L2 | DENT317 | 18 September 2023 - Developmental Defects of the Oral and Maxillofacial Region.pdf

Developmental Defects of the Oral and Maxillofacial Region Oral Pathology & Medicine Dent 317 Dr. Jessie Fuoco Developmental Defects of the Oral and Maxillofacial Region • • • • • • • • • • Orofacial clefts Lip pits Double lip Fordyce granules Leukoedema Microglossia Macroglossia Ankyloglossia Li...

Developmental Defects of the Oral and Maxillofacial Region Oral Pathology & Medicine Dent 317 Dr. Jessie Fuoco Developmental Defects of the Oral and Maxillofacial Region • • • • • • • • • • Orofacial clefts Lip pits Double lip Fordyce granules Leukoedema Microglossia Macroglossia Ankyloglossia Lingual thyroid Fissured tongue • • • • • • • • • • Hairy tongue Varicosities Caliber-persistent artery Lateral soft palate fistulas Coronoid hyperplasia Condylar hyperplasia Condylar hypoplasia Bifid condyle Exostoses Torus palatinus Developmental Defects of the Oral and Maxillofacial Region • • • • • • • • • Torus mandibularis Eagle Syndrome Stafne defect Palatal cysts of the newborn Nasolabial cyst Nasopalatine duct cyst Follicular cysts of the skin Dermoid cyst Thyroglossal duct cyst • Branchial cleft cyst • Oral lymphoepithelial cyst Hemihyperplasia • Progressive hemifacial atrophy • Segmental odontomaxillary dysplasia • Crouzon syndrome • Apert syndrome • Mandibulofacial dysostosis Orofacial Clefts Cleft Lip and Cleft Palate Cleft lip only Cleft palate only Cleft Lip & Palate Many are isolated anomalies • Hereditary and environmental factors • Polygenetic • Some associated with >400 developmental syndromes • Single-gene syndromes, chromosome anomalies, or idiopathic • • • • Cleft Lip and Cleft Palate • 3 categories of cleft lip: • Microform cleft lip • Incomplete cleft lip • Complete cleft lip • Bilateral Cleft lip (20%) • Unilateral cleft lip and palate • Bilateral cleft lip and palate • Cleft (bifid) Uvula - the minimal manifestation of cleft palate • Incomplete cleft palate • Complete cleft palate Cleft Lip and Cleft Palate • Multidisciplinary approach • Surgical repair often involves multiple procedures in childhood and depends on severity of defect • Cleft lip - surgical repair usually during first few months • Cleft palate - surgical repair usually between 7-15 months of age • Genetic counselling Iatrogenic Loss of Soft Palate Commissural Lip Pits • Small mucosal invaginations that occur at the corners of the mouth on the vermilion border • Unilateral or bilateral • Blind 1-4 mm invagination or pit • In some cases, a small amount of fluid may be expressed when the pit is squeezed • Requires no treatment Commissural Lip Pits Paramedian Lip Pits (Congenital Lip Pits) • Rare congenital invaginations of the lower lip • Usually bilateral and symmetric fistulas on either side of midline of the lower lip vermilion • Can also express salivary secretions • Usually part of a syndrome with cleft lip and/or cleft palate • No treatment necessary - can be excised for cosmetic reasons Paramedian Lip Pits Double Lip • Redundant mucosal tissue seen as a horizontal fold • Congenital or acquired • Acquired may be a component of Ascher syndrome or due to a lip sucking habit • Upper lip affected more often • Usually evident when patient smiles • No treatment required or cheiloplasty for aesthetic reasons Ascher Syndrome • Cause uncertain • Characterized by a triad: • Double lip • Blepharochalasis (sagging of the eye lids) • Nontoxic goiter (enlargement) Ascher syndrome Nontoxic Goitre Enlarged Thyroid Gland Fordyce Granules • Sebaceous glands that occur on the oral mucosa • Dermal adnexal structures - considered ectopic in oral cavity • Present >80% of the population - considered normal anatomic variation • Multiple small 1-2 mm yellowish submucosal dots • Bilateral buccal mucosa & lateral upper lip vermilion • Less common retromolar area & anterior tonsillar pillar Fordyce Granules • Only a few to hundreds • No treatment is needed • Sebaceous hyperplasia may occur and are seen as a larger yellow papule Fordyce Granules – Buccal Mucosa Fordyce Granules – buccal mucosa Fordyce Granules - Lip Fordyce Granules - Retromolar Leukoedema • Common oral mucosal condition of unknown cause • Occurs more commonly in blacks than in whites • Variation of normal • Asymptomatic • Due to accumulation of intracellular fluid (edema) Leukoedema • Characterized by a diffuse, gray-white, milky, opalescent appearance of the mucosa • The surface frequently appears folded, resulting in wrinkles or whitish streaks • The lesions do not rub off • Typically on bilateral buccal mucosa and may extend forward onto the labial mucosa Leukoedema • Clinical diagnosis • Perform the stretch test! • Leukoedema should disappear or be greatly reduced when stretched • If is does not, think leukoplakia Leukoedema Leukoedema Leukoedema – Less Evident When Stretched Microglossia • An uncommon developmental condition of unknown cause that is characterized by an abnormally small tongue. • Can be isolated microglossia, associated with other anomies or part of a syndrome