Chapter 1: Developmental Defects Flashcards
upper lip formation occurs at weeks ___
6-7
upper lip formation involves the merging of what processes?
medial nasal processes merge with each other as well as the maxillary processes of the first branchial arches
when does central face development begin?
at week 4
medial and lateral ___ develop from the proliferation of ___ on both sides of each nasal placode
- nasal processes
- ectomesenchyme
the primary palate consists of a merger of what?
medial nasal process
the secondary palate is formed from the ___ on the ___
- maxillary processes
- first branchial arches
the ___ palate makes up 90% of the hard and soft palates
secondary
a cleft lip is the defective fusion of the ___ process with the ___ process
medial nasal process with the maxillary process
most (80%) of cleft lip cases are bilateral or unilateral?
unilateral
when can you treat for cleft lip?
- rule of 10 - 10 weeks, 10 lbs, 10 gm %hemoglobin
cleft palate is a result of the failure of what to fuse?
the palatal shelves
the minimal manifestation of cleft palate is ___
bifid uvula
about what patient age is treatment of celft palate usually performed?
1.5yrs
what are the relative prevalences of developmental cases that are CP only, CL only, or CL + CP?
- CL + CP - 45% (most common developmental case)
- 30% CP only
- 25% CL only
what are the relative prevalences of syndromic clefting?
- 30% of patients with CL + CP
- 50% of patients with syndromic cleft palate only (CPO)
what is pierre robin sequence?
- CP
- mandibular micrognathia
- glossoptosis (downward displacement)
what are environmental factors responsible for nonsyndromic clefting?
- maternal alcohol or cigarette use
- folic acid deficiency
- corticosteroid use
- anticonvulsant therapy
what is the likelihood that a person affected with nonsyndromic clefting will have offspring or siblings who are also affected?
5%
the lateral facial cleft results from the lack of fusion of the ___ and ___ processes. it accounts for ___% of all facial celfts
- maxillary and mandibular processes
- <0.5%
an oblique facial cleft results from the failure of fusion of the ___ with the ___; it extends from the ___ to the ___, and is almost always associated with ___
- lateral nasal processes with the maxillary process
- upper lip to the eye
- CP
a median cleft of the upper lip results from the failure of fusion of the ___ processes; is it common or rare?
- medial nasal processes
- it is very rare
___ are one of the most common major congenital defects
orofacial celfts
what is the prevalence of orofacial clefts among asians, native americans, african americans, and caucasians?
- native americans
- asians
- caucasians
- african americans
is CL + CP more common in males or females?
males
the more severe the defect, the greater the male predilection
is CPO (cleft palate only) more common in males or females?
females
the more severe the defect, the greater the female predilection
what is a submucous palatal cleft?
- appears as a bluish midline discoloration
- surface is intact, but defect exists in the underlying musculature of the soft palate
- a bone notch will be present on the posterior hard palate margin
___ are mucosal invaginations that occur at the corners of the mouth on the vermillion border
commissural lip pits
are commissural lip pits associated with facial or palatal clefts? what is the treatment?
neither, and no treatment is required
___ are congenital invaginations of the lower lip
paramedian lip pits
are paramedian lip pits usually unilaterally or bilaterally located? what is the treatment?
- bilaterally located
- no treatment except evaluate for syndrome (or for esthetics)
___ syndrome is the greatest significance of paramedian lip pits
van der Woude syndrome
describe van der Woude syndrome
- autosomal dominant
- CL + CP
- paramedian lip pits
- most common form of syndromic clefting (2% of all CL + CP)
what is a double lip?
redundant fold of tissue on mucosal side of lip
what does a double lip result from?
congenital or acquired (trauma or oral habits)
is a double lip more common on the upper or lower lip?
upper > lower
a double lip is only noticeable when the patient does what?
tenses lip (smile)
what is the treatment for a double lip?
no treatment except for esthetics
what is ascher syndrome?
- double lip (usually acquired)
- blepharochalasis (eyelid edema)
- nontoxic thyroid enlargement
fordyce granules are ___ sebaceous glands
ectopic
fordyce granules are present in ___% of the population
80% (this is actually a variation of normal)
fordyce granules clinically appear as ___
yellow or yellow-white papular lesions
what are the most common locations of fordyce granules?
buccal mucosa and lateral portion of vermillion of uper lip
are fordyce granules more common in adults or children?
adults; puberty appears to stimulate development
what is the treatment for fordyce granules?
no treatment required
leukoedema affects up to ___% of african american adults and ___% of african american children
90% and 50%
why is leukoedema more prevalent in the african american population?
likely because background mucosal pigmentation in african americans makes the edematous changes more noticeable
is leukoedema a variation of normal?
yes
what does leukoedema look like clinically?
