Developmental Defects of the Head and Neck

Orofacial Clefts

Congenital deformities of the lip and palate.

Cleft lip

Defective fusion of medial nasal process with maxillary.

Cleft Palate

Defective fusion of palatal shelves.

Frequency of Clefts

CL + CP = 45%, CL only = 25%.

Bifid uvula

Most minimal manifestation of a cleft palate.

Varicosities

Associated with advanced age.

Exostoses

Bony growths that can occur in the oral cavity.

Buccal exostoses

Bilateral row of bony nodules along facial aspect of maxillary &/or mandibular alveolar ridge.

Palatal exostoses (tubercles)

Lingual aspect of maxillary tuberosity, usually bilateral.

Solitary exostoses

May occur in response to local irritation.

Reactive subpontine exostosis

Develops from the alveolar crestal bone beneath the pontic.

Torus Palatinus

Exostoses in the midline of the hard palate, may appear flat, spindle, nodular or lobular, usually <2cm.

Torus Mandibularis

Present along the lingual aspect of the mandible, may appear on periapical films as a radiopacity superimposed on roots.

Stafne Defect

Represents a focal concavity of the cortical bone on the lingual surface of the mandible from the submandibular gland.

Developmental Cysts

Cysts that arise during development.

Palatal Cysts of the Newborn

Treatment & prognosis = self-healing.

Nasolabial Cyst

Rare developmental cyst occurring in the upper lip lateral to midline, no radiographic changes.

Nasopalatine Duct Cyst

Most common non-odontogenic cyst of the oral cavity, soft tissue only = cyst of incisive papilla, radiographic features: >6mm.

Median Palatal (Palatine) Cyst

Rare fissural cyst with specific diagnostic criteria.

Follicular Cysts of the Skin

Most common type is epidermoid cyst.

Epidermoid Cyst

Most common in acne-prone areas of head and neck and back.

Dermoid Cyst

Most common midline floor of mouth.

Thyroglossal Duct Cyst

Anywhere along midline from base of tongue to suprasternal notch.

Lingual Thyroid

70% only gland.

Oral Lymphoepithelial Cyst

Accessory lymphoid tissue located in the floor of mouth, ventral tongue, and soft palate.

Differential Diagnosis of a Lateral Neck Mass

Includes reactive lymphadenopathy, branchial cleft cyst, infectious lymphadenopathy, lymphoma, and metastatic disease (carcinoma, melanoma).

Cleft Lip

Results from defective fusion of medial nasal process with maxillary process.

Cleft Lip Statistics

80% are unilateral (left side more common than right).

Cleft Lip Location

Usually occurs between lateral incisor and cuspid.

Complete Cleft

Complete cleft extends up into nostril; incomplete clefts don't involve the nose.

Cleft Lip Associations

Often associated with missing teeth.

Cleft Palate

Results from defective fusion of palatal shelves.

Cleft Palate Types

Can involve hard and soft palate or soft palate only.

Submucous Palatal Cleft

Submucous palatal cleft has intact surface mucosa but defect in underlying musculature.

Bifid Uvula

Bifid uvula is the most minimal manifestation of cleft palate.

Commissural Pits

Located at corners of mouth, affect 12-20% of population (M>F), not associated with clefts.

Paramedian Pits

Bilateral fistulas on lower lip vermilion, associated with Van der Woude syndrome (most common form of syndromic clefting).

Lingual Thyroid Location

Occurs at posterior dorsal midline of tongue.

Lingual Thyroid Gender Prevalence

More common in females than males.

Lingual Thyroid Symptoms

Presents with dysphagia, dysphonia, and dyspnea.

Lingual Thyroid Appearance

Vascular in appearance.

Lingual Thyroid Prevalence

In 70% of cases, represents the only thyroid tissue present.

Lingual Thyroid Diagnosis

Diagnosis confirmed with thyroid scan using iodine isotopes.

Lingual Thyroid Management

Suppressive therapy with supplemental thyroid hormone is the primary treatment.

Exostoses Definition

Localized bony protuberances from cortical plate.

Buccal Exostoses

Bilateral row of bony nodules along facial aspect of maxillary/mandibular alveolar ridge.

Palatal Exostoses

Found on lingual aspect of maxillary tuberosity, usually bilateral, more common in males.

Torus Palatinus

Midline hard palate exostosis, may appear flat, spindle, nodular or lobular, usually <2cm, female predilection, common in Asians and Inuits.

Stafne Defect

Asymptomatic radiolucency below the mandibular canal, usually between molar teeth and angle of mandible.

Stafne Defect Characteristics

Well-circumscribed with sclerotic border; may interrupt continuity of inferior border with a palpable notch.

Palatal Cysts of Newborn

Epstein's pearls/Bohn's nodules, 1-3mm white-yellow papules, usually along midline near junction of hard and soft palate.

Nasolabial Cyst

Rare cyst in upper lip lateral to midline, causing elevation of ala of nose.

Nasopalatine Duct Cyst

Most common non-odontogenic oral cyst, well-circumscribed radiolucency near midline of anterior maxilla.

Median Palatal Cyst

Rare fissural cyst in midline of hard palate posterior to palatine papilla.

Dermoid Cyst

Most common in midline floor of mouth, lined by orthokeratinized stratified squamous epithelium with skin appendages in cyst wall.

Thyroglossal Duct Cyst

Occurs along midline from base of tongue to suprasternal notch, moves vertically during swallowing if attached to hyoid or tongue.

Branchial Cleft Cyst

Occurs in upper lateral neck, anterior or deep to sternocleidomastoid muscle.

Oral Lymphoepithelial Cyst

Small submucosal cyst in areas with oral lymphoid tissue.