Developmental anomalies that affect oral soft tissues, teeth, jaw bones.

1. Faleh Sawair: BDS, FDS RCS (England), Ph.D.
Professor in Oral Pathology & Medicine

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

3. 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.

4. Developmental disturbances
of the oral region
Definitions: Congenital, Hereditary, Genetic,
Autosomal, Sex-liked, Dominant, Recessive,
Developmental, Acquired.
Classification

5. 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

6. 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.

7. 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

8. Other causes of
double lip

9. Frenal Tag:
 Autosomal D
 U labial frenum
 Significance

10. Fordyce granules:
 Collection of sebaceous glands
 Mostly bilateral on BM
 Clin: multiple yellowish structures (1-2m), puberty
Present histologically in infants
Sebaceous naevi

11. Hist: superficial; no hair
 Glands (1-5 lobules) that
empty into a duct that opens on
the mucosal surface.
Prognosis
Hyperplasia
Tumors

12. Their relation with:
• Gender
• Skin type
• Systemic disease

13. Oral tonsils:
 Slightly elevated reddish
plaques/FOM
 Foliate Papillitis:
Cancer

14.  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

15. Ankyloglossia “tongue-tie”:
 Congenital
 Short, thick & anteriorly positioned lingual frenum
 Complications:

16. • Less common in adults
• Age of surgery

17. 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

18. Macroglossia: Protruding & scalloped
Complications: Noisy breathing, snoring, drooling, feeding difficulties.
Glossitis

19. 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

20. 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

21. Bifid Tongue
 Cleft tongue
 Ankyloglossia
 TTT: Surgery
Aetiology

22. 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:

23.  ≈ 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

24. 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 Syndrome
Acquired cases

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

26.  Hist:
 Edge: hyperparak, acanthosis & a dense AICI
 Centre: atrophy & CICI
Association: fissured tongue, psoriasis (in 10%), Reiter syndrome
Neutrophilic infiltration

27.  Other sites: Migratory stomatitis
• Tongue involved

28. 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

29. Etiology: most recent evidence
Biopsy?

30. Disturbances in the size of teeth:
Developmental disturbances of teeth
Tooth size is variable among different races and
between sexes

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

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

33.  Anodontia
 Hypodontia
 3rd
Ms (20-25%); L 2nd
PM; U 2
 Symmetrical or haphazard
 Pmt > Pry
Etiology: unclear
 Hereditary component
 Msx1 and Pax9 control genes
 Maternal age, LBW, Rubella, radiation, chemotherapy, idiopathic hypoparathyroidism
Disturbances in number

34. • Prevalence of hypodontia in primary dentition?
• Which primary teeth are most commonly affected?
• What happen to their successional teeth?
Oligodontia?

35.  Association with
systemic defects
Ectodermal Dysplasia
X-linked recessive trait

37. Cleft lip/palate
Crouzon's Syndrome

38. Down’s syndrome
Chondroectodermal
dysplasia

39. Other syndromes?
Multiple missing teeth→ syndromes?

40.  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

41. How do they develop
1/3 of supernumerary teeth in primary are
followed by supernumerary permanent teeth
Timing of their formation

42.  The presence of a supernumerary tooth is the
most common cause for the failure of eruption of a
maxillary central incisor.

43. Supplemental

44.  Association with systemic defects:
 Cleidocranial Dysplasia
 Gardner Syndrome
 Cleft lip/palate

45. Supernumerary teeth developing
in sites other than the jaws?
 Dental Transposition?
and confusion hyperdontia

46. Disturbances in the form of teeth:

47. ♦ Double teeth (Connated teeth):
 Joined by C, R or both
 Primary mandibular incisors
 Aetiology:
Gemination Fusion
or

48. Taurodontism
 Elongated crown w apically placed furcation
 Aetiology:
 Rarely: w craniofacial anomalies or XXY syndrome
Pmt Ms

52. ♦ Concrescence
 Acquired
 Upper Pmt Ms
 Follows hypercementosis
 Complications:
Before or
after
eruption

