Faleh Sawair: BDS, FDS RCS (England), Ph.D.

Professor in Oral Pathology

& Medicine

http://elearning.ju.edu.johttp://elearning.ju.edu.jo

References & Supporting Material

Strongly recommended:

Oral Pathology: Soames & Southam, 4th edition 2005.

Also recommended:

• Essentials of Oral Pathology & Oral Medicine: Cawson & Odell; 8th edition

2008.

• Contemporary Oral & Maxillofacial Pathology: 2nd edition 2003.

• Oral & Maxillofacial Pathology: 3rd edition 2008.

Developmental disturbances

of the oral regionDefinitions: Congenital, Hereditary, Genetic, Autosomal, Sex-liked, Dominant, Recessive, Developmental, Acquired.

Classification

Prof F. SawairProf F. Sawair

Developmental Disturbances of soft tissue

Lip pits:1- Commissural: common 1-20%, ↑adults

Autosomal D: in some cases

Uni/bilateral blind tracts at angle of lip, up to 4 mm

Saliva

Preauricular pits

2- Paramedian lip pits: as deep as 2 cm

Van Der Woude Syndrome: AD; PLP + Cleft lip/palate

Popliteal pterygium syndrome: AD

In some cases, missing teeth.

Horizontal folds of mucosal tissue

Inner aspect of U > L lip

Ascher syndrome:

Double lip: usually

congenital

+ Goitre and edema and dropping of upper U eyelids

Blepharochalasis

Other causes of double lip

Frenal Tag: Autosomal D U labial

frenum Significance

Fordyce granules: Collection of sebaceous glands

Mostly bilateral on BM

Clin: multiple yellowish structures (1-2m), puberty

Present histologically in infants

Sebaceous naevi

Hist: superficial; no hair

Glands (1-5 lobules)

that empty into a duct

that opens on the

mucosal surface.

PrognosisHyperplasia

Tumors

Their relation with:

• Gender

• Skin type

• Systemic disease

Oral tonsils: Slightly elevated reddish

plaques/FOM

Foliate Papillitis:

Cancer

Slightly raised area, about 2-4 mm, often bilaterally Commonly located lingual to the cuspids Attached gingiva ≈ incisive papilla Histologically:

A focus of fibrovascular tissue With an orthokeratinized /parakeratinized surface Covers the osseous foramen of a nutrient blood

vessel

Retrocuspid Papilla

Ankyloglossia “tongue-tie”: Congenital Short, thick & anteriorly positioned lingual

frenum Complications:

• Less common in

adults

• Age of surgery

Microglossia: isolated cases or

In most reports + Malformations in the hands (no

digits) & feet (oromandibular-limb hypogenesis syndrome)

Cleft palate Dental agenesia (lower

incisors).

……Aglossia

Macroglossia: Protruding & scalloped

Complications: Noisy breathing, snoring, drooling,

feeding difficulties.

Glossitis

Congenital: • Idiopathic muscular hypertrophy• Down syndrome• Hamartoma• MEN III• Lingual thyroid• Transient neonatal DM • Cretinism• Rare syndromes

Acquired: • Inflammation/infection/trauma• Neurofibromatosis• Amyloidosis, Sarcoidosis• Acromegaly• Hypothyroidism • Allergy• Ca

True:

Edentulous patient

Pseudo/relative: force the tongue to sit in an

abnormal position:

Enlarged tonsils and/or adenoids

Low palate and ↓ oral cavity volume

Transverse, vertical, or AP deficiency in the

maxilla or mandible

Severe mandibular deficiency (retrognathism)

Hypotonia of the tongue

Bifid Tongue

Cleft tongue

Ankyloglossia

TTT: Surgery

Aetiology

Lingual thyroid nodule:

Thyroid tissue at mid-posterior dorsum of tongue Failure of migration Clinically: 2-3cm smooth sessile mass Apparent during puberty or adolescence Complications: Hist:

≈ 70%: no thyroid tissue in neck.

33%: Hypothyroidism (cause of enlargement)

Diagnosis:

Thyroid scan using iodine isotopes or technetium 99m.

CT & MRI: size and extent of lesion.

Biopsy: avoided (bleeding & ≈ source hormone).• Parathyroid• What happens if you give thyroxin

Fissured tongue: Deep fissures may be seen in children or adults

but ↑ with age Clustering in families Prevalence: worldwide varies but as high as

21%. Complications: In 20% of cases associated with geographic

tongue: same gene Down syndrome & Melkersson-Rosenthal

SyndromeAcquired cases

Geographic tongue (Benign Migratory Glossitis): Filiform papillae Clin: appearance, Prevalence (3%), age & +FH Migrate & periods of remission Asymptomatic but acidic & spicy food

Hist: Edge: hyperparak, acanthosis & a dense AICI Centre: atrophy & CICI

Association: fissured tongue, psoriasis (in 10%), Reiter syndrome

Neutrophilic infiltration

Other sites: Migratory stomatitis

• Tongue involved

Median Rhomboid Glossitis: CPA

Appearance & site Origin: Tuberculum Impar vs. Candida Hist:

Not all cases improve with antifungal therapy or show initial evidence of fungal infection

Kissing lesion

Etiology: most recent evidence

Biopsy?

