Congenital and Developmental Disorders of the Oral Cavity Flashcards
What is double lip?
Mass of connective tissue (usually myxoid) on the upper (or lower) lip
What is the etiology of double lip?
Congenital or acquired
Double lip is seen in what syndrome?
Ascher’s Syndrome, a congenital etiology of double lip
A.What are the 4 major characteristics of Ascher’s Syndrome?
B. How many are needed for the diagnosis of Ascher’s?
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.
What is another name for double eyelid?
Blepharochalasis
What are the clinical features of paramedial lip pits?
Unilateral or bilateral pits 1-3mm in diameter 15mm deep
Lower lip
What is the etiology of paramedial lip pits?
Autosomal dominant trait
What is the treatment for double lip?
Removal of folds if interfering with speech or vision
A child presents with lip pits, cleft lip and cleft palate. What is the most likely diagnosis?
Van der Woude’s Syndrome
What is the epidemiology of Van der Woude’s?
1:35,000-100,000 in white population
What is the etiology of Van der Woude’s?
Autosomal dominant
What is the treament for Van der Woude’s?
Lip pits: none
Cleft lip and/or palate: surgery
What are the clinical features of Van der Woude’s?
1) Lip pits
2) Cleft lip OR palate OR a combined cleft lip and palate
Commissural lip pits are more prevalent in what what population?
Adults
What is the treatment for commissural lip pits?
None, it’s just a hereditary anomaly
What sites are most commonly affected by cleft lip?
Upper lip, left side
What are the etiologies of cleft lip?
40% Hereditary
60% environmental due to tetratogenic chemicals
True or False:
Cleft lip commonly presents alone.
FALSE
Usually seen with cleft palate
What patient population is cleft lip+cleft palate most prevalent? What is the prevalence?
Native americans
3.6/1,000
List the patient populations most commonly affected by cleft palate in descending (most - least affected) order.
- Native American 3.6/1000
- Asian 1/500
- White 1/700-1/1000 live births
- Black 1/2000
What are the etiologies of cleft palate?
Hereditary: 20% of cases
Environmentally induced with the first 6 weeks of pregnancy
Cleft palate alone affects which population the most?
Females
What percent of cases are cleft palate alone?
20-25% of cases
True or False:
Fordyces granules is a rare anatomical anomaly that most commonly affects females.
FALSE
Fordyces granules is a COMMON (80% of general population) anatomical anomaly that most commonly affects HAIRY MALES.
What condition is characterized by fibrous overgrowth of the gingiva?
Fibromatosis gingivae
What is the #1 cause of gingival hyperplasia?
Plaque-induced gingival hyperplasia due to inflammation
What is the etiology of fibromatosis gingivae?
Hereditary, autosomal dominant
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
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
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
What is a normal variant resulting in the accumulation of fluid within epithelial cells?
Leukodema
What population is most affected by leukodema?
African americans, 94%
White, 40%
You see multiple little brown spots in a patient’s mouth and anterior tongue. What is the most likely diagnosis?
Peutz-Jagher Syndrome
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
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
Prolonged use of cyclosporin may either be benign gingival hyperplasia or what malignant transformation?
EBV-induced lymphoproliferative disease
Congenital macroglossia is often associated with what syndrome?
Down syndrome
Acquired macroglossia may be associated with what type of neoplasms?
Hemangioma (#1), lymphangioma (#2)
Macoglossia may lead to what clinical presentations?
Malocclusion
Lateral crenations on the tongue from the teeth
What are 3 features of Melkersson-Rosenthal Syndrome?
- Facial paralysis
- Chelitis granulumatosa
- Fissured tongue
Malignant transformation of intestinal polyps has a 100% incidence in which syndrome?
Gardener’s Sydrome
What is the etiology of Gardener’s syndrome?
Autosomal dominant, gene on chromosome 5
A patient presents with a chronic, localized fungal infection in the middle posterior tongue. What is the most likely diagnosis?
Median rhomboid glossitis
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
Median rhomboid glossitis affects which population the most?
1/1000
Males more affected
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)
True or False
Males are more affected by benign migratory glossitis.
FALSE
FEMALES are more affected (2:1).
What is the treatment for geographic tongue?
No known treatment.
Vitamin B
Don’t brush until lesions heal
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
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
What is the treatment for hairy tongue?
Tongue brushing 1-2x/day
Lingual varices is found in what population?
Age 60+
What are lingual varices?
Abnormal dilation of the veins
What color are lingual varices?
purple-red
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
What is the treatment for lingual varices?
None. Isolated lip and buccal mucosa are carefully removed surgically
Lingual thyroid affects what population the most?
Females (4:1)
1/3rd of lingual thyroid patients have hypothroidism
What is lingual thyroid?
Accumulation of thyroid tissue on the posterior dorsal surface of the tongue
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.
Where does lingual tonsil occur?
Posterior lateral border of the tongue
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
What is the etiology for micrognathia?
Congenital (Pierre Robin Syndrome)
Acquired (trauma)
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
What is treatment for micrognathia?
Surgical for functional and/or esthetic reasons
Prognathism is common in which patient population?
Blacks
What syndrome/disease is macrognathia associated with if it is present in both jaws?
Pituitary gigantisms, acromegaly, Paget’s
Localized jaw enlargements is associated with what?