Macroglossia • An uncommon condition characterized by enlargement of the tongue • The enlargement may be caused congenital malformations and acquired diseases • The most frequent causes are vascular malformations and muscular hypertrophy Macroglossia - Congenital & Hereditary Causes • Vascular malformations/hemangioma • Lymphangioma • Hemihyperplasia • Cretinism • Beckwith-Wiedemann syndrome • Down syndrome • Duchenne muscular dystrophy • Mucopolysaccharidoses • Neurofibromatosis type I • Multiple endocrine neoplasia, type 2B Macroglossia =Lymphangioma Macroglossia = Lymphangioma Macroglossia - Acquired Causes • Edentulous patients - complete or partial edentulous not wearing dentures • Amyloidosis • Myxedema • Acromegaly • Angioedema • Myasthenia gravis • Amyotrophic lateral sclerosis • Carcinoma and other tumours Macroglossia = Amyloidosis Ankyloglossia (Tongue-Tie) • A developmental anomaly of the tongue characterized by a short, thick lingual frenum resulting in limitation of tongue movement • Occurs in 0.1-16% of neonates • Most cases appear to be sporadic • Can range in severity from mild to severe • May attach to the tip of the tongue and slight cleating of the tip may be seen Ankyloglossia (Tongue-Tie) • May interfere with speech - most can compensate • May attach to the gingiva and cause gingival recession • With the increase in popularity of breast-feeding over the past several decades, clinicians have related tongue-tie with feeding problems, such as nipple pain or difficulty in the baby attaching to the breast • Treatment usually not necessary • For infants with specific breast-feeding problems, a frenotomy may be performed • Treat by excision if necessary - electrocautery Ankyloglossia Ankyloglossia Ankyloglossia Ankyloglossia Lingual Thyroid • Embryologically if the primitive gland does not descend normally, ectopic thyroid tissue may be found between the foramen cecum and the epiglottis • Rare but may present as mass of thyroid tissue on posterior dorsum of tongue • More frequent in females • May be the patient’s only thyroid tissue (70%) Lingual Thyroid • Can range from small, asymptomatic, nodular lesions to large masses that can block the airway • Diagnosis is best established by thyroid scan using iodine isotopes or technetium-99m (99mTc). • Computed tomography (CT), magnetic resonance imaging (MRI), and ultrasonography can be helpful in delineating the size and extent • Avoid biopsy due to risk of hemorrhage and because it may be the only functioning thyroid tissue • No treatment needed if asymptomatic • Treatment with supplemental thyroid hormone (Synthroid) may reduce the size Lingual Thyroid Lingual Thyroid -Nuclear Medicine Scan Fissured Tongue (Scrotal Tongue) • A relatively common condition that is characterized by the presence of numerous grooves, or fissures, on the dorsal tongue surface • Multiple grooves, or furrows, on the surface of the tongue, ranging from 2 to 6 mm in depth • 2-5% of the population • Strong association with geographic tongue Fissured Tongue Fissured Tongue Hairy Tongue (Black Hairy tongue, Coated Tongue) • Characterized by marked accumulation of keratin on the filiform papillae of the dorsal tongue, resulting in a hairlike appearance • Due to increase in keratin production or a decrease in normal keratin desquamation • Usually asymptomatic - some complain of a gagging sensation or bad taste Hairy Tongue is seen in: • • • • • Smokers General debilitation Poor oral hygiene Dry mouth Head and Neck radiotherapy Hairy Tongue • Hairy tongue most commonly affects the midline just anterior to the circumvallate papillae • The elongated papillae are usually brown, yellow, or black as a result of growth of pigment-producing bacteria or staining from tobacco and food Hairy Tongue - Treatment • Correct predisposing factors • Tongue scraper Black Hairy Tongue Black Hairy Tongue Transitory black staining - rapidly resolves after discontinuation of medication Varicosities (Varices) • Varicosities, or varices, are abnormally dilated and tortuous veins • Age appears to be an etiologic factor • The most common type of oral varicosity is the sublingual varix, which occurs in two-thirds of people older than 60 years of age. Varicosities (Varices) • Sublingual varicosities classically present as multiple blue-purple, elevated or papular blebs on the ventral and lateral border of the tongue • Sublingual varicosities typically are asymptomatic, and no treatment is indicated • Lesions of an aesthetic concern may be treated with sclerotherapy or surgically removed Caliber-Persistent Artery • A common vascular anomaly in which a main arterial branch extends up into the superficial submucosal tissues without reduction in its diameter • More frequent in older adults • Occurs almost exclusively on the labial mucosa especially upper lip • Presents as a linear, arcuate, or papular elevation ranging from pale to normal to bluish colour • No treatment necessary • Often mistaken for a mucocele or other lesion and biopsied - brisk bleeding typically encountered Caliber-Persistent Artery