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Oral Pathology > Congenital and Developmental Disorders of the Oral Cavity > Flashcards

Congenital and Developmental Disorders of the Oral Cavity Flashcards

1
Q

What is double lip?

A

Mass of connective tissue (usually myxoid) on the upper (or lower) lip

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2
Q

What is the etiology of double lip?

A

Congenital or acquired

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3
Q

Double lip is seen in what syndrome?

A

Ascher’s Syndrome, a congenital etiology of double lip

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4
Q

A.What are the 4 major characteristics of Ascher’s Syndrome?
B. How many are needed for the diagnosis of Ascher’s?

A 
A. 1. Double lip
2. Double eyelid
3. Mixed tumor
4. Goiter in neck (seen in 50% of cases)
B. At least 2 are needed.
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5
Q

What is another name for double eyelid?

A

Blepharochalasis

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6
Q

What are the clinical features of paramedial lip pits?

A

Unilateral or bilateral pits 1-3mm in diameter 15mm deep

Lower lip

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7
Q

What is the etiology of paramedial lip pits?

A

Autosomal dominant trait

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8
Q

What is the treatment for double lip?

A

Removal of folds if interfering with speech or vision

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9
Q

A child presents with lip pits, cleft lip and cleft palate. What is the most likely diagnosis?

A

Van der Woude’s Syndrome

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10
Q

What is the epidemiology of Van der Woude’s?

A

1:35,000-100,000 in white population

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11
Q

What is the etiology of Van der Woude’s?

A

Autosomal dominant

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12
Q

What is the treament for Van der Woude’s?

A

Lip pits: none

Cleft lip and/or palate: surgery

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13
Q

What are the clinical features of Van der Woude’s?

A

1) Lip pits

2) Cleft lip OR palate OR a combined cleft lip and palate

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14
Q

Commissural lip pits are more prevalent in what what population?

A

Adults

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15
Q

What is the treatment for commissural lip pits?

A

None, it’s just a hereditary anomaly

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16
Q

What sites are most commonly affected by cleft lip?

A

Upper lip, left side

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17
Q

What are the etiologies of cleft lip?

A

40% Hereditary

60% environmental due to tetratogenic chemicals

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18
Q

True or False:

Cleft lip commonly presents alone.

A

FALSE

Usually seen with cleft palate

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19
Q

What patient population is cleft lip+cleft palate most prevalent? What is the prevalence?

A

Native americans

3.6/1,000

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20
Q

List the patient populations most commonly affected by cleft palate in descending (most - least affected) order.

A
  • Native American 3.6/1000
  • Asian 1/500
  • White 1/700-1/1000 live births
  • Black 1/2000
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21
Q

What are the etiologies of cleft palate?

A

Hereditary: 20% of cases

Environmentally induced with the first 6 weeks of pregnancy

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22
Q

Cleft palate alone affects which population the most?

A

Females

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23
Q

What percent of cases are cleft palate alone?

A

20-25% of cases

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24
Q

True or False:

Fordyces granules is a rare anatomical anomaly that most commonly affects females.

A

FALSE

Fordyces granules is a COMMON (80% of general population) anatomical anomaly that most commonly affects HAIRY MALES.

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25
Q

What condition is characterized by fibrous overgrowth of the gingiva?

A

Fibromatosis gingivae

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26
Q

What is the #1 cause of gingival hyperplasia?

A

Plaque-induced gingival hyperplasia due to inflammation

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27
Q

What is the etiology of fibromatosis gingivae?

A

Hereditary, autosomal dominant

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28
Q

A patient presents with gingival hyperplasia. As she is sitting in the chair, you also notice that she doesn’t have any fingernails. What syndrome do you expect this to be?

A

Laband syndrome

Autosomal dominant

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29
Q 
Name the clinical features involving the following in Laband syndrome.
Gingiva: 
Nose, Ears: 
Liver, Spleen: 
Hair: 
Nails:
A

Gingiva: marked gingival hyperplasia
Nose, Ears: fleshy and large nose and ears due to soft cartilage
Liver, Spleen: hepato and/or splenomegaly (hepatosplenomegaly=large spleen and liver
Hair: mild hirsutism/hypertrichosis
Nails: hypoplastic or missing thumbnails and/or toenails. Toes also lack terminal phalanges

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30
Q

You see smooth, papillomatous lesions in all four quadrants as well as around the eyes, nose, mouth and forehead. What is the most likely diagnosis?

