Showing posts with label ORAL PATHOLOGY. Show all posts
Showing posts with label ORAL PATHOLOGY. Show all posts

Inherited Oral Diseases


Inherited Oral Diseases
Disorders Affecting Periodontium/Gingiva
• Papillon-LeFèvre Syndrome
• Cyclic Neutropenia
Disorders affecting Jaw bones and Facies
• Cherubism
• Cleidocranial dysplasia
• Gardner syndrome
• Mandibulofacial dysostosis(Treacher-Collins syndrome)
• Nevoid basal cell carcinoma syndrome
• Osteogenesis Imperfecta
• Aperts Syndrome
• Crouzon Syndrome
Disorders affecting Oral Mucosa
• Hereditary Hemorrhagic Telangiectasia
• Multiple Endocrine Neoplasia Syndrome IIB
• Neurofibromatosis
• Peutz-Jeghers Syndrome
• White Sponge Nevus
Disorders of Teeth
• Amelogenesis Imperfecta
• Dentinogenesis Imperfecta
• Dentin Dysplasia
• Hypohidrotic ectodermal dysplasia
• Hypophophatasia
• Vitamin D deficient rickets

Papillon-LeFèvre Syndrome


• Autosomal Recessive
• Cathepsin C gene mutation which affects the immune response to infection
• Hyperkeratosis of the palms and feet
• Sometimes elbows and knees
• Dramatic periodontitis (periodontoclasia) of both dentitions
– Floating teeth
– DD: Langerhans’ cell disease
Teeth erupt in normal sequence, position and time
1.5 to 2 years, a severe gingivo-periodontal inflammatory process develops
Edema, bleeding, alveolar bone resorption, and mobility of teeth with consequent exfoliation
Teeth are lost in the sequence they are erupted. After loss of last teeth, gingiva regains a normal appearance
Permanent teeth are lost before 14 years
Peripheral blood neutrophil is depressed in all patients with Papillon-Lefèvre suggesting that neutrophils are important factor in pathogenesis of severe periodontal disease
Treatment
Retinoid therapy:  Improves the skin condition but not the periodontal therapy
Periodontal condition:  No effective treatment
Cherubism

• Autosomal dominant
• Facial appearance similar to “cherub”-like
• 2 – 5 yrs of age
• The clinical alterations typically progress until puberty, stabilize and slowly regress
• Bilateral involvement of the posterior mandible – most common appearance – “cherub”-like (all 4 quadrants)
• “Eyes upturned to heaven” appearance – due to involvement of the infraorbital rim and orbital floor
• Painless bilateral expansion of the post. mand.
• Marked widening and distortion of alveolar ridges
• Tooth displacement and eruption failure
Radiographic features

• Multilocular radiolucency with massive expansion
• Both erupted and unerupted teeth are randomly distributed
• After stabilization, lesions exhibit a “ground glass” appearance
Histopathology

• Similar to giant cell granuloma
• But clinical and radiographic correlation necessary
• Vascular fibrous tissue and giant cells (smaller and more focal)
• Eosinophilic cuffing around blood vessels
Treatment
• Prognosis is unpredictable
• Delayed till after puberty (curettage) 
Cleidocranial Dysplasia

Caused by a defect in Cbfa1/Runx2 gene
Autosomal dominant and sporadic pattern
Bone defects involve the clavicle and skull
Clavicles are absent (unilateral or bilateral) – 10% of cases
Short stature with large heads; ocular hypertelorism; broadbase of nose and depressed nasal bridgebase of nose and depressed nasal bridge
Large heads and parietal bossing
Skull sutures show delayed closure and may remain open
Dental manifestations include narrow, high-arched palate with increased prevalence of cleft palate
Presence of numerous unerupted permanent and supernumery teeth with many distorted crown and root shapes supernumery teeth with many distorted crown and root shapes
Prolonged retention of deciduous teeth and delay or complete failure of eruption of permanent teeth
Histology:
Unerupted permanent teeth lack secondary cementum Unerupted permanent teeth lack secondary cementum
Treatment:
No treatment; full-mouth extractions with denture construction;
removal of primary and supernumery teeth followed by removal by exposure and orthodontic treatment of permanent teeth

