Inherited Oral Diseases

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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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