Disturbances in the size of teeth:

Developmental disturbances of teeth

Tooth size is variable among different races and between sexes

Microdontia

Localized: Peg-shaped laterals & U 3rd Ms Generalized: True vs. relative

Macrodontia Localized: isolated, hemifacial hypertrophy Generalized: true vs. relative

Anodontia Hypodontia

3rd Ms (20-25%); L 2nd

PM; U 2

Symmetrical or

haphazard

Pmt > PryEtiology: unclear Hereditary component Msx1 and Pax9 control genes Maternal age, LBW, Rubella, radiation, chemotherapy,

idiopathic hypoparathyroidism

Disturbances in number

• Prevalence of hypodontia in primary

dentition?

• Which primary teeth are most

commonly affected?

• What happen to their successional

teeth?

Oligodontia?

Association with systemic defects

Ectodermal DysplasiaX-linked recessive trait

Cleft lip/palate

Crouzon's Syndrome

Down’s syndrome

Chondroectodermal dysplasia

Other syndromes?

Multiple missing teeth→ syndromes?

Supernumerary

Other sites: Paramolars & Distomolars

Mesiodens

Hyperdontia: single 80%, 2 in ≈ 20%, >= 3 in < 1% of cases

Pmt > Pry

1-3% of population 80-90% in maxilla 25% erupt

How do they develop

1/3 of supernumerary teeth in primary are followed by supernumerary permanent teeth

Timing of their formation

The presence of a supernumerary

tooth is the most common cause for the

failure of eruption of a maxillary central

incisor.

Supplemental

Association with systemic defects:

Cleidocranial Dysplasia Gardner Syndrome Cleft lip/palate

Supernumerary teeth

developing in sites other

than the jaws?

Dental Transposition? and confusion hyperdontia

Disturbances in the form of teeth:

Double teeth (Connated teeth): Joined by C, R or both Primary mandibular incisors Aetiology:

Gemination Fusion

or

Taurodontism Elongated crown w apically placed furcation Aetiology: Rarely: w craniofacial anomalies or XXY

syndrome

Pmt Ms

Concrescence Acquired Upper Pmt Ms Follows hypercementosis Complications:

Before or after eruption

Dilaceration Sharp bend of root Upper centrals Aetiology & complications

Disturbances in the structure of

teeth:

Enamel:

Hypoplastic vs. Hypomineralized Defect depends on many factors Types depending on extent

Focal enamel hypoplasia:

Aetiology: Idiopathic:

Infection/Trauma:

Radiotherapy Turner teeth

Enamel opacities

Labial surface

Generalized enamel hypoplasia: Systemic disturbances

including: Nutritional deficiencies: e.g. Vit D Infections Maternal disease & premature birth Haemolytic disease of newborn Congenital heart disease Chemotherapy Excess fluoride Endocrine disease GIT disease

Congenital syphilis

“Hutchinson incisors” “Mulberry molars”

Affect primary teeth?

Excess Fluoride Mostly PM, U incisors & 2nd Ms Fluoride mottling:

Mild: smooth E w white patches or striations

Severe: yellow/brown/black E w pits & grooves

Optimum level of F

Hereditary Disturbances

(genetic): Affecting only teeth:

Amelogenesis Imperfecta

Generalized defects including

teeth:

Ectodermal Dysplasia

Down syndrome

Amelogenesis Imperfecta Inheritance: Autosomal dominant, recessive, X-

linked.

Most of …..Enamel …….on all teeth

………..in both dentitions

Other components of teeth are normal Not associated with other health problems

Mutations in the ENAM, MMP20, KLK-4 and AMELX (5%) genes cause amelogenesis imperfecta

Researchers have described at least 16

forms of AI. Distinguished by their

specific dental abnormalities and by

pattern of inheritance.

Incidence: 1 in 700 (Sweden) to 1 in 15,000 (USA)

Are there any reported cases of

amelogenesis imperfecta with no

family history of the disorder?