Crouzon Syndrome (Craniofacial Dysostosis)

Craniosynostosis: Premature closure of sutures
Mutation in FGFR2; 1 in 65,000 births; AD
Wide variation in clinical presentation: Brachycephaly; scaphocephaly; trigonocephaly; “cloverleaf” skull (kleeblattschädel)
Ocular proptosis: blindness and hearing deficit
Headaches; normal intelligence
Underdeveloped maxilla: Midface hypoplasia; crowding of maxillary teeth; bifid uvula
“Beaten metal” skull in radiographs
Surgical treatment


Aperts Syndrome (Acrocephalosyndactyly)

Craniosynostosis syndrome
Mutation in FGFR2; 1 in 65,000 to 160,000 births, AD
Acrobrachycephaly (tower skull); kleeblattschädel (severe cases)
Ocular proptosis; hypertelorism; vision loss; “beaten metal”radiographs
Midface hypoplasia; ‘V”-shaped arch “open-mouth” feature; hearing loss
SYNDACTYLY of the 2nd, 3rd and 4th digits; MENTAL RETARDATION
Pseudo cleft palate due to swellings (accumulation of glycos-aminoglycans) of the lateral hard palate and crowding of maxillary teeth; bifid uvula
Surgery


Treacher-Collins Syndrome (Mandibulofacial Dysostosis)

Defects of 1st and 2nd BA
AD; 1 in 25,000 to 50,000 births; 60% new mutations
Mutations in the TCOF1 gene
Characteristic face: Hypoplastic zygoma causing narrow face with depressed cheeks and downward slanting palpebral fissures
Coloboma (notch) at the outer portion of lower eyelid
Ears anomalies: Deformed pinnae, extra ear tags, middle ear ossicle defects cause hearing loss
Underdeveloped mandible; condyle and coronoid hypoplasia
Lateral facial clefting and cleft palate
No treatment required in most cases; Cosmetic surgery in severe cases


Neurofibromatosis (von Recklinghausen disease of the skin)

• A.D.; 50% of cases are new mutations; 1:3,000 births
• Many forms
• NF1 most common; chr. 17
• Malignant transformation
• Diagnostic criteria (2 or more needed)
          – Six or more café au lait macules over 5mm in prepubertal and 15mm in postpubertal
          – Two NFs or one plexiform NF
          – Axillary freckles (Crowe’s sign)
          – Optic glioma
         – Lisch nodules (brown pigmented spots of the iris)
         – Distinct osseous lesions (thinning of long bone cortex)
         –1st degree relative with 2 or more of these findings
• Oral lesions
         –NFs anywhere
         – Enlargement of fungiform papillae
         – Enlargement of mandibular foramen
         – Enlargement of the mandibular canal
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SWELLINGS OF THE JAW

Bone Swellings

Bone swellings are lesions that characteristically present as asymptomatic hard lumps, covered by normal epithelium. Developmental disorders, benign and malignant tumors are included in this group of lesions.
  •        Torus mandibularis
  •        Torus palatinus
  •        Multiple exostoses
  •        Osteoma
  •        Osteosarcoma
  •         Chondrosarcoma
  •         Burkitt lymphoma
  •         Multiple myeloma
  •         Paget disease
  •       Odontogenic tumors

Torus Mandibularis
Definition and etiology Torus mandibularis is a developmental malformation of unknown etiology.
Clinical features It presents as an asymptomatic bony swelling, covered by normal mucosa. The lesion displays slow growth during the second and third decades of life. Characteristically, the lesions appear bilaterally on the lingual surface of the mandible, usually in the area adjacent to the bicuspids. The diagnosis is based on clinical criteria.
Torus mandibularis
Treatment Unnecessary unless full denture construction is required.

Torus Palatinus
Torus palatinus at the midline of the hard palate
Definition and etiology Torus palatinus is a developmental malformation of unknown etiology.
Clinical features It presents as a slow-growing, nodular, lobular or spindled, asymptomatic bony swelling covered by normal mucosa. Characteristically, the lesion appears along the midline of the hard palate.It occurs more often in women, and usually appears during the third decade of life. The diagnosis is based on the clinical findings.
Treatment Unnecessary unless full denture construction is required.