- typically appears as diffuse, gray-white, milky, opalescent lesions found bilaterally on buccal mucosa
- does not rub off
- white appearance disappears when cheek is stretched = clinical diagnosis
what is the treatment for leukoedema?
no treatment
___ is the term for an abnormally small tongue
microglossia
is microglossia syndromic or nonsyndromic?
usually syndromic
syndromic microglossia usually has what associated limb features?
- hypodactylia (absence of digits)
- hypomelia (hypoplasia of part of all of a limb)
- rarely, the entire tongue may be missing
what is the term for a missing tongue?
aglossia
aglossia is frequently associated with ___, and ___ may be missing
- hypoplasia of the mandible (micrognathia)
- lower incisors may be missing
what is the treatment of aglossia?
depends on nature and severity of condition
what is the term for an abnormally large tongue?
macroglossia
macroglossia is most frequently caused by what?
- vascular malformations
- muscular hypertrophy
- other etiologies - lymphangioma, down syndrome, amyloidosis, angioedema, tumors
macroglossia is most common in what population?
children
what condition may be manifested by noisy breathing, drooling, and difficulty in eating or speaking?
macroglossia
severe cases of macroglossia can cause ___
airway obstruction
what is beckwith-wiedmann syndrome?
- macroglossia is a characteristic of the syndrome
- patients have increased risk for several childhood tumors
- most cases are sporadic
what is the treatment for macroglossia?
depends on cause and severity of condition
what is described as a developmental tongue abnormality characterized by a short, thick lingual frenum resulting in limitation of tongue movement?
ankyloglossia (aka tongue-tied)
akyloglossia is seen in up to ___% of neonates
4%
what is the male:female ratio of the prevalence of ankyloglossia?
4:1
M:F
in other words, it is 4x more common in males than females
___ may cause problems with speech and breastfeeding
ankyloglossia
what is the treatment for ankyloglossia?
- no treatment required if asymptomatic; condition could be self-correcting
- frenectomy or frenuloplasty otherwise - wait until age 4-5
describe a lingual thyroid
- thyroid gland begins as an epithelial proliferation in the floor of the pharyngeal gut during week 3-4 of embryogenesis
- during week 7, the thyroid bud normally descends into the neck - located at the junction of the anterior 2/3 and posterior 1/3 of the tongue in midline
- if primitive gland doesn’t descend normally, ectopic thyroid can be found between the foramen cecum and the epiglottis - 90% of ectopic thyroids are found here
lingual thyroids are more common in males or females?
up to 7x more common in females
in ___% of cases, lingual thyroids are the patients only thyroid tissue
70%
what are the symptoms of lingual thyroid?
- arise during puberty, adolescence, pregnancy, or menopause
- dysphagia, dysphonia, dyspnea
- presents as a nodule on posterior tongue at the midline
1/3 of patients with lingual thyroid have ___
- hypothyroidism
- lingual thyroid enlargement may be secondary to compensate for thyroid hypofunction
how is a lingual thyroid diagnosed?
thyroid scan (using iodine isotopes or technetium-99m), CT, and/or MRI
why is a biopsy not indicated to diagnose a lingual thyroid?
risk of hemorrhage and may be patients only functioning thyroid tissue
describe a fissured tongue
- aka scrotal tongue
- tongue exhibits multiple grooves/furrows on dorsal tongue
what is the prevalence of fissured tongue in children and adults?
up to 5% of children and 30% of adults
grooves in a fissured tongue can measure from ___-___ in depth
2-6mm
what is the cause of fissured tongue?
unknown cause
is fissured tongue usually symptomatic?
no, it is usually asymptomatic, but there can be possible mild burning
fissured tongue has a strong association with ___
geographic tongue
fissured tongue is a component of ___ syndrome
melkersson-rosenthal
what is the treatment for fissured tongue?
no treatment except to brush the tongue
benign migratory glossitis and erythema migrans are other terms for ___
geographic tongue
is geographic tongue developmental?
no
geographic tongue is a common ___ condition
inflammatory
what is the female:male ratio of the prevalence of geographic tongue?