A

Cowden syndrome

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31
Q

What is a normal variant resulting in the accumulation of fluid within epithelial cells?

A

Leukodema

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32
Q

What population is most affected by leukodema?

A

African americans, 94%

White, 40%

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33
Q

You see multiple little brown spots in a patient’s mouth and anterior tongue. What is the most likely diagnosis?

A

Peutz-Jagher Syndrome

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34
Q

The brown lesions of Peutz-Jagher are benign, but why is early diagnosis still important?

A

10% of polyps within these patients have a tendency for malignant transformation

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35
Q

Name 3 drugs associated with gingival hyperplasia and why they are used.

A

Dilantin: epilepsy drug
Cycosporin: immunosuppressant for organ transplant patients to avoid rejection
Nifedipin: anti-hypertensive drug

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36
Q

Prolonged use of cyclosporin may either be benign gingival hyperplasia or what malignant transformation?

A

EBV-induced lymphoproliferative disease

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37
Q

Congenital macroglossia is often associated with what syndrome?

A

Down syndrome

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38
Q

Acquired macroglossia may be associated with what type of neoplasms?

A

Hemangioma (#1), lymphangioma (#2)

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39
Q

Macoglossia may lead to what clinical presentations?

A

Malocclusion

Lateral crenations on the tongue from the teeth

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40
Q

What are 3 features of Melkersson-Rosenthal Syndrome?

A
  1. Facial paralysis
  2. Chelitis granulumatosa
  3. Fissured tongue
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41
Q

Malignant transformation of intestinal polyps has a 100% incidence in which syndrome?

A

Gardener’s Sydrome

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42
Q

What is the etiology of Gardener’s syndrome?

A

Autosomal dominant, gene on chromosome 5

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43
Q

A patient presents with a chronic, localized fungal infection in the middle posterior tongue. What is the most likely diagnosis?

A

Median rhomboid glossitis

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44
Q

What are clinical features of median rhomboid glossitis?

A

Chronic, localized fungal infection in the middle posterior tongue
Flat or raised, red and elongated
Atrophied filiform papillae

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45
Q

Median rhomboid glossitis affects which population the most?

A

1/1000

Males more affected

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46
Q

A patient complains of odd, painful large red lesions with a white halo. It looks different day to day. What is the most likely diagnosis?

A

Benign migratory glossitis (geographic tongue)

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47
Q

True or False

Males are more affected by benign migratory glossitis.

A

FALSE

FEMALES are more affected (2:1).

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48
Q

What is the treatment for geographic tongue?

A

No known treatment.
Vitamin B
Don’t brush until lesions heal

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49
Q

What percent of the population is affected by hairy tongue?

A

0.5% of the adult population

Smokers, long-term antibiotic users, radiation patients, ill/debilitated patients

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50
Q

What is the clinical presentation of hairy tongue?

A

Enlongated filiform papillae
Can be white, black or brown depending on the cause
May cause gaggle because hair can tickle the palate

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51
Q

What is the treatment for hairy tongue?

A

Tongue brushing 1-2x/day

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52
Q

Lingual varices is found in what population?

A

Age 60+

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53
Q

What are lingual varices?

A

Abnormal dilation of the veins

54
Q

What color are lingual varices?

A

purple-red

55
Q

What are the clinical feature of lingual varices?

A

purple-red blebs and papules on the lingual tongue. May also be found on the buccal mucosa and lips

56
Q

What is the treatment for lingual varices?

A

None. Isolated lip and buccal mucosa are carefully removed surgically

57
Q

Lingual thyroid affects what population the most?

A

Females (4:1)

1/3rd of lingual thyroid patients have hypothroidism

58
Q

What is lingual thyroid?

A

Accumulation of thyroid tissue on the posterior dorsal surface of the tongue

59
Q

What is the treatment of choice for lingual thyroid?

A

No treatment if asymptomatic. Need to perform thyroid function tests before excision. Only biopsy if it appears malignant.

60
Q

Where does lingual tonsil occur?

A

Posterior lateral border of the tongue

61
Q

What is the treatment for lingual tonsil?

A

No treatment needed, this is just benign lymphoid hyperplasia. May need to biopsy if patient is a heavy smoker and it looks malignant

62
Q

What is the etiology for micrognathia?

A

Congenital (Pierre Robin Syndrome)

Acquired (trauma)

63
Q

What are clinical features of micrognathia?