Multiple Exostoses
Multiple exostoses may occur on the buccal surface of the maxilla, and rarely on the mandible. Clinically, the lesions appear as multiple asymptomatic bony swellings. The diagnosis is based on the clinical findings.
Multiple exostoses on the maxilla.
Treatment Unnecessary unless full denture preparation is required.

Osteoma
Definition Osteoma is a benign neoplasm that consists of mature compact or cancellous bone.
Etiology Unknown.
Clinical features
It presents as an asymptomatic, slow-growing bony swelling of the jaws. The size ranges from a few millimeters to several centimeters. Multiple jaw osteomas are a common feature of Gardner syndrome.
Gardner syndrome: osteoma of the mandible.
Laboratory tests Histopathological examination, radiography.
Differential diagnosis Exostoses, osteosarcoma.
Treatment Surgical excision.

Osteosarcoma
Definition Osteosarcoma is the most common primary malignant neoplasm of bone.
Etiology Unknown.
Clinical features
The jaws are affected in 6–7% of cases, and usually during the third decade of life. Both jaws are affected equally and it is more common in men. Clinically, the lesion presents as a rapidly growing hard swelling that progressively produces facial deformity. Pain, paresthesia, tooth loosening, and nasal obstruction may also occur.
Osteosarcoma of the upper jaw, presenting as a hard swelling.
Laboratory tests Histopathological examination, radiography, CT scans.
Differential diagnosis Chondrosarcoma, Ewing sarcoma, metastatic tumors, odontogenic tumors and cysts, giant-cell tumor.
Treatment Surgical excision and supplementary radiotherapy and chemotherapy.

Chondrosarcoma
Chondrosarcoma  is more common in men than in women, between 30 and 60 years of age. Clinically, it appears as a painless hard swelling that progressively enlarges, causing extensive bone destruction with pain and loosening of the teeth.

Burkitt Lymphoma
Definition Burkitt lymphoma is a high-grade malignant B-lymphocyte lymphoma.
Etiology Epstein–Barr virus is closely associated.
Clinical features
The malignancy is prevalent in central Africa (the endemic form), and usually affects children 2–12 years of age. Cases have also been observed in other countries (the nonendemic form), and recently in patients with AIDS. The jaws are the most common site of lymphoma (60–70%). Clinically, it presents as a rapidly growing hard swelling that causes bone destruction, tooth loss, and facial deformity.Pain, paresthesia and large ulcerating or nonulcerating masses may also be seen.
Burkitt lymphoma, facial deformity.
Burkitt lymphoma, gingival mass
Burkitt lymphoma on the gingiva in a young patient with AIDS
Laboratory tests Histopathological examination, radiography.
Differential diagnosis Central giant-cell granuloma, ossifying fibroma, other non-Hodgkin lymphomas, and odontogenic tumors.
Treatment Chemotherapy, radiotherapy.

Multiple Myeloma
Definition Multiplemyeloma is a relatively rare malignant plasma-cell disorder.
Etiology Unknown.
Clinical features The malignancy is more common in men over 50 years of age, and the jaws are affected in about 30% of cases. Clinically, it presents with bone swelling, tooth mobility, pain, and paresthesia. A painless soft swelling, usually on the alveolar mucosa and gingiva, may develop as part of the overall disease spectrum.
Multiple myeloma, swelling on the gingiva
Laboratory tests Bone-marrow biopsy, radiography, serum and urine protein electrophoresis.
Differential diagnosis Plasmacytoma, non-Hodgkin lymphoma, Ewing sarcoma, leukemia, Langerhans cell histiocytosis.
Treatment Chemotherapy, radiotherapy.