Hypoplastic type: Thin E but normally mineralized (>D in

radiodensity)

All E smooth teeth

with needle-like cusps

Not all E general

roughness w pitting &

vertical grooves

Stains

Hypomineralized/hypomaturation type:

Most common form

E of normal thickness Newly erupted: normal size & shape of teeth Opaque, brown-yellow E soft chalky and easily removed → gross attrition E = D in radiodensity

Dentine:

Local causes: Turner teeth,

radiotherapy

General causes:

Systemic disturbances:o Rickets:

preD, hypocalcified w in interglobular D

o Hypophosphataemia:

in interglobular D, large pulp chambers &

long pulp horns with cracked E

o Hypophosphatasia:

preD, in interglobular D, large

pulp chambers

o Juvenile hypoparathyroidism:

Small teeth w hypoplastic E and short roots

Prominent incremental lines in D

o Cytotoxic agents: Prominent incremental lines in D

Dentinogenesis Imperfecta:

Type I:

o Patients with Osteogenesis Imperfecta

o Autosomal dominant

Type III: Brandywine isolate:

Rare, isolated (Maryland)

Mutation in the DSPP gene

Type II: (Hereditary opalescent dentine) Autosomal dominant but no OI

Bluish-gray, brown/yellowish

Both dentitions

الكهرمان

Amber

Radiographs:

Short, blunt root

Obliteration of pulp with D

Bulbous crowns

↑ Root fracture

Histologically: Normal E Normal mantle D Rest of D: hypomineralized w , irregular, wide D tubules often devoid of odontoblastic processes.

Originally it was thought that a defective DEJ was

present; SEM studies have disclosed a normal

junction.

There is a tendency for enamel loss, and the

cleavage of enamel likely occurs within defective

dentin underlying the DEJ. Soft D attrition

Which is more

common DI or AI

Dental Caries Tooth Sensitivity Crowning of teeth/timing

Dentine Dysplasia:

o Autosomal dominant

o Two types:

Type I (Radicular Dentine

Dysplasia):

Most common

Normal crowns

Radiographs:

Short, blunt, conical or absent roots

Obliterated pulp chambers & RC

Or pulp chamber is "crescent shaped".

Periapical radiolucencies but no caries

Histologically:

Radicular dentine: Numerous calcified spherical bodies

→“water streaming round boulders”

Complications

Type II (Coronal Dentine Dysplasia):

Roots are normal

Primary teeth:

DI clinically

Obliterated pulp chambers

Permanent teeth:

Normal color

Thistle-tube pulp chambers w pulp

stones

Regional Odontodysplasia: Unknown etiology Regional Anterior maxilla Delay or failure of eruption Irregular & hypoplastic enamel

D is thin with interglobular D Pulp stones and widely open apices Focal calcifications in the dental follicle Radiographs: Ghost teeth

Hypercementosis: Periapical inflammation

Occlusal forces

Paget’s disease,

Hyperpituitarism

Idiopathic

Hypocementosis: Cleidocranial Dysplasia: CC

Hypophosphatasia: Aplasia

Cementum

Premature

eruption: Natal & neonatal

teeth

Disturbances in eruption & shedding of teeth:

Premature loss of primary tooth

Hyperthyroidism & Gigantism

Delayed eruption/retarded eruption: Retained primary Hypothyroidism

& hypoparath Crowding Nutritional :

vitamin D, anemia

Fibrosis Down syndrome Supernumerary/cyst/tumor Cleid Dysplasia Trauma Prematurity

Premature loss: Caries & periodontal disease Hypophosphatasia Palmar-Plantar hyperkeratosis Juvenile onset diabetes, Cyclic neutropenia & agranulocytosis, Scurvy, and Dentin dysplasia

3. Developmental Disturbances of Bone:

Facial Hemihypertrophy (hyperplasia):

Significant unilateral enlargement of the face Aetiology: ↑ NV supply Associated: skin, hypertrichosis, mental

retardation (20%), Abdominal tumors 6% (Wilms tumor, adrenal, or liver).

D. Dx: Neurofibromatosis Fib. Dysplasia A-V malformation

Intraoral: unilateral macroglossia, teeth, malocclusion

Premature formation and eruption

Throughout life

B. Hemifacial atrophy: (Romberg

Syndrome) Progressive unilat in face size (other parts) Onset: 1st or 2nd decade

2.5 ys 5 ys 11 ys

Aetiology Associated: hyperpigmentation & loss of facial hair Intraoral: lips & tongue, alveolar bone, teeth

(delay, short roots)

C) Cleft Lip & palate: Cleft lip: Median nasal & maxillary process

Nostril complete or incomplete

Complete alveolar process & teeth

M > F; 25% of cases; 80% uni; 70% on L side

Cleft palate: Lateral portions of palate Degree F>M; 30% of cases

Cleft lip & palate: M>F; 45% of cases

Bifid uvula: • Common in Asians and native Americans.

• Aetiology:

Hereditary: 40% of CL & 20% of CP

Environmental: Nutritional factors

Large tongue Toxins Infections Stress Ischemia

Alcohol Drugs

What is the percentage of clefts associated with syndromes?

Which syndrome is the most common syndrome associated with Orofacial clefting?

Median cleft of upper lip

Lateral facial cleft