Lec. Dr. Ban F.

Ibraheem
DEVELOPMENTAL DEFECTS OF THE ORAL & MAXILLOFACIAL REGION

I- Developmental defects of the oral mucosa. V- Developmental cysts.

II- Developmental defects of the tongue. VI- Developmental alteration of the teeth.
III- Developmental defects of the lips and palate. VII-Environmental alteration of the teeth.
IV- Developmental defects of the jawbones.

I. Developmental defects of the oral mucosa

1. Fordyce’s granules (Q38.60 ):
They are ectopic sebaceous glands that occur in various locations
within the oral cavity, most commonly seen bilaterally on the buccal
mucosa & the mucosal surface of upper lips. Clinical: multiple small-
yellowish-white multifocal spots of a few mms diameter, asymptomatic (slightly roughness). They are
considered a normal anatomic variation, occurring in > 80% of the population. They are more common in
adults than children, probably due to hormonal factors. No treatment.

2. Leukoedema:
Common, unknown cause, asymptomatic diffuse, translucent, grayish-
white, filmy appearance frequently folded on bilateral aspects of buccal
mucosa, which, when stretched, is significantly reduced (not rub off). This aids
in differentiating this lesion from other similar-looking conditions
(leukoplakia, candida, L.P). They were more commonly seen in dark skin than
in whites. No treatment.
3. White sponge nevus (Q38.61):
An autosomal dominant hereditary condition characterized by whitish thickening can involve entire oral
mucosa.No treatment is required, only reassurance.(DD: leukoplakia, leukodema, LP, chronic biting,
dyskeratosis).

II. Developmental Defects of the Tongue

1.Microglossia (Q38.35): It is an uncommon, abnormally small tongue of unknown cause. Treatment:
surgical and orthodontics may improve oral function.
2. Macroglossia:(Uncommon)(Q38.2X )
An abnormally large tongue could be congenital or acquired. Congenital Macroglossia: as seen
with Down’s syndrome, hemangioma, lymphangioma, cretinism, and hemihyperplasia. Acquired
Macroglossia: in Amyloidosis, Acromegaly, Cancer., edentulous patient.

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It is manifested by: noisy breathing, drooling, and difficulty in eating, which affects speech and jaw
development. Clinically, the tongue has scalloped lateral borders; the patient may have an open bite&
mandibular prognathism. Treatment: depend on severity (surgery+speech therapy).

3. Ankyloglossia:(Tongue Tie) (Q38.1)

It is characterized by a short, thick lingual frenum resulting in
limitation of tongue movement. The frenum sometimes extends forward,
attaches to the tip of the tongue, and there may be a slight clefting of the
tip of the tongue. Occasionally, high mucogingival attachment of the
lingual frenum may lead to local gingival and periodontal diseases in the
regional frenal attachment. And minor speech difficulties. It is common in
boys. Treatment: in severe cases, a frenectomy is postponed until age 4-5
years.

4. Geographic Tongue: (Benign Migratory Glossitis)(K14.1)

The lesion appears as large, red, atrophic patches on the tongue with
a white, slightly raised, often C-shaped border. These patches resolve in
days to weeks, and papillae regenerate. Usually, lesions are multiple &
occur on the dorsal surface of the tongue. The red areas are devoid of
filiform papillae, whereas the white areas show hypertrophy of the papillae.
The condition is recurrent. Therefore, the lesion appears to migrate from
one place to another. The condition is important because it can be confused with a more serious form of
glossitis and even premalignant or malignant lesions. D.D.: psoriasis, plasma cell stomatitis, a mucous
patch of 2nd syphilis.

5. Fissured Tongue: (scrotal Tongue)(K14.5 )

Relatively common, many grooves and fissures are present on the
dorsal surface of the tongue. The condition is usually asymptomatic, or they
may complain of mild burning or soreness. Severity increase with age, more in male, a strong association
has been found between fissured &geographic tongue. Treatment: non-specific, encourage patient to brush
his tongue (food debris acts as an irritant).