2: 1
female: male
what is the common location of geographic tongue?
dorsal and/or lateral tongue
is geographic tongue usually symptomatic?
no, it is usually asymptomatic, but may burn or hurt
what is hairy tongue characterized by?
marked accumulation of keratin on the filiform papilla of the dorsal tongue
what is the etiology of hairy tongue?
- unknown etiology; many patients are heavy smokers
- could also be due to poor oral hygiene, antibiotics, or radiation therapy
hairy tongue is usually asymptomatic, but what are some possible symptoms?
- gagging sensation
- bad taste
- halitosis
- esthetics
what is coated tongue?
- some patients with hairy tongue have a white dorsal tongue without hairlike filiform projections
- due to bacterial and desquamated epithelial cells
hairy tongue may cause ___
halitosis
what is the treatment for hairy tongue?
tongue brushing/scraping with OHI is adequate treatment
what are varicosities?
superficial dilated veins
varicosities are rare in ___ and more common in ___
children, adults
varicosities are not associated with ___ or ___
hypertension or cardiopulmonary disease
what is the most common type of oral varicosity?
sublingual varix
varicosities affect how many patients over the age of 60?
2/3
how do varicosities most commonly appear?
multiple, blue-purple, elevated or papular nodules on ventral and lateral tongue
are varicosities usually symptomatic?
no
varicosities commonly occur on the ventral and lateral tongue, but can occur on ___, and they may be ___
- lips/buccal mucosa
- thrombosed
- *these will feel like a bb
___ is a calcified varicosity
phlebolith
what is the treatment for varicosities?
no treatment, except solitary varicosities on the lips or buccal mucosa because of thrombus formation or esthetics
___ is a main arterial branch that extends up into the superficial submucosal tissues without a reduction in its diameter
caliber persistent artery
caliber persistent arteries occur almost exclusively on ___
lip mucosa
what is the unique feature of caliber persistent arteries?
pulsation
what is the treatment for caliber persistent arteries?
no treatment
___ results in limitation of mandibular movement
coronoid hyperplasia
what is the M:F ratio of coronoid hyperplasia prevalence?
5:1
M:F
is unilateral or bilateral coronoid hyperplasia more common?
bilateral
in coronoid hyperplasia, the mandible will deviate towards or away from the affected side?
towards
___ is self-limiting, excessive growth of one of the condyles
condylar hyperplasia
in condylar hyperplasia, the mandible will deviate toward or away from the affected side?
away
for example, a patient with right condylar hyperplasia will have a mandible that deviates to the left
___ are localized bony protruberances
exostoses
exostoses arise from the ___
cortical plate
what are the best known exostoses?
- torus palatinus
- torus mandibularis
other than torus plalatinus and mandibularis, what are the 3 other types of exostoses?
buccal, palatal, and solitary exostoses
what is the treatment for exostoses?
no treatment except removal if trauma is an issue
___ is a bilateral row of bony hard nodules along the facial of the alveolar ridge
buccal exostoses
are buccal exostoses more common in the maxilla or mandible?
maxilla
buccal exostoses are found in up to ___% of adults
20%
___ exostoses develop from the lingual side of the maxillary tuberosities
palatal
are palatal exostoses usually unilateral or bilateral?
bilateral
are palatal exostoses more common in males or females?
males
up to ___% of the population has palatal exostoses
70%
patients with palatal exostoses usually have accompanying ___
palatal or mandibular tori
___ is a common exostosis (up to ___% of adults) that occurs in the midline of the hard palate
- torus palatinus
- 35%
what is the F:M ratio of the prevalence of torus palatinus?
2:1
F:M
what are the possible morphologic appearances of torus palatinus?
- flat - broad base with smooth surface
- spindle - midline ridge or median groove
- nodular - multiple protuberances, each with an individual base
- lobular - multiple protuberances, arise from a single base
- sessile or pedunculated
what is the treatment for torus palatinus?
no treatment unless there is trauma
___ is a common (up to 20% of adults) exostosis that develops along the lingual aspect of the mandible
torus mandibularis
bilateral torus mandibularis is found in ___% of the affected population
90%
torus mandibularis is slightly more common in males or females?
males
what is the treatment for torus mandibularis?
no treatment necessary unless trauma is an issue or prior to fabrication of denture
___ is also known as a lingual mandibular salivary gland depression that presents as a focal concavity of the cortical bone in the lingual surface of the mandible
stafne defect
with stafne defects, is salivary gland tissue histologically normal or abnormal?
normal
how does a stafne defect classically present?
an asymptomatic, well-circumscribed radioluscency below the mandibular canal in the posterior mandible, between the molar teeth and the angle of the mandible
are stafne defects usually unilateral or bilateral?
usually unilateral, but can be bilateral
stafne defects are found in up to ___% of adults, 90% of which are male or female?