A

Both upper and lower jaw are affected - smaller
Mandible appears retruded so patient has a bird-face
Small mal-developed chin

64
Q

What is treatment for micrognathia?

A

Surgical for functional and/or esthetic reasons

65
Q

Prognathism is common in which patient population?

A

Blacks

66
Q

What syndrome/disease is macrognathia associated with if it is present in both jaws?

A

Pituitary gigantisms, acromegaly, Paget’s

67
Q

Localized jaw enlargements is associated with what?

A

Cyst, tumor, other diseases

68
Q

Macrognathia can affect both jaws but is more common where?

A

Mandible

69
Q

What is the clinical presentation of macrognathia?

A

Mandibular protrusion

Class III occlusion

70
Q

What are the clinical features of facial hemihypertrophy?

A

Dense jaw
Big crowns and roots
Exfoliation and eruption happens earlier than normal
Big tongue and papillae

71
Q

Facial hemihypertrophy can also be associated with what neoplasm?

A

Wilma’s tumor
Kidney or liver neoplasms
Sometimes neural or vascular neoplasms

72
Q

How common is hemifacial microsomia?

A

Relatively common

1/5600 patients

73
Q

What is the etiology of chromosomal alteration?

A

Multiple chromosomal alteration

74
Q

What sites are affected by hemifacial hypertrophy?

A

Face, ear, oral cavity, mandible

Right side is more common

75
Q

What is the clinical presentation of hemifacial hypertrophy?

A

> 35% have agenesis of the ramus of the mandible
Parotid gland agenesis
Palatal and tongue muscles unilaterally hypoplastic or paralyzed
15% has CL/CP
Delayed erupted and missing teeth

76
Q

What is another name for mandibulofacial dysotosis?

A

Treacher-Collins Syndrome

77
Q

What is the etiology of Treacher-Collins Syndrome?

A

40% of cases are from a rare autosomal dominant inheritance

60% are from mutations

78
Q

What is the clinical presentation regarding the face in Treacher-Collins Syndrome?

A

Hypoplastic zygoma making face appear narrow
Under-developed mandible
Cleft palate

79
Q

What are other clinical features of Treacher-Collins Syndrome?

A

Coloboma
50% have missing eyelashes
Deformed ears

80
Q

What are colobomas?

A

A hole or notch in the outer portion of the lower eyelid

81
Q

What is Crouzon Syndrome?

A

Rare autosomal dominant disorder characterized by premature closing of cranial sutures

82
Q

What is the occlusal status of those with Crouzon Syndrome?

A

Class III with anterior open bite

83
Q

What are other clinical features of Crouzon Syndrome?

A

Asymmetric midface, frontal bone deficiency, mental retardation

84
Q

What is the treatment for Crouzon Syndrome?

A

Surgery with craniofacial advancement

Le Fort III and I osteomies

85
Q

What are the most common teeth missing i partial anodontia?

A

Third molars
Maxillary lateral incisors
2nd premolars
Very rare for primary teeth to be missing

86
Q

What is the etiology for partial anodontia?

A

inherited

87
Q

Complete anodontia is seen in associate with what other develomental disorder?

A

Hereditary ectodermal dysplasia

88
Q

What is the etiology for hereditary ectodermal dysplasia?

A

X-linked recessive

89
Q

What is the treatment for complete anodontia?

A

Prothesis at an early age and changing the dentures as a child

90
Q

What are predeciduous dentition?

A

Accessory teeth present at birth that have no roots - crowns only, NOT true teeth

91
Q

What are the most commonly affected sites for pre-deciduous dentition?

A

85% mandibular incisors

11% maxillary incisors

92
Q

What treatment is needed for pre-deciduous teeth?

A

None needed for pre-deciduous teeth or dental lamina cyst. Remove only if it is a true tooth

93
Q

What are the most common sites for single supernumerary teeth to occur?

A

90% happen in the maxilla
Most common: mesiodens, maxillary central incisor
Mandibular 4th molar

94
Q

What is the treatment for supernumerary teeth?

A

Removal if practical. Removal is necessary if it is associated with a dentigerous cyst

95
Q

Multiple supernumerary teeth occur most frequently in what region of the oral cavity?

A

1) premolar region

2) molar and anterior region

96
Q

What are the clinical features of Gardener’s syndrome?

A

Intestinal polyposis - 100% transformation rate starting around age 30 - 50% get cancer of polyps
60% get multiple epidermoid cysts

97
Q

What are symptoms of cleocranial dysostosis?