6. Black Hairy Tongue(K14.31):

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Characterized by a marked accumulation of keratin on the filiform papillae of the dorsal surface of
the tongue resulting in a hair-like appearance. It represents an increase in keratin production or a decrease
in normal keratin desquamation. Associated factors: Antibiotic therapy, poor oral hygiene, debilitation, use
of oxidizing mouthwashes or anti-acids, overgrowth of bacteria or fungi. Clinically: affect midline, sparing
lateral and anterior border (lateral and anterior border, typically seen in hairy leukoplakia). Elongated
filiform papillae are usually brown, yellow, or black due to tobacco and food, overgrowth of pigment-
producing bacteria, or fungi. The patients may either be asymptomatic or complain of a gagging sensation
or a bad taste in the mouth. Treatment: avoid predisposing factors and
frequent tongue brushing.

7. Lingual Varicosities:
Abnormal dilated tortuous veins may be seen along the ventral
surface of the tongue& tend to become more prominent with age. The
patient had multiple bluish-purple elevated blebs on the ventral and lateral borders of the tongue. They are
asymptomatic except in rare cases where a secondary thrombus is formed. No treatment.

8. Lingual Thyroid Nodule(Q89.23):

Ectopic accessory accumulation of thyroid tissue (usually functional)
within the body of the posterior tongue. It represents a thyroid remnant in the
region of the thyroid gland origin. It is seen more common in females,
apparent during puberty& adolescence. It appears 2-3 cm, smooth, sessile
mass on the mid-posterior dorsum of the tongue in the region of foramen
caecum. Symptoms: dysphagia, dysphonia, dyspnea, and hypothyroidism. Diagnosis: scan for thyroid by
iodine isotopes. C.T. and MRI to identify its size. Avoid excision. Treatment: if asymptomatic, no
treatment, just follow up. In symptomatic patients, hormonal therapy; surgery with autotransplantation to
reduce the size and decrease symptoms to prevent hypothyroidism.

III. Developmental Defects of Lips & Palate

1. Orofacial clefts:

i. Cleft lip & palate: They are more in Asian >white> black people.
Cleft lip: (25%)Developing defect usually of the upper lip characterized by a wedge-shaped defect
resulting from the failure of two lip parts to fuse into a single structure.
Cleft Palate: (30%, and more in females)Developmental defect of the palate, characterized by a lack of

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complete fusion of the two lateral portions of the palate, resulting in communication with a nasal cavity.
Classification:
1- Cleft lip( Q36): Unilateral (80%) with or without anterior alveolar ridge cleft.
Bilateral (20%) with or without anterior alveolar ridge cleft.
2- Cleft palate (Q35): Bifid uvula, soft palate only(more in male), both hard&soft palate (more in
female)
3- Combined lip & palate clefts (Q37) (45%, more in male)
- Unilateral (complete or incomplete).
- Cleft palate with bilateral cleft lip(complete or incomplete).
Etiology:
Cleft lip & cleft palate involve both hereditary & environmental factors. Most clefts are polygenic
(influenced by several different genes acting together). Every individual carries some genetic liability for
clefting, and only if the combined liability of the parents exceeds a minimum threshold dose, clefting
occurs in their offspring.

Environmental Factors: include

1- Physiologic, emotional, or traumatic stress
2- Nutritional deficiency or excess of vitamin A& Riboflavin deficiency.
3- Mechanical obstruction by an enlarged tongue.
4- Relative ischemia to the area.
5- Substances like alcohol, drugs & toxins.
6- Infections.

Clinical Features:
Cleft lip with or without cleft palate occurs in 1/ 1000 birth. They are more common in males than in
females, but the isolated cleft palate is more common in females. Complete clefts involving the alveolus
usually occur between lateral incisors & canine. Most cleft palates are unilateral & mainly on the left side.
The complete cleft lip extends upward into the nostril, but an incomplete one does not involve the nose.
Submucous palatal clefts may develop where the surface mucosa is intact. However, there is a defect in the
underlying musculature of the soft palate, with a notch in the bone present along the posterior margin of
the hard palate, which appears as a bluish midline discoloration & it is associated with the cleft uvula.
Treatment: pediatrician, maxillofacial surgeon, otolaryngologist, plastic surgeon, pediatric dentist,
orthodontist, prosthodontist, speech pathologist, geneticist.