53.  Dilaceration
 Sharp bend of root
 Upper centrals
 Aetiology & complications

55. Disturbances in the structure of teeth:
 Enamel:
 Hypoplastic vs. Hypomineralized
 Defect depends on many factors
 Types depending on extent

56. Focal enamel hypoplasia:
 Aetiology:
 Idiopathic:
 Infection/Trauma:
 Radiotherapy
Turner teeth
Enamel opacities
Labial surface

57.  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

58. Congenital syphilis
“Hutchinson incisors” “Mulberry molars”
Affect primary teeth?

59. 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

60.  Hereditary Disturbances (genetic):
 Affecting only teeth:
Amelogenesis Imperfecta
 Generalized defects including teeth:
Ectodermal Dysplasia
Down syndrome

61. 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

62. 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)

63. Are there any reported cases of amelogenesis
imperfecta with no family history of the
disorder?

64.  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

65.  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

66. Dentine:
 Local causes: Turner teeth, radiotherapy
 General causes:

67.  Systemic disturbances:
o Rickets:
 preD, hypocalcified w  in interglobular D
o Hypophosphataemia:
 in interglobular D, large pulp chambers & long pulp horns
with cracked E

68. 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

69.  Dentinogenesis Imperfecta:
 Type I:
o Patients with Osteogenesis Imperfecta
o Autosomal dominant
 Type III: Brandywine isolate:
 Rare, isolated (Maryland)
Mutation in the DSPP gene

70.  Type II: (Hereditary opalescent dentine)
 Autosomal dominant but no OI
 Bluish-gray, brown/yellowish
Both dentitions

71. Amber

72.  Radiographs:
Φ Short, blunt root
Φ Obliteration of pulp with D
Φ Bulbous crowns
↑ Root fracture

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

74. 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

75.  Which is more
common DI or AI

76.  Dental Caries
 Tooth Sensitivity
 Crowning of teeth/timing

77.  Dentine Dysplasia:
o Autosomal dominant
o Two types:

78.  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

79. Histologically:
Radicular dentine: Numerous calcified spherical bodies
→“water streaming round boulders”

80. Complications

81.  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

82.  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

83.  Hypercementosis:
 Periapical inflammation
 Occlusal forces
 Paget’s disease,
 Hyperpituitarism
 Idiopathic
 Hypocementosis:
 Cleidocranial Dysplasia: CC
 Hypophosphatasia: Aplasia
Cementum

84.  Premature eruption:
 Natal & neonatal teeth
Disturbances in eruption & shedding of teeth:
 Premature loss of primary tooth
 Hyperthyroidism & Gigantism

85.  Delayed eruption/retarded eruption:
 Retained primary  Hypothyroidism & hypoparath
 Crowding  Nutritional : vitamin D, anemia
 Fibrosis  Down syndrome
 Supernumerary/cyst/tumor  Cleid Dysplasia
 Trauma  Prematurity

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

87. 3. Developmental Disturbances of Bone:

88. 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).

89.  D. Dx:
 Neurofibromatosis
 Fib. Dysplasia
 A-V malformation
 Intraoral: unilateral macroglossia, teeth, malocclusion
Premature formation and
eruption

90. Throughout life

91. B. Hemifacial atrophy: (Romberg Syndrome)
 Progressive unilat ↓ in face size (other parts)
 Onset: 1st
or 2nd
decade
2.5 ys 5 ys 11 ys

92.  Aetiology
 Associated: hyperpigmentation & loss of facial hair
 Intraoral: lips & tongue, alveolar bone, teeth (delay, short roots)

93. 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

94.  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.

95. • Aetiology:
 Hereditary: 40% of CL & 20% of CP
 Environmental:
 Nutritional factors
 Large tongue
 Toxins
 Infections
 Stress
 Ischemia
 Alcohol
 Drugs

96. What is the percentage of clefts
associated with syndromes?
Which syndrome is the most
common syndrome associated with
Orofacial clefting?

97. Median cleft of upper lip

98. Lateral facial cleft