A 
Skeletal abnormalities involving the crainium and clavicle (hypoplastic or missing)
Short stature
Broad nose
midfacial retrusion
Class 3 occlusion
98
Q

What are the most common teeth affected by microdontia?

A

Maxillary lateral

3rd molar

99
Q

Generalized microdontia is associated with what?

A

pituitary dwarfism

100
Q

What is gemination?

A

Developmental anomaly affecting primarily that primary teeth

101
Q

What are the clinical features of gemination?

A

Single wide crown with single root and one root cancal

Formed from one single tooth germ

102
Q

What are the clinical features of fusion?

A

Union of two separate teeth - wide crown with an extra root and separate or fused root canals

103
Q

What is the union of two or more teeth by cementum?

A

Concrescence

104
Q

When does concrescence occur?

A

After root formation has completed

105
Q

What is the etiology of dilaceration?

A

Trauma

106
Q

What is the clinical presentation of dilaceration?

A

Sharp bend in teh crown or root of a fully developed tooth

107
Q

What is the treatment for a dilacerated tooth?

A

No treatment or extraction (can be complicated so need to take radiograph beforehand)

108
Q

What is a developmental anomaly where the crown folds inwardly?

A

Dens in dente (dens invaginatus)

109
Q

What are the clinical features of dens en dente?

A

conical shaped tooth with a small lingual pit

110
Q

What is the treatment for dens en dente?

A

Will be prone to caries and periapical inflammation so it needs to be prophylactically restored

111
Q

What is an enameloma?

A

benign, hamartomous accumulation of excess enamel, looks like a small pearl

112
Q

Where do enamelomas occur most often?

A

furcation of maxillary molars followed by mandibular molars

113
Q

What is dens evaginatus?

A

Developmental anomaly resulting in an extra cusp

114
Q

What is a talon cusp?

A

An extra cusp on the lingual surface of maxillary incisors

115
Q

Where does dens envaginatus most commonly occur?

A

Premolars, bilaterally

116
Q

What is the clinical significance of an extra cusp?

A

They have pulp horns that get early exposure and pulpitis (attrition, reduction by dentist)

117
Q

How is dens envaginatus treated?

A

endo, restorative or prosthetic

118
Q

What populations does dens evaginatus most common affect?

A

Asians - japanesse, chinese, filipinos

Also eskimos and native americans

119
Q

What is taurodontism?

A

Large tooth body with short roots, bifurcation is near the apex
Large rectangular tooth with large pulp chamber

120
Q

Taurodontism is associated with what syndrome?

A

Down syndrome

121
Q

What is the etiology of amelogenesis imperfecta?

A

Hereditary - hetergeneous presentation

122
Q

What are the 3 types of amelogenesis imperfecta? Describe their differences.

A

1) Hypoplastic amelogenesis: thin enamel, pits, vertical grooves. Yellow teeth with open contacts
2) Hypocalcified amelogenesis: normal enamel thickness but is very soft and can scraped off with explorer. Chalky white or orange to browthn calcification defect
3) Hypomaturation amelogenesis: normal enamel thickes but soft enamel that can be pierced

123
Q

What are the clinical features of dentinogenesis imperfecta?

A

Soft, opalescent teeth

Obliterated coronal and pulpal chambers

124
Q

Dentinogenesis imperfecta is characterized by what?

A

Premature closure and obliteration of pulp chambers

125
Q

What types of dentinogenesis imperfecta is associated with osteogenesis imperfecta?

A

type 1

126
Q

What type is most common in dentinogenesis imperfecta?

A

Hereditary opalscent dentin

127
Q

Type III dentinogenesis imperfecta is also known as what?

A

Brandywine isolate

128
Q

What is the Brandywine isolate?

A

Rare, only found in a racial isolate of Maryland. Large pulp with premature root closure

129
Q

What is the etiology of the brandywine isolate?

A

Autosomal dominant

130
Q

What is the etiology for regional odontodysplasia?

A

NON-hereditary, sporadically occurring

131
Q

What are the clinical features of regional odontodysplasia?

A

both enamel and dentin are affected - thin and not well mineralized
“ghost teeth”
Large pulps
Delayed/failed eruption

132
Q

Where does regional odnotodysplasia most commonly occur?

A

Maxillary anterior teeth

Oral Pathology (2 decks)

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