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
2
Q
What is the etiology of double lip?
A
Congenital or acquired
3
Q
Double lip is seen in what syndrome?
A
Ascher’s Syndrome, a congenital etiology of double lip
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.
5
Q
What is another name for double eyelid?
A
Blepharochalasis
6
Q
What are the clinical features of paramedial lip pits?
A
Unilateral or bilateral pits 1-3mm in diameter 15mm deep
Lower lip
7
Q
What is the etiology of paramedial lip pits?
A
Autosomal dominant trait
8
Q
What is the treatment for double lip?
A
Removal of folds if interfering with speech or vision
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
10
Q
What is the epidemiology of Van der Woude’s?
A
1:35,000-100,000 in white population
11
Q
What is the etiology of Van der Woude’s?
A
Autosomal dominant
12
Q
What is the treament for Van der Woude’s?
A
Lip pits: none
Cleft lip and/or palate: surgery
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
14
Q
Commissural lip pits are more prevalent in what what population?
A
Adults
15
Q
What is the treatment for commissural lip pits?
A
None, it’s just a hereditary anomaly
16
Q
What sites are most commonly affected by cleft lip?
A
Upper lip, left side
17
Q
What are the etiologies of cleft lip?
A
40% Hereditary
60% environmental due to tetratogenic chemicals
18
Q
True or False:
Cleft lip commonly presents alone.
A
FALSE
Usually seen with cleft palate
19
Q
What patient population is cleft lip+cleft palate most prevalent? What is the prevalence?
A
Native americans
3.6/1,000
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
21
Q
What are the etiologies of cleft palate?
A
Hereditary: 20% of cases
Environmentally induced with the first 6 weeks of pregnancy
22
Q
Cleft palate alone affects which population the most?
A
Females
23
Q
What percent of cases are cleft palate alone?
A
20-25% of cases
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.
25
What condition is characterized by fibrous overgrowth of the gingiva?
Fibromatosis gingivae
26
What is the #1 cause of gingival hyperplasia?
Plaque-induced gingival hyperplasia due to inflammation
27
What is the etiology of fibromatosis gingivae?
Hereditary, autosomal dominant
28
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?
Laband syndrome
| Autosomal dominant
29
```
Name the clinical features involving the following in Laband syndrome.
Gingiva:
Nose, Ears:
Liver, Spleen:
Hair:
Nails:
```
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
30
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?
Cowden syndrome
31
What is a normal variant resulting in the accumulation of fluid within epithelial cells?
Leukodema
32
What population is most affected by leukodema?
African americans, 94%
| White, 40%
33
You see multiple little brown spots in a patient's mouth and anterior tongue. What is the most likely diagnosis?
Peutz-Jagher Syndrome
34
The brown lesions of Peutz-Jagher are benign, but why is early diagnosis still important?
10% of polyps within these patients have a tendency for malignant transformation
35
Name 3 drugs associated with gingival hyperplasia and why they are used.
Dilantin: epilepsy drug
Cycosporin: immunosuppressant for organ transplant patients to avoid rejection
Nifedipin: anti-hypertensive drug
36
Prolonged use of cyclosporin may either be benign gingival hyperplasia or what malignant transformation?
EBV-induced lymphoproliferative disease
37
Congenital macroglossia is often associated with what syndrome?
Down syndrome
38
Acquired macroglossia may be associated with what type of neoplasms?
Hemangioma (#1), lymphangioma (#2)
39
Macoglossia may lead to what clinical presentations?
Malocclusion
| Lateral crenations on the tongue from the teeth
40
What are 3 features of Melkersson-Rosenthal Syndrome?
1. Facial paralysis
2. Chelitis granulumatosa
3. Fissured tongue
41
Malignant transformation of intestinal polyps has a 100% incidence in which syndrome?
Gardener's Sydrome
42
What is the etiology of Gardener's syndrome?
Autosomal dominant, gene on chromosome 5
43
A patient presents with a chronic, localized fungal infection in the middle posterior tongue. What is the most likely diagnosis?
Median rhomboid glossitis
44
What are clinical features of median rhomboid glossitis?
Chronic, localized fungal infection in the middle posterior tongue
Flat or raised, red and elongated
Atrophied filiform papillae
45
Median rhomboid glossitis affects which population the most?
1/1000
| Males more affected
46
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?
Benign migratory glossitis (geographic tongue)
47
True or False
| Males are more affected by benign migratory glossitis.
FALSE
| FEMALES are more affected (2:1).
48
What is the treatment for geographic tongue?