Exostoses • Exostoses are localized bony protuberances that arise from the cortical plate • Buccal exostoses occur as a bilateral row of bony hard nodules along the facial aspect of the maxillary and/or mandibular alveolar ridge • May be related to stresses placed on the bone from teeth function • Usually asymptomatic, unless the thin overlying mucosa becomes ulcerated from trauma Exostoses Exostoses Bone formation associated with Free Gingival Grafts Torus Palatinus • The torus palatinus is a common exostosis that occurs in the midline of the vault of the hard palate • Bony hard mass that arises along the midline suture of the hard palate • Most palatal tori are small, measuring less than 2 cm in diameter; however, they can slowly increase in size throughout life—sometimes to the extent that they fill the entire palatal vault. • Most are asymptomatic, but in some cases the thin overlying mucosa may become ulcerated secondary to trauma Torus Palatinus Torus Mandibularis • The torus mandibularis is a common exostosis that develops along the lingual aspect of the mandible • Bony protuberance along the lingual aspect of the mandible above the mylohyoid line in the region of the premolars • 90% bilateral • Easily visualized on occlusal radiographs Tori Mandibularis Torus Mandibularis - May Appear as a Radiopacity Oral Tonsils • Intraoral lymphoid tissue • Waldeyer ring = palatine + pharyngeal (adenoids) + lingual tonsils • Lingual tonsils - intraoral lymphoid tissue on the posterior lateral borders of the tongue • “Foliate papillitis” - foliate papillae may become hyperplastic in response to infection or inflammation • Site for HPV related oral squamous cell carcinomas Lingual Tonsil Lymphoid tissue Lymphoid Tissue and Scar from Tonsillectomy Circumvallate Papilla Frenal Tag • • • • Maxillary labial frenum Redundant tissue seen as a 1-2 mm papule No treatment is required Recommend observation Frenal Tag Retrocuspid Papilla • Developmental lesion that occurs on the gingiva lingual to the mandibular cuspid • Small pink papule that measures less than 5mm in diameter • Unilateral or frequently bilateral • More prominent in children - suggesting that it disappears with age Retrocuspid Papilla Stafne Defect (Lingual Mandibular Salivary Gland Depression) • A focal developmental concavity on the lingual surface of the mandible that forms around an accessory lobe of submandibular salivary gland • Radiographic - well circumscribed radiolucency with a sclerotic border BELOW the mandibular canal in the posterior mandible • Most unilateral • CT/CBCT or MRI can be used to confirm the diagnosis when in doubt Stafne Defect Stafne Defect Stafne Defect Stafne Defect Hyperplasia of Soft Tissues and Salivary Gland Tissue • This occurs when an edentulous space has been present for many years • The soft tissues and underlying salivary tissue protrudes into the space • The patient is asymptomatic and the tissue is soft Hyperplasia of Soft Tissues and Salivary gland Tissue Floor of Mouth with Herniation Hyperplasia of Soft Tissues and Salivary Gland Tissue Developmental Cysts Palatal Cyst of the Newborn (Epstein’s pearls; Bohn’s Nodules) • Common small developmental cysts found on the palate of newborn infants • Small 1-3mm white papules • Epstein’s pearls: occur along the median palatal raphe, and are thought to arise from epithelium entrapped along the line of fusion • Bohn’s nodules: scattered laterally over the hard palate or soft palate, and are thought be derived from the minor salivary glands • No treatment required - self-healing Palatal Cyst of the Newborn (Epstein’s pearls) Nasolabial Cyst (Nasoalveolar cyst, Klestadt cyst) • A rare developmental cyst that occurs in the upper lip lateral to the midline • In soft tissues of anterior mucobuccal fold beneath ala of the nose • Remnants of nasolacrimal duct • Occur in 4th or 5th decade • Lined by pseudostratified columnar epithelium • Complete surgical excision Nasolabial Cyst Nasolabial Cyst Nasopalatine Duct Cyst (Incisive canal cyst) • The most common nonodontogenic cyst of the oral cavity • Believed to arise from remnants of the embryonic nasopalatine duct within the incisive canals • Intraosseous cyst (teeth vital) of the midline anterior maxilla • Many asymptomatic and discovered on routine radiographs • Well circumscribed oval/heart-shaped radiolucency in or near the midline anterior maxilla • Treatment: Surgical enucleation Nasopalatine Duct Cyst Nasopalatine Duct Cyst Nasopalatine Duct Cyst Nasopalatine Duct Cyst Nasopalatine Duct Cyst Nasopalatine Duct Cyst Cyst of the Incisive Papilla • Rare • A nasopalatine duct cyst that develops entirely in soft tissue • No bone involvement • No radiographic findings Cyst of the Incisive Papilla Patent Nasopalatine Canal Epidermoid Cyst (Epidermal Inclusion Cyst) • Often mistakenly called a “sebaceous cyst” • Keratin-filled cyst derived from the follicular infundibulum • Often arise after localized inflammation of the hair follicle • Lined by stratified squamous epithelium • Epidermal inclusion cyst - arise after traumatