include relapses and remissions;  No known genetic basis or specific ethnic or gender predilection. PHANTOM BONE DISEASE (GORHAM`S DISEASE)  TREATMENT: Phantom bone disease, also known as massive  No standardized effective treatment is available. osteolysis, Gorham’s disease, or vanishing bone disease,  Surgical interventions, such as bone grafts, are is an unusual process characterized by posttraumatic or often unsuccessful as the disease can affect the spontaneous slow, progressive, localized destruction of graft.  Moderate doses of radiation therapy ACROMEGALY  GENETIC ABNORMALITIES This disease is characterized by bony and soft tissue overgrowth and metabolic disturbances. CHERUBISM  ETIOLOGY: Cherubism is a benign hereditary condition that affects the jaws only and is transmitted as an autosomal-  Over 90% of cases are due to a benign pituitary dominant trait. adenoma that secretes excessive GH.  ETIOLOGY:  PATHOGENESIS  Genetic Basis:  Pituitary adenomas may also produce other o The condition is linked to mutations in hormones, including prolactin, TSH, or ACTH. the SH3BP2 gene on chromosome 4p16.3. o The condition has been classified by  CLINICAL FEATURES: some as an autoinflammatory disease.  Typically presents in the fourth decade of life, with an insidious onset leading to delayed  CLINICAL FEATURES: diagnosis.  Younger patients often have more aggressive  Usually detected in children by the age of 5. tumors.  Symmetric enlargement of the mandible and/or maxilla.  Most commonly affects the mandibular angle, Symptoms: ascending ramus, retromolar region, and posterior maxilla.  Hyperhidrosis, coarse body hair, muscle  Bilateral swelling of the lower face with full weakness, paresthesia/carpal tunnel syndrome, cheeks and upward-gazing eyes, giving a large joint arthropathy, and dysmenorrhea. "cherubic" appearance.  Thickened skin, sleep apnea, hypertension, and  Hard, nontender swellings in affected areas. heart disease. Premature loss of primary teeth, displacement of  Skin tags, which may be indicative of colonic developing tooth follicles, ectopic eruption, and polyps. impaction of permanent teeth.  Facial changes including frontal bossing, nasal  Well-defined multilocular radiolucencies in the bone hypertrophy, and mandibular prognathism. jaws, often giving a "soap bubble" appearance.  Enlarged paranasal sinuses and laryngeal hypertrophy leading to a deep, resonant voice.  Enlargement of the mandible and maxilla,  HISTOPATHOLOGY: leading to dental malocclusion, macroglossia, and prominent lips.  Vascularized fibrous stroma with multinucleated giant cells, resembling central giant cell granuloma.  DIAGNOSIS:  Nonsuppressible GH levels after glucose loading  DIFFERENTIAL DIAGNOSIS: is diagnostic.  MRI or CT of the sella turcica to detect pituitary  Include ossifying fibroma, giant cell granuloma, tumors. giant cell tumor, fibrous dysplasia, and Paget’s disease.  TREATMENT:  TREATMENT AND PROGNOSIS:  Transsphenoidal surgery to remove the pituitary adenoma is the primary treatment.  Conservative curettage and bone recontouring  Conventional or radiosurgery, used especially in may be performed if necessary to improve recurrent or persistent cases. function, prevent debility, or address cosmetic  Somatostatin receptor ligands (e.g., octreotide). concerns. OSTEOPETROSIS  DIFFERENTIAL DIAGNOSIS: Osteopetrosis, also known as Albers-Schönberg disease, o Includes osteomalacia, Paget’s disease, is a rare hereditary bone condition clinically hyperparathyroidism, acromegaly, and characterized by a generalized symmetric increase in malignant bone disease. skeletal density due to defective bone resorption. OSTEOGENESIS IMPERFECTA  Etiology Osteogenesis imperfecta represents a genetically and  Osteopetrosis, also known as Albers-Schönberg phenotypically heterogeneous group (nine major disease, is a rare hereditary bone disorder subtypes) of heritable defects of connective tissue with characterized by increased skeletal density due an estimated incidence of 1:20,000 births to defective bone resorption.  Etiology:  PATHOGENESIS  Genetic disorder with mutations in collagen o Reduced osteoclastic activity despite genes (COL1A1 and COL1A2). increased osteoclast numbers.  Autosomal dominant and autosomal recessive o Lack of bone resorption due to inheritance patterns. insufficient acid secretion by osteoclasts.  Pathogenesis: o Results in increased bone mass and skeletal disturbances like sclerosis of the  Defects in collagen synthesis or structure lead to bone marrOW fragile bones.  Abnormal bone formation and increased fracture  CLINICAL FEATURES: risk due to impaired bone matrix integrity.  Bone pain.  Clinical Features:  Cranial nerve compression leading to blindness, deafness, anosmia, ageusia, and facial paralysis.  Type I: Osteoporosis, bone fragility, blue  Normal bone is replaced by dense, poorly sclerae, structured, and fragile bone, prone to pathologic  Type II: Severe bone fragility, short stature, fractures. broad thighs,  Delayed eruption of teeth.  Type III: Severe bone fragility, multiple  Premature exfoliation due to periodontal fractures, ligament defects.  Type IV: Osteopenia, bone fragility, bluish  Malformed and unerupted teeth. sclerae at birth,  Enamel hypoplasia and increased caries index.  Bone-within-bone presentation due to defective  Histopathology: metaphyseal remodeling.  Mandible less frequently involved compared to  Bone Structure: Disrupted collagen matrix other bones. leading to brittle bones.  HISTOPATHOLOGY:  Differential Diagnosis: o Normal bone production with defective  Osteomalacia resorption.  Paget’s disease o Disrupted endochondral bone formation.  Hyperparathyroidism  Acromegaly  TREATMENT AND PROGNOSIS:  Malignant bone disease o Potential treatments include in utero  Treatment: stem cell therapy, o Bone marrow transplantation has been  Bisphosphonates to improve bone density. used to provide osteoclast precursors.   Fracture management, physical therapy, surgery  TREATMENT: for deformities and kyphoscoliosis.  Management of dentinogenesis imperfecta with  Genetic Counseling: Important for potential full crown coverage. understanding inheritance and management.  Genetic counseling and patient support groups  Surgical extraction of supernumerary and for emotional support. overretained primary teeth, surgical exposure of unerupted teeth, orthodontic treatment. CLEIDOCRANIAL DYSPLASIA  Protective headgear, orthognathic surgery for facial deformity correction, and prosthetic Cleidocranial dysplasia (CCD) is notable for aplasia or rehabilitation for severe cases. hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous CROUZON’S SYNDROME (CRANIOFACIAL supernumerary and unerupted teeth. DYSOSTOSIS)  ETIOLOGY: Crouzon’s syndrome is characterized by variable degrees of cranial deformity, maxillary hypoplasia, and  Autosomal dominant inheritance with high shallow orbits with exophthalmos and divergent penetrance; recessive form reported. strabismus  Caused by mutations in the RUNX2 gene, which regulates bone differentiation.  ETIOLOGY  PATHOGENESIS:  Inheritance: Autosomal dominant with complete penetrance and variable expressivity.  Intramembranous and endochondral bones affected, leading to abnormal skull and clavicle PATHOGENESIS: development.  Delayed closure of fontanelles and sutures,  Premature fusion of cranial sutures leads to resulting in cranial deformities. increased intracranial pressure, cranial  Deficiency in clavicle formation contributes to deformities, shallow orbits, and exophthalmos. long neck and narrow shoulders.. Distorted cranial base impacts maxillary growth and nasopharyngeal development.  CLINICAL FEATURES:  CLINICAL FEATURES:  Large head, brachycephalic with prominent frontal and parietal bossing, hypoplastic facial  Froglike facies, midface hypoplasia, bones, and maxillary hypoplasia. exophthalmos, relative mandibular prognathism,  Unerupted supernumerary teeth, delayed parrot-like nose, short upper lip, drooping lower eruption of permanent teeth, hypoplastic enamel, lip. taurodontia.  Severe maxillary hypoplasia, narrow maxillary  Short stature, drooping shoulders, long neck, arch, high-arched palate, bilateral posterior hypoplastic clavicles, potential kyphoscoliosis, lingual cross-bites, anterior open bite. and pelvic defects.  HISTOPATHOLOGY:  HISTOPATHOLOGY:  Obliterated sutures, compensatory cranial  Delayed cementum formation, presence of deformities. supernumerary teeth, hypoplastic enamel.  DIFFERENTIAL DIAGNOSIS:  DIFFERENTIAL DIAGNOSIS:  Pfeiffer syndrome and Apert syndrome.  Conditions to Consider: Osteogenesis imperfecta, Marfan syndrome, other craniofacial  TREATMENT: dysplasias.   May include artificial sutures to manage The clinical