- 0.5%
- 90% in males
what is the treatment for stafne defect?
no treatment
radiograph periodically
what are two other terms for eagle’s syndrome?
stylohyoid syndrome and carotid artery syndrome
what is eagle’s syndrome?
calcification of the stylohyoid ligament that attaches the stylohyoid process to the lesser cornu of the hyoid bone
what are the symptoms of eagle’s syndrome?
- vague facial pain while swallowing, turning the head, or opening the mouth
- dysphagia, dysphonia, headache, dizziness
what is the definition of a cyst?
pathologic cavity lined by epithelium
cysts are typically ___-filled
fluid
what is the pathogenesis of cysts?
uncertain
once cysts develop in the oral and maxillofacial region, they slowly increase in size due to ___
elevated hydrostatic luminal pressure
palatal cysts of the newborn are called ___
epstein’s pearls
palatal cysts of the newborn (epstein’s pearls) occur along the ___
median palatal raphe
palatal cysts of the newborn (epstien’s pearls) likely occur from ___
entrapped epithelium along fusion line
___ are small, 1-3mm white or yellow papules that usually occur at the midline near the hard and soft palate junction
bohn’s nodules
where are bohn’s nodules located?
scattered all over the hard palate, usually near the junction of the soft palate
___ likely occur from epithelial remnants from the minor salivary glands
bohn’s nodules
bohn’s nodules are present in up to ___% of infants
85%
what is the treatment of bohn’s nodules?
none, is it self-healing
___ appears as a swelling of the upper lip, lateral to the midline, resulting in elevation of the ala of the nose
nasolabial cyst
what are the two theories of the pathogenesis of nasolabial cysts?
- cyst arises from epithelial remnants entrapped along the line of fusion of the maxillary, medial nasal, and lateral nasal processes
- cysts develops from misplaced epithelium of the nasolacrimal duct
nasolabial cysts are most commonly found in what age patient?
30-50
what is the F:M ratio of the prevalence of nasolabial cysts?
3:1
F:M
are nasolabial cysts usually symptomatic?
no
are nasolabial cysts usually unilateral or bilateral?
usually unilateral, but 10% are bilateral
are nasolabial cysts common?
no, they are rare
what is the treatment for nasolabial cysts?
requires surgical removal
how many cases of globulomaxillary radioluscencies have been reported?
37
what are the two most common histological diagnoses of globulomaxillary radioluscencies?
radicular cyst and periapical granuloma
___ is the most common non-odontogenic cyst of the oral cavity
nasopalatine duct cyst (aka incisive canal cyst)
___ is an embryologic structure connecting the oral and nasal cavities in the area of the incisive canal
nasopalatine duct cyst
how does a nasopalatine duct cyst present on a radiograph?
well circumscribed radioluscency in/near the midline of anterior maxilla, between and apical to the central incisors; no root resorption
what is the upper limit diameter of normal size for an incisive foramen, and how does this relate to a nasopalatine duct cyst?
- 6mm diameter is the upper limit
- anything larger is considered a nasopalatine duct cyst
- anything smaller than this is normal unless there are clinical signs of pain, swelling, or drainage
rarely, a ___ can develop in the soft tissues of the incisive papilla without bony involvement. what are these lesions called, and what is the clinical presentation?
- nasopalatine duct cyst
- these lesions are called cysts of the incisive papilla
- they may have a bluish coloration as a result of the fluid contents in the cyst lumen
how is a nasopalatine duct cyst diagnosed? what is the treatment?
- biopsy is mandatory because the lesion cannot be diagnosed radiographically
- treated by surgical enucleation
___ often arise after localized inflammation of the hair follicle and occur in acne-prone areas of the back (adults), head (kids), and neck
epidermoid cysts
___ are the most common type of follicular cysts of the skin
epidermoid cyst (80%)
are epidermoid cysts more common in males or females?
males
what is the clinical presentation of epidermoid cysts?
- nodular, fluctuant, subcutaneous lesion
- white or yellow unless inflamed
about what percent of all follicular cysts of the skin are pilar cysts?
