1. Disorders Affecting Periodontium/Gingiva
• Papillon-LeFèvre Syndrome
• Cyclic Neutropenia
Inherited Oral Diseases Disorders affecting Oral Mucosa
• Hereditary Hemorrhagic Telangiectasia
Disorders affecting Jaw bones and • Multiple Endocrine Neoplasia
Facies Syndrome IIB
• Cherubism • Neurofibromatosis
• Cleidocranial dysplasia • Peutz-Jeghers Syndrome
• Gardner syndrome • White Sponge Nevus
• Mandibulofacial dysostosis
(Treacher-Collins syndrome) Disorders of Teeth
• Nevoid basal cell carcinoma • Amelogenesis Imperfecta
syndrome • Dentinogenesis Imperfecta
• Osteogenesis Imperfecta • Dentin Dysplasia
• Aperts Syndrome • Hypohidrotic ectodermal dysplasia
• Crouzon Syndrome • 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
Papillon-LeFèvre Syndrome
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
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2. Cherubism Cherubism
Radiographic features
• Autosomal dominant
• Multilocular radiolucency with massive expansion
• Facial appearance similar to “cherub”-like
• Both erupted and unerupted teeth are randomly distributed
• 2 – 5 yrs of age
• After stabilization, lesions exhibit a “ground glass” appearance
• The clinical alterations typically progress until puberty,
Histopathology
stabilize and slowly regress
• Similar to giant cell granuloma
• Bilateral involvement of the posterior mandible – most
• But clinical and radiographic correlation necessary
common appearance – “cherub”-like (all 4 quadrants)
• Vascular fibrous tissue and giant cells (smaller and
• “Eyes upturned to heaven” appearance – due to involvement
more focal)
of the infraorbital rim and orbital floor
• Eosinophilic cuffing around blood vessels
• Painless bilateral expansion of the post. mand.
Treatment
• Marked widening and distortion of alveolar ridges
• Prognosis is unpredictable
• Tooth displacement and eruption failure
• Delayed till after puberty (curettage)
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3. 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; broad
hypertelorism;
base 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
high-
with increased prevalence of cleft palate
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4. Cleidocranial Dysplasia
Presence of numerous unerupted permanent and
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
Treatment:
No treatment; full-mouth extractions with denture construction;
full-
removal of primary and supernumery teeth followed by
exposure and orthodontic treatment of permanent teeth
Crouzon Syndrome (Craniofacial Dysostosis)
Dysostosis)
Craniosynostosis: Premature closure of sutures
Craniosynostosis:
Mutation in FGFR2; 1 in 65,000 births; AD
Wide variation in clinical presentation: Brachycephaly;
Brachycephaly;
scaphocephaly; trigonocephaly; “cloverleaf” skull (kleeblattschädel)
scaphocephaly; trigonocephaly; cloverleaf” (kleeblattschädel)
Ocular proptosis: blindness and hearing deficit
proptosis:
Headaches; normal intelligence
Underdeveloped maxilla: Midface hypoplasia; crowding of
maxillary teeth; bifid uvula
“Beaten metal” skull in radiographs
metal”
Surgical treatment
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5. Aperts Syndrome (Acrocephalosyndactyly)
(Acrocephalosyndactyly)
Craniosynostosis syndrome
Mutation in FGFR2; 1 in 65,000 to 160,000 births, AD
Acrobrachycephaly (tower skull); kleeblattschädel (severe cases)
kleeblattschä
Ocular proptosis; hypertelorism; vision loss; “beaten metal”
proptosis; hypertelorism; metal”
radiographs
Midface hypoplasia; ‘V”-shaped arch “open-mouth” feature;
open- mouth”
hearing loss
SYNDACTYLY of the 2nd, 3rd and 4th digits; MENTAL RETARDATION
Pseudo cleft palate due to swellings (accumulation of glycos-
glycos-
aminoglycans) of the lateral hard palate and crowding of
aminoglycans)
maxillary teeth; bifid uvula
Surgery
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6. Treacher-Collins Syndrome (Mandibulofacial Dysostosis)
Treacher- (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