Paget Disease
Definition Paget disease, or osteitis deformans, is a chronic, relatively common disorder characterized by uncoordinated bone resorption and deposition.
Etiology Unknown.
Clinical features Clinically, the signs and symptoms develop gradually and are characterized by bone pain, headache, deafness, visual disorders, dizziness, and progressive bone enlargement. Progressive expansion of the maxilla and the mandible lead to symmetrical thickening of the alveolar ridges.
Paget disease, enlarged maxilla
Edentulous patients may complain that their dentures do not fit due to alveolar enlargement.
Paget disease, alveolar enlargement
Delayed wound healing, bleeding, and osteomyelitis after tooth extraction may occur. The maxilla is more frequently affected than the mandible. Malesare more often affected than females. Two major forms of the disease are recognized: (a) the monostotic, and (b) the polyostotic. The clinical diagnosis should be confirmed by a histopathological and radiographic examination. Elevations of serum alkaline phosphatase and urinary hydroxyproline levels are common findings.
Differential diagnosis Fibrous dysplasia, osteosarcoma, multiple exostoses, fibro-osseous lesions.
Treatment Most cases require no treatment. Calcitonin and bisphosphonates may slow the pathological process.

Odontogenic Tumors
Definition Odontogenic tumors are a group of lesions that originate from odontogenic epithelium and ectomesenchyme.
Etiology Unknown. Some are neoplasms and others hamartomas.
Classification On the basis of the tissue of origin, three major varieties are recognized: (a) tumors of odontogenic epithelium, (b) tumors of odontogenic ectomesenchyme, and (c) mixedod ontogenic tumors.
Clinical features Most odontogenic tumors are usually asymptomatic for long time and are discovered only during a routine radiographic examination. However, with time they may form a usually painless slow-growing swelling or expansion of the mandible or the maxilla.
Odontogenic myxoma, expansion of the retromolar area
Extraosseous calcifying epithelial odontogenic tumor presenting as a gingival mass
The clinical signs and symptoms are not diagnostic and the final diagnosis should be made by radiographic and histopathological examinations.
Differential diagnosis Different varieties of odontogenic tumors, odontogenic cysts, osteosarcomas, chondrosarcomas, multiplemyeloma.
Treatment Surgical excision.

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SALIVA: TEST YOUR KNOWLEGDE

HOW MUCH DO YOU KNOW ABOUT SALIVA?
TEST YOUR KNOWLEGDE WITH THIS MCQ TEST
MCQ TESTS
Saliva
Composition
Gingival fluid
Gland histology
Gland development
Salivary proteins
Salivary gland
Saliva secretion
Gland abnormalities
Saliva flow
Critical pH
Saliva & oral flora
Tooth pellicle


 OPENS IN NEW WINDOW.
CREDITS:http://www.ncl.ac.uk/dental/oralbiol/oralenv/mcqs/saliva
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ORAL PATHOLOGY : ONLINE ATLAS

DATABASE OF CLINICAL AND HISTOPATHOLOGICAL IMAGES OF ORAL LESIONS




 INDEX OF LESIONS

Addison's disease
Adenoid cystic carcinoma
Aphthous ulcers
Basal cell carcinoma
Candidosis
Carcinoma-in-situ
Condyloma acuminatum
Congenital epulis
Congenital keratosis cyst
Denture Ulcer
Dermoid, epidermoid cyst
Ecchymosis
Ephelis
Epidermolysis bullosa
Epulis fissuratum
Erythema multiforme
Familial epithelial hyperplasia
Fibrin clot
Fordyce granules
Gingival cyst of adult
Granular cell tumor
Hairy tongue
Hand, foot and mouth disease
Heavy metal ingestion
Hemangioma
Hematoma
Herpangina
Herpes
Herpes zoster
Hyperkeratosis
Infectious mononucleosis
Inflammatory papillary hyperplasia
Irritation fibroma
Kaposi's sarcoma
Keratoacanthoma
Lichen planus
Lupus erythematosis
Lymphoepithelial cyst
Lymphoma
Medication
Melanoma
Melanotic Macule - Oral
Mucoepidermoid carcinoma
Mucous membrane pemphigoid
Mucous retention phenomenon
Necrotizing Sialo Metaplasia
Neuroma
Nevus
Nicotinic stomatitis
Papilloma
Pemphigus
Periodontal abscess
Peripheral fibroma
Peripheral giant cell granuloma
Petechiae
Pleomorphic adenoma
Polymorphous low-grade adenocarcinoma
Pyogenic granuloma
Racial pigment
Salivary gland adenocarcinoma
Schwannoma
Sjogrens
Squamous cell carcinoma
Tattoo
Toxic mucositis
Varicella
Varix
Verruca vulgaris


SOURCE: http://www.uiowa.edu

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