Cyst, tumor, other diseases
Macrognathia can affect both jaws but is more common where?
Mandible
What is the clinical presentation of macrognathia?
Mandibular protrusion
Class III occlusion
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
Facial hemihypertrophy can also be associated with what neoplasm?
Wilma’s tumor
Kidney or liver neoplasms
Sometimes neural or vascular neoplasms
How common is hemifacial microsomia?
Relatively common
1/5600 patients
What is the etiology of chromosomal alteration?
Multiple chromosomal alteration
What sites are affected by hemifacial hypertrophy?
Face, ear, oral cavity, mandible
Right side is more common
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
What is another name for mandibulofacial dysotosis?
Treacher-Collins Syndrome
What is the etiology of Treacher-Collins Syndrome?
40% of cases are from a rare autosomal dominant inheritance
60% are from mutations
What is the clinical presentation regarding the face in Treacher-Collins Syndrome?
Hypoplastic zygoma making face appear narrow
Under-developed mandible
Cleft palate
What are other clinical features of Treacher-Collins Syndrome?
Coloboma
50% have missing eyelashes
Deformed ears
What are colobomas?
A hole or notch in the outer portion of the lower eyelid
What is Crouzon Syndrome?
Rare autosomal dominant disorder characterized by premature closing of cranial sutures
What is the occlusal status of those with Crouzon Syndrome?
Class III with anterior open bite
What are other clinical features of Crouzon Syndrome?
Asymmetric midface, frontal bone deficiency, mental retardation
What is the treatment for Crouzon Syndrome?
Surgery with craniofacial advancement
Le Fort III and I osteomies
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
What is the etiology for partial anodontia?
inherited
Complete anodontia is seen in associate with what other develomental disorder?
Hereditary ectodermal dysplasia
What is the etiology for hereditary ectodermal dysplasia?
X-linked recessive
What is the treatment for complete anodontia?
Prothesis at an early age and changing the dentures as a child
What are predeciduous dentition?
Accessory teeth present at birth that have no roots - crowns only, NOT true teeth
What are the most commonly affected sites for pre-deciduous dentition?
85% mandibular incisors
11% maxillary incisors
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
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
What is the treatment for supernumerary teeth?
Removal if practical. Removal is necessary if it is associated with a dentigerous cyst
Multiple supernumerary teeth occur most frequently in what region of the oral cavity?
1) premolar region
2) molar and anterior region
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
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
What are the most common teeth affected by microdontia?
Maxillary lateral
3rd molar
Generalized microdontia is associated with what?
pituitary dwarfism
What is gemination?
Developmental anomaly affecting primarily that primary teeth
What are the clinical features of gemination?
Single wide crown with single root and one root cancal
Formed from one single tooth germ
What are the clinical features of fusion?
Union of two separate teeth - wide crown with an extra root and separate or fused root canals
What is the union of two or more teeth by cementum?
Concrescence
When does concrescence occur?
After root formation has completed
What is the etiology of dilaceration?
Trauma
What is the clinical presentation of dilaceration?
Sharp bend in teh crown or root of a fully developed tooth
What is the treatment for a dilacerated tooth?
No treatment or extraction (can be complicated so need to take radiograph beforehand)
What is a developmental anomaly where the crown folds inwardly?
Dens in dente (dens invaginatus)
What are the clinical features of dens en dente?
conical shaped tooth with a small lingual pit
What is the treatment for dens en dente?
Will be prone to caries and periapical inflammation so it needs to be prophylactically restored
What is an enameloma?
benign, hamartomous accumulation of excess enamel, looks like a small pearl
Where do enamelomas occur most often?
furcation of maxillary molars followed by mandibular molars
What is dens evaginatus?
Developmental anomaly resulting in an extra cusp
What is a talon cusp?
An extra cusp on the lingual surface of maxillary incisors
Where does dens envaginatus most commonly occur?
Premolars, bilaterally
What is the clinical significance of an extra cusp?
They have pulp horns that get early exposure and pulpitis (attrition, reduction by dentist)
How is dens envaginatus treated?
endo, restorative or prosthetic
What populations does dens evaginatus most common affect?
Asians - japanesse, chinese, filipinos
Also eskimos and native americans
What is taurodontism?
Large tooth body with short roots, bifurcation is near the apex
Large rectangular tooth with large pulp chamber
Taurodontism is associated with what syndrome?
Down syndrome
What is the etiology of amelogenesis imperfecta?
Hereditary - hetergeneous presentation
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
What are the clinical features of dentinogenesis imperfecta?
Soft, opalescent teeth
Obliterated coronal and pulpal chambers
Dentinogenesis imperfecta is characterized by what?
Premature closure and obliteration of pulp chambers
What types of dentinogenesis imperfecta is associated with osteogenesis imperfecta?
type 1
What type is most common in dentinogenesis imperfecta?
Hereditary opalscent dentin
Type III dentinogenesis imperfecta is also known as what?
Brandywine isolate
What is the Brandywine isolate?
Rare, only found in a racial isolate of Maryland. Large pulp with premature root closure
What is the etiology of the brandywine isolate?
Autosomal dominant
What is the etiology for regional odontodysplasia?
NON-hereditary, sporadically occurring
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
Where does regional odnotodysplasia most commonly occur?
Maxillary anterior teeth