15%
___ occur on the scalp and are derived from the hair follicle
pilar cysts
are pilar cysts more common in males or females?
females
what is the treatment for pilar cysts?
conservative surgical excision
a ___ is a benign, cystic form of a teratoma
dermoid cyst
are epidermoid cysts of the skin the same as epidermoid cysts of the oral cavity?
no
epidermoid cysts of the oral cavity are the simplest expression of a teratoma. they do not arise from the hair follicle and are different from the much more common epidermoid cyst of the skin
a ___ is lined by epidermis-like epithelium and contains dermal adnexal structures in the cyst wall
dermoid cyst
a dermoid cyst occurs at the midline as a ___
submucosal fluctuant swelling at the FOM
what population are dermoid cysts most common in?
children and young adults
what is the treatment for dermoid cysts?
surgical removal
thyroglossal duct cysts develop from what?
epithelial remnants of the thyroglossal tract
50% of thyroglossal duct cysts are diagnosed before what age?
20
___ presents as a painless, fluctuant, muvable swelling at or near the midline, usually inferior to the hyoid bone
thyroglossal duct cyst
___ develop in 1/3 of thyroglossal duct cyst cases
fistulous tracts to the skin
what percentage of thyroglossal duct cysts are carcinoma?
1%
what is the treatment for a thyroglossal duct cyst? what is the % chance for reccurance?
surgical removal
10% recurrence
oral lymphoepithelial cysts develop within ___
oral lymphoid tissue
Waldeyer’s ring (palatine tonsils, lingual tonsils, pharyngeal adenoids)
lymphoid aggregates/accessory oral tonsils are found in what 3 places?
- floor of mouth (most common, 50%)
- ventral tongue
- soft palate
how do oral lymphoepithelial cysts present?
white or yellow, asymptomatic, submucosal mass less than 1cm in diameter
oral lymphoepithelial cysts are most common in what population?
young adults
what is the treatment for oral lymphoepithelial cysts?
biopsy or clinical diagnosis
a branchial cleft cyst is also called a ___
cervical lymphoepithelial cyst
where do branchial cleft cysts typically occur?
upper lateral neck along the anterior border of the SCM as a soft, fluctuant mass in patients ages 20-40
2/3 occur on the left neck
what is the treatment for a branchial cleft cyst?
surgical removal
___ is a rare developmental anomaly characterized by an asymmetric overgrowth of one or more body parts (ex. unilateral macroglossia)
hemihyperplasia
what are the 3 syndromes associated with hemihyperplasia?
- beckwith-wieldemann syndrome
- neurofibromatosis
- proteus syndrome
___ is a form of atrophy affecting one side of the face, some cases have a history of trauma, and many features are similar to localized form of scleroderma
progressive hemifacial atrophy
recent reports consider infection of what bacterial species to be the cause of progressive hemifacial atrophy?
borelia spp
___ is a painless, unilateral enlargement of the maxillary bone, along with overgrowth of overlying gingiva
segmental odontomaxillary dysphagia
what is frequently missing in cases of segmental odontomaxillary dysplasia?
one or both of the developing maxillary premolars
___ syndrome is characterized by craniosynostosis (premature closing of the cranial sutures)
crouzon syndrome; craniofacial dysostosis
what are some facial/head shapes characteristic of crouzon syndrome/ craniofacial dysostosis?
- brachycephaly (short head)
- scaphocephaly (boat-shaped head)
- trigonocephaly (triangle head)
the most severe cases of crouzon syndrome/ craniofacial dysostosis demonstrate a ___ skull
“cloverleaf” skull (kleeblatt-schadel deformity)
ocular proptosis and underdeveloped maxilla can occur in what syndrome?
crouzon syndrome/ craniofacial dysostosis
a skull x-ray of a patient suffering from crouzon syndrome will exhiit a ___ pattern
“beaten-metal”
___ is the result of a mutation of fibroblast growth factor receptor 2 on chromosome 10q26
crouzon syndrome; craniofacial dysostosis
what are the characteristics of apert syndrome (acrocephalosyndactyly) that are not oral?
- ocular proptosis
- hypertelorism
- downward slant of lateral palebral fissures
- syndactyly of 2nd, 3rd, and 4th digits of hands and feet
- mental retardation
what are the oral characteristics of apert syndrome (acrocephalosyndactyly)?
trapezoid shape to lips (open mouth), 3/4 have cleft soft palate or bifid uvula
___ results from defects of structures derived from 1st and 2nd branchial arches
mandibulofacial dysostosis; treacher-collins syndrome
what are the characteristics of mandibulofacial dysostosis, treacher-collins syndrome?
- hypoplastic zygoma
- coloboma (notch on outer portion of lower eyelid)
- underdeveloped mandible