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ii-Oblique Facial Cleft:

It represents a failure of fusion of the lateral nasal process with the maxillary process. It extends from the
upper lip to the eye & always associated with the cleft palate.
iii-Lateral Facial Cleft:
It results from a lack of fusion of maxillary & mandibular processes. It occurs as isolated defects or may be
associated with disorders such as Mandibular Dysostosis. It occurs either unilaterally or bilateral, extending
from the commissure toward the ear resulting in Macrostomia.

2. Double lip (rare):

This anomaly is characterized by a horizontal fold of redundant
mucosal tissue, usually located on the inner aspect of the upper lip. Most
often occurs as congenital in nature, but it may be acquired later in life when
it is associated with non-toxic thyroid enlargement & enlargement of the upper eyelid, which is the
component of ( Ascher Syndrome). Alternatively, it may result from trauma or oral habits such as sucking
on the lip. Clinical: upper lip more affected. The condition is unnoticed during rest, but an excess fold of
the tissue is visible when the patient smiles. Treatment in severe cases is surgical excision for esthetic.

3. Congenital lip pits:

Developmental defects may involve the paramedian portion of the vermilion of the lower and upper
lip (paramedian lip pit) or the labial commissure area (commissural lip pit).
Paramedian lip pit (rare): Presents as bilateral & symmetric fistulas on either
side of the midline of the vermilion of the lower lip. It occurs as an isolated
condition or may be associated with cleft lip or palate. Treatment: excised for
cosmetic reasons.
Commissural lip pits (common): it affects males more than females. A small mucosal invagination occurs
at the corner of the mouth on the vermilion border. It may represent a failure of
fusion of the maxillary process & mandibular process. It is either unilateral or
bilateral. Clinically, it presents as a blind fistula that may extend to a depth of
1-4 mm, or it may be present as dilated ectopic salivary gland tissue. Patients
are unaware of their presence. Fluids may be expressed if they are squeezed—
treatment: non.

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IV.Developmental Defects of the Jaw Bones

1. Macrognathia(K07.02): Large Jaw. This defect occurs either due to local or to systemic conditions.
Local: Fibrous dysplasia of bone, reactive or neoplastic bone tumor, odontogenic cysts & tumors.
Systemic: Acromegaly & Paget’s disease of bone.
2. Micrognathia(K07.05): Very small jaw
It involves either the mandible or the maxilla or both jaws. The condition gives rise to numerous dental
problems. In addition, Micrognathia may be associated with other developmental defects like in Pierre
Robin’s Sequence, characterized by Cleft palate, Micrognathia& Glossoptosis, Posterior displacement of
the tongue, Lack of support of tongue musculature, and Airways obstruction.
3. Bony Exostosis: Localized bony protuberance that arises from the normal cortical plate. In an adult,
buccal exostosis occurred as a bilateral row of hard bony nodules along the facial aspect of the
max./mand. alveolar ridge. Asymptomatic unless ulcerated from trauma. Palatal exostosis: similar but
developed on the lingual aspect of max. tuberosity/ bilateral/ in males.
Histology: mass of dense lamellar cortical bone. Treatment: surgery to accommodate the dental prosthesis.
The most common oral exostosis is Torus Palatinus& Torus mandibularis. They are hard bony mass,
small, less than 2 cm, slowly growing, and asymptomatic. X-ray: radiopacity on periapical film
pronounced in females.
Torus Palatinus (K1O.O1): Common & occur in the midline of the vault of the hard palate.
Multifactorial in origin & classified according to their morphology
into:
- Flat torus, which has a broad base
- Spindle torus appears as a midline ridge
- Nodular torus appears as multiple protuberances.
- Lobular torus appears as a lobulated mass arising from a single base.
Torus Mandibularis (K1O.OO):
It appears as a bony protuberance along the lingual aspect of the mandible above the mylohyoid line in
the region of the premolars. Bilateral involvement occurs in about 90% of cases &as a single nodule. The
patient is unaware unless the overlying mucosa becomes ulcerated 2nd to trauma. X-ray: periapical film
radiopacity superimposed on roots of the teeth. The occlusal film is easily visualized.