No known treatment.
Vitamin B
Don't brush until lesions heal
49
What percent of the population is affected by hairy tongue?
0.5% of the adult population
| Smokers, long-term antibiotic users, radiation patients, ill/debilitated patients
50
What is the clinical presentation of hairy tongue?
Enlongated filiform papillae
Can be white, black or brown depending on the cause
May cause gaggle because hair can tickle the palate
51
What is the treatment for hairy tongue?
Tongue brushing 1-2x/day
52
Lingual varices is found in what population?
Age 60+
53
What are lingual varices?
Abnormal dilation of the veins
54
What color are lingual varices?
purple-red
55
What are the clinical feature of lingual varices?
purple-red blebs and papules on the lingual tongue. May also be found on the buccal mucosa and lips
56
What is the treatment for lingual varices?
None. Isolated lip and buccal mucosa are carefully removed surgically
57
Lingual thyroid affects what population the most?
Females (4:1)
| 1/3rd of lingual thyroid patients have hypothroidism
58
What is lingual thyroid?
Accumulation of thyroid tissue on the posterior dorsal surface of the tongue
59
What is the treatment of choice for lingual thyroid?
No treatment if asymptomatic. Need to perform thyroid function tests before excision. Only biopsy if it appears malignant.
60
Where does lingual tonsil occur?
Posterior lateral border of the tongue
61
What is the treatment for lingual tonsil?
No treatment needed, this is just benign lymphoid hyperplasia. May need to biopsy if patient is a heavy smoker and it looks malignant
62
What is the etiology for micrognathia?
Congenital (Pierre Robin Syndrome)
| Acquired (trauma)
63
What are clinical features of micrognathia?
Both upper and lower jaw are affected - smaller
Mandible appears retruded so patient has a bird-face
Small mal-developed chin
64
What is treatment for micrognathia?
Surgical for functional and/or esthetic reasons
65
Prognathism is common in which patient population?
Blacks
66
What syndrome/disease is macrognathia associated with if it is present in both jaws?
Pituitary gigantisms, acromegaly, Paget's
67
Localized jaw enlargements is associated with what?
Cyst, tumor, other diseases
68
Macrognathia can affect both jaws but is more common where?
Mandible
69
What is the clinical presentation of macrognathia?
Mandibular protrusion
| Class III occlusion
70
What are the clinical features of facial hemihypertrophy?
Dense jaw
Big crowns and roots
Exfoliation and eruption happens earlier than normal
Big tongue and papillae
71
Facial hemihypertrophy can also be associated with what neoplasm?
Wilma's tumor
Kidney or liver neoplasms
Sometimes neural or vascular neoplasms
72
How common is hemifacial microsomia?
Relatively common
| 1/5600 patients
73
What is the etiology of chromosomal alteration?
Multiple chromosomal alteration
74
What sites are affected by hemifacial hypertrophy?
Face, ear, oral cavity, mandible
| Right side is more common
75
What is the clinical presentation of hemifacial hypertrophy?
>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
What is another name for mandibulofacial dysotosis?
Treacher-Collins Syndrome
77
What is the etiology of Treacher-Collins Syndrome?
40% of cases are from a rare autosomal dominant inheritance
| 60% are from mutations
78
What is the clinical presentation regarding the face in Treacher-Collins Syndrome?
Hypoplastic zygoma making face appear narrow
Under-developed mandible
Cleft palate
79
What are other clinical features of Treacher-Collins Syndrome?
Coloboma
50% have missing eyelashes
Deformed ears
80
What are colobomas?
A hole or notch in the outer portion of the lower eyelid
81
What is Crouzon Syndrome?
Rare autosomal dominant disorder characterized by premature closing of cranial sutures
82
What is the occlusal status of those with Crouzon Syndrome?
Class III with anterior open bite
83
What are other clinical features of Crouzon Syndrome?
Asymmetric midface, frontal bone deficiency, mental retardation
84
What is the treatment for Crouzon Syndrome?
Surgery with craniofacial advancement
| Le Fort III and I osteomies
85
What are the most common teeth missing i partial anodontia?
Third molars
Maxillary lateral incisors
2nd premolars
Very rare for primary teeth to be missing
86
What is the etiology for partial anodontia?
inherited
87
Complete anodontia is seen in associate with what other develomental disorder?
Hereditary ectodermal dysplasia
88
What is the etiology for hereditary ectodermal dysplasia?
X-linked recessive
89
What is the treatment for complete anodontia?
Prothesis at an early age and changing the dentures as a child
90
What are predeciduous dentition?
Accessory teeth present at birth that have no roots - crowns only, NOT true teeth
91
What are the most commonly affected sites for pre-deciduous dentition?
85% mandibular incisors
| 11% maxillary incisors
92
What treatment is needed for pre-deciduous teeth?
None needed for pre-deciduous teeth or dental lamina cyst. Remove only if it is a true tooth
93
What are the most common sites for single supernumerary teeth to occur?
90% happen in the maxilla
Most common: mesiodens, maxillary central incisor
Mandibular 4th molar
94
What is the treatment for supernumerary teeth?
Removal if practical. Removal is necessary if it is associated with a dentigerous cyst
95
Multiple supernumerary teeth occur most frequently in what region of the oral cavity?
1) premolar region
| 2) molar and anterior region
96
What are the clinical features of Gardener's syndrome?
Intestinal polyposis - 100% transformation rate starting around age 30 - 50% get cancer of polyps
60% get multiple epidermoid cysts
97
What are symptoms of cleocranial dysostosis?
```
Skeletal abnormalities involving the crainium and clavicle (hypoplastic or missing)
Short stature
Broad nose
midfacial retrusion
Class 3 occlusion
```
98
What are the most common teeth affected by microdontia?
Maxillary lateral
| 3rd molar
99
Generalized microdontia is associated with what?
pituitary dwarfism
100
What is gemination?
Developmental anomaly affecting primarily that primary teeth
101
What are the clinical features of gemination?
Single wide crown with single root and one root cancal
| Formed from one single tooth germ
102
What are the clinical features of fusion?
Union of two separate teeth - wide crown with an extra root and separate or fused root canals
103
What is the union of two or more teeth by cementum?
Concrescence
104
When does concrescence occur?
After root formation has completed
105
What is the etiology of dilaceration?
Trauma
106
What is the clinical presentation of dilaceration?
Sharp bend in teh crown or root of a fully developed tooth
107
What is the treatment for a dilacerated tooth?
No treatment or extraction (can be complicated so need to take radiograph beforehand)
108
What is a developmental anomaly where the crown folds inwardly?
Dens in dente (dens invaginatus)
109
What are the clinical features of dens en dente?
conical shaped tooth with a small lingual pit
110
What is the treatment for dens en dente?
Will be prone to caries and periapical inflammation so it needs to be prophylactically restored
111
What is an enameloma?
benign, hamartomous accumulation of excess enamel, looks like a small pearl
112
Where do enamelomas occur most often?
furcation of maxillary molars followed by mandibular molars
113
What is dens evaginatus?
Developmental anomaly resulting in an extra cusp
114
What is a talon cusp?
An extra cusp on the lingual surface of maxillary incisors
115
Where does dens envaginatus most commonly occur?
Premolars, bilaterally
116
What is the clinical significance of an extra cusp?
They have pulp horns that get early exposure and pulpitis (attrition, reduction by dentist)
117
How is dens envaginatus treated?
endo, restorative or prosthetic
118
What populations does dens evaginatus most common affect?
Asians - japanesse, chinese, filipinos
Also eskimos and native americans
119
What is taurodontism?
Large tooth body with short roots, bifurcation is near the apex
Large rectangular tooth with large pulp chamber
120
Taurodontism is associated with what syndrome?
Down syndrome
121
What is the etiology of amelogenesis imperfecta?
Hereditary - hetergeneous presentation
122
What are the 3 types of amelogenesis imperfecta? Describe their differences.
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
What are the clinical features of dentinogenesis imperfecta?
Soft, opalescent teeth
| Obliterated coronal and pulpal chambers
124
Dentinogenesis imperfecta is characterized by what?
Premature closure and obliteration of pulp chambers
125
What types of dentinogenesis imperfecta is associated with osteogenesis imperfecta?
type 1
126
What type is most common in dentinogenesis imperfecta?
Hereditary opalscent dentin
127
Type III dentinogenesis imperfecta is also known as what?
Brandywine isolate
128
What is the Brandywine isolate?
Rare, only found in a racial isolate of Maryland. Large pulp with premature root closure
129
What is the etiology of the brandywine isolate?
Autosomal dominant
130
What is the etiology for regional odontodysplasia?
NON-hereditary, sporadically occurring
131
What are the clinical features of regional odontodysplasia?
both enamel and dentin are affected - thin and not well mineralized
"ghost teeth"
Large pulps
Delayed/failed eruption
132
Where does regional odnotodysplasia most commonly occur?
Maxillary anterior teeth