pinnae,
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
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7. Multiple Nevoid Basal Cell
Carcinoma Syndrome (Gorlin
Syndrome)
• A.D.; high penetrance, variable expressivity
• patched mutation, chr. 9
• Chief characteristics: multiple basal cell
carcinomas, odontogenic keratocysts,
epidermal cysts, palmar/plantar pits, calcified
falx cerebri, rib anomalies, hypertelorism
• Less common: strabismus, kyphoscoliosis,
CNS tumors
Multiple Nevoid Basal Cell
Carcinoma Syndrome (Gorlin
Syndrome)
• Face: Frontal and temporoparietal bossing
(big head), hypertelorism, mild mandibular
prognathism
• Skin: Basal cell carcinomas even in children
and adolescence, often on non-sun exposed
skin, few to hundreds; plantar and palmar
pits (retardation of the epithelial growth)
• Skeletal: bifid ribs, kyphoscoliosis
• More than one odontogenic keratocysts
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9. 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
Neurofibromatosis Neurofibromatosis
(von Recklinghausen disease of the skin) (von Recklinghausen disease of
• Diagnostic criteria (2 or more needed) the skin)
– Six or more café au lait macules over 5mm in
prepubertal and 15mm in postpubertal
– Two NFs or one plexiform NF • Oral lesions
– Axillary freckles (Crowe’s sign) – NFs anywhere
– Optic glioma – Enlargement of fungiform papillae
– Lisch nodules (brown pigmented spots of the iris)
– Enlargement of mandibular foramen
– Distinct osseous lesions (thinning of long bone cortex)
– Enlargement of the mandibular canal
– 1st degree relative with 2 or more of these findings
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11. Multiple Endocrine Neoplasia, Type Multiple Endocrine Neoplasia,
IIB Type IIB
• MEN I: tumors of pancreatic islets, adrenal • A.D.; 50% new mutations
cortex, parathyroid glands and pituitary • Mutation of ret proto-oncogene, chr.10
gland • Marfanoid phenotype
• Narrow face, thick lips, everted upper eyelid
• MEN IIA: Sipple syndrome, • Neuromas on conjuctiva, eyelid margin or cornea
pheochromocytomas and medullary • Oral lesions may be the first sign
thyroid carcinoma – Lips, anterior tongue, buccal mucosa, gingiva,
• MEN IIB: MEN IIA and mucosal neuromas palate, bilateral commissural neuromas
Multiple Endocrine Neoplasia,
Type IIB
• Pheochromocytoma
– Secretion of catecholamines
– Sweating, diarrhea, headaches, flushing,
heart palpitations and hypertension
• Medullary carcinoma of the thyroid
– Calcitonin production
– Highly metastatic
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13. Peutz-Jeghers syndrome
Peutz-Jeghers Syndrome
Peutz-
Autosomal Dominant
Multiple perioral and oral ephelides or melanotic macules
Intestinal polyposis
Considered hamartomas but have minimal neoplastic
potential (2 to 3% adenocarcinoma)
adenocarcinoma)
Small intestine (jejunum)
Abdominal pain, rectal bleeding and diarrhea
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14. Amelogenesis Imperfecta
General Information General Information
• Classification is impractical for clinicians • Absence of systemic disorder
• Problems arise in one or more of the • Can be part of a syndrome
three stages of enamel formation
• Many types
– Elaboration of enamel matrix; hypoplastic
– Mineralization; hypocalcified • Different modes of inheritance
– Maturation; hypomaturation • Understanding of molecular events
• 1:800 – 1:15,000 (clustering)
• Both dentitions
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15. Hypoplastic type
Hypoplastic type
Generalized Pitted
• Inadequate deposition of organic matrix • A.D.
• Normal mineralization • Pinpoint/head pits in rows or columns
• Radiographic contrast • In-between enamel normal
• Seven types • Across the surface
• Buccal surface more severely affected
• Does not correlate with pattern of
environmental damage
Hypoplastic type Hypoplastic type
Generalized Pitted Generalized Pitted
Hypoplastic type
Diffuse Smooth A.D.