4. Coronoid Hyperplasia
Rare developmental anomalies result in the limitation of mandibular movement. The condition may be
unilateral, which results from osteoma& osteosarcoma, or bilateral, resulting from endocrine influence

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during puberty. More in males. X-ray: irregular elongation of process. Treatment surgery.
5. Condylar Hyperplasia:(uncommon)(K1 0.81)
Excessive growth of one condyle is an unknown cause, but local circulatory problems, endocrine
disturbances & trauma have been suggested as possible etiologic factors. Clinical: facial asymmetry,
prognathic, crossbite, open bite. X-ray: irregular enlargement. Treatment: surgery.
6. Condylar Hypoplasia(K1 0.82):
Congenital: associated with Mandibulofacial dysostosis & HemifacialMicrosomia .
Acquired: results from disturbances of the growth center of the developing condyle secondary to
trauma, radiation, or rheumatoid arthritis.

7. Bifid Condyle:
The double-headed mandibular condyle of uncertain cause. Antero-posterior bifid condyle may be
traumatic during childhood, while mediolateral bifid condyle may result from abnormal muscle
attachment.

8. Hemifacial Hypertrophy(Q67.41 ) :
Significant unilateral enlargement of the face occurs due to an increased neurovascular supply to the
affected side of the face. Unilateral enlargement of the facial tissues, bones& teeth is usually present,
resulting in asymmetry of the face with malocclusion & deviation of the affected side of the face to the
unaffected side.
9. Hemifacial Atrophy(469.40 ):
An uncommon, poorly understood degenerative condition characterized by atrophic changes affecting
one side of the face. The mouth& nose have deviated toward the defective side. The covering skin often
exhibits dark pigmentation.

10. Lingual mandibular salivary gland depression (Staphne defect ) (K10.02)

Asymptomatic, developmental concavity of the cortex on the lingual
surface of the mandible in the third molar area forms around an accessory
lateral lobe of the submandibular gland. It has the radiographic
appearance of a well-circumscribed radiolucent lesion within the bone,
usually below the inferior alveolar canal. In most cases, a biopsy
revealed histologically normal salivary gland tissue suggesting that these
lesions represent developmental defects containing a portion of the submandibular gland. It is stable in
size. Diagnosis: on clinical and typical radiograph location and lack of symptoms. Treatment: non.

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11. Mandibular Dysostosis (Treacher-Collins Syndrome):

An autosomal dominant disorder characterized by hypoplastic zygoma (resulting in a narrow face with
depressing cheek&downward slanting of palpebral fissures) and an underdeveloped mandible with
retruded chin & cleft palate may be seen.

12. Cleido Cranial Dysostosis:

Abnormal growth of facial bone, skull & clavicle with a concomitant tendency for the failure of
tooth eruption. The patient can oppose the shoulders to near the midline of the chest. His frontal &
occipital are bossing with an enlarged head. The patient retains primary dentition into adulthood, and
supernumerary teeth may be seen radiographically.

13. Eagle syndrome(Stylohoid syndrome):

There is the elongation of the styloid process and mineralization of the stylohyoid ligament complex. It
is a slender bony projection that originates from the inferior aspect of the temporal bone, anterior and
medial to the stylomastoid foramen. Maybe asymptomatic or show Eagle syndrome (caused by
impingement or compression of adjacent nerve or blood vessel). Clinical: adult patients express vague
facial pain, especially while swallowing, turning the head, and opening the mouth. It can be seen by
radiograph (panoramic and lateral jaw). Treatment: according to severity. Patient assurance, local injection
of corticosteroids, surgical excision.