Inherited Oral Diseases

Disorders Affecting Periodontium/Gingiva

Papillon-LeFvre Syndrome
Cyclic Neutropenia
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-LeFvre 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-LeFvre 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-Lefvre
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

Cherubism
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;
hypertelorism; broad
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, highhigh-arched palate
with increased prevalence of cleft palate

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; fullfull-mouth extractions with denture construction;
removal of primary and supernumery teeth followed by
exposure and orthodontic treatment of permanent teeth

Crouzon Syndrome (Craniofacial Dysostosis)

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

Aperts Syndrome (Acrocephalosyndactyly

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

TreacherTreacher-Collins Syndrome (Mandibulofacial

(Mandibulofacial Dysostosis)
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,
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

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

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
(von Recklinghausen disease of the skin)
Diagnostic criteria (2 or more needed)
Six or more caf au lait macules over 5mm in
prepubertal and 15mm in postpubertal
Two NFs or one plexiform NF
Axillary freckles (Crowes 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

Neurofibromatosis
(von Recklinghausen disease of
the skin)
Oral lesions
NFs anywhere
Enlargement of fungiform papillae
Enlargement of mandibular foramen
Enlargement of the mandibular canal

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Multiple Endocrine Neoplasia,

Type IIB

Multiple Endocrine Neoplasia, Type

IIB
MEN I: tumors of pancreatic islets, adrenal
cortex, parathyroid glands and pituitary
gland
MEN IIA: Sipple syndrome,
pheochromocytomas and medullary
thyroid carcinoma
MEN IIB: MEN IIA and mucosal neuromas

A.D.; 50% new mutations

Mutation of ret proto-oncogene, chr.10
Marfanoid phenotype
Narrow face, thick lips, everted upper eyelid
Neuromas on conjuctiva, eyelid margin or cornea
Oral lesions may be the first sign
Lips, anterior tongue, buccal mucosa, gingiva,
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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PeutzPeutz-Jeghers Syndrome

Peutz-Jeghers syndrome

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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Amelogenesis Imperfecta

General Information
Classification is impractical for clinicians
Problems arise in one or more of the
three stages of enamel formation
Elaboration of enamel matrix; hypoplastic
Mineralization; hypocalcified
Maturation; hypomaturation

General Information

Absence of systemic disorder

Can be part of a syndrome
Many types
Different modes of inheritance
Understanding of molecular events
1:800 1:15,000 (clustering)
Both dentitions

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Hypoplastic type

Hypoplastic type

Inadequate deposition of organic matrix

Normal mineralization
Radiographic contrast
Seven types

Generalized Pitted

A.D.
Pinpoint/head pits in rows or columns
In-between enamel normal
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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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

crystals
Normal shape
Mottled appearance
White, yellow or brown
Enamel is soft
Radiodensity similar to dentin

Hypomaturation Type
Diffuse Pigmented A.D.

Mottled brown
Chipping from dentin with an explorer
Very uncommon anterior open bite
Soft similar to hypocalcified
Calculus

Hypomaturation Type
Diffuse Pigmented A.D.

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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

Hypocalcified Type

Snow-capped Teeth

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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Osteogenesis Imperfecta
Heterogeneous group of disorders characterized by impairment
of collagen maturation
Mutations in type I collagen gene
Most common type of inherited bone disease
Collagen forms a major portion of bone, dentin, sclerae,
sclerae,
ligaments, and skin
Autosomal dominant, autosomal recessive hereditary; sporadic
Severity varies

Osteogenesis Imperfecta
Weak bones, blue sclera, altered teeth, hearing loss,
long bone and spine deformity and joint hyperextension
Radiographic features include osteopenia, bowing,
deformity of long bones and multiple fractures
Oral manifestations are clinically similar to dentinogenesis
imperfecta premature pulpal obliteration
Shell teeth can also be noted
However the two are different processes caused by different
mutations
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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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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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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