• Thin, hard, glossy
• Like crown preparations, open bite
• Opaque white to brown
• X-ray: peripheral thin enamel outline
• Unerupted exhibit resorption
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16. Hypoplastic type Hypoplastic type
Diffuse Smooth A.D. Diffuse Smooth A.D.
Hypomaturation Type Hypomaturation Type
Diffuse Pigmented A.D.
• Defect in the maturation of enamel
• Mottled brown
crystals
• Chipping from dentin with an explorer
• Normal shape
• Very uncommon anterior open bite
• Mottled appearance
• Soft similar to hypocalcified
• White, yellow or brown
• Calculus
• Enamel is soft
• Radiodensity similar to dentin
Hypomaturation Type Hypomaturation Type
Diffuse Pigmented A.D. Diffuse Pigmented A.D.
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17. Hypomaturation Type Hypomaturation Type
Snow-capped Teeth Snow-capped Teeth
• X-linked, A.D.?
• Zone of white opaque enamel on incisal and
occlusal surface (1/4 to 1/3 of the surface)
• Looks like fluorosis
• Anteriors, anteriors/bicuspids,
premolars/molars
• Both dentitions
Hypomaturation Type
Snow-capped Teeth Hypocalcified Type
• A.D. or A.R. (more severe)
• No significant mineralization
• Normally shaped teeth at eruption
• Enamel very thin and easily lost
• Yellow or brown color
• Calculus
• Open bite
Hypocalcified Type Amelogenesis Imperfecta
Treatment
• Restorations as soon as possible
• Dentures (overdentures)
• Veneers in mild cases
• Glassionomers for better adhesion to
dentin
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18. Osteogenesis Imperfecta Osteogenesis Imperfecta
Weak bones, blue sclera, altered teeth, hearing loss,
Heterogeneous group of disorders characterized by impairment long bone and spine deformity and joint hyperextension
of collagen maturation
Radiographic features include osteopenia, bowing,
Mutations in type I collagen gene deformity of long bones and multiple fractures
Most common type of inherited bone disease Oral manifestations are clinically similar to dentinogenesis
imperfecta – premature pulpal obliteration
Collagen forms a major portion of bone, dentin, sclerae,
sclerae,
ligaments, and skin Shell teeth can also be noted
Autosomal dominant, autosomal recessive hereditary; sporadic However the two are different processes caused by different
mutations
Severity varies
Opalescent teeth if associated with OI
Maxillary hypoplasia
Osteogenesis Imperfecta
Four major types of OI
Type I: Most common and mildest form
Type II: Most severe; patients die before 4 weeks of age
Type III: Most severe form beyond the perinatal age
Type IV: Mild to moderate form
Treatment: No treatment of OI
Varied prognosis
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19. Shell Teeth
Hypophosphatasia
• Autosomal recessive trait
• Decreased alkaline phosphatase
• Increased blood and urinary phosphoethanolamine
• Bone defects similar to rickets
• Premature loss of primary teeth without evidence of
inflammatory response
– No cementum on teeth
Perinatal: most severe
Infantile: normal till 6 months; failure to grow after that (severe)
Childhood: usually detected at later age; teeth defects with enlarged pulp
chambers; open fontanelles with premature fusion of cranial sutures
Adult: mild
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20. Vitamin D-Resistant Rickets
(Hereditary Hypophosphatemic Rickets)
Rickets resistant to vitamin D
Inherited as X-linked dominant trait
Males affected more severely than females
Mutations in PHEX gene
Rickets, hypophosphatemia due to decreaed capacity to reabsorb phosphate
Teeth with large pulp chambers with pulp horns that extend almost
to the DE junction leading to very small pulp exposures leading to multiple
Periapical lesions and gingival sinus tracts
It will as though periapical lesions on otherwise normal teeth as the
exposures are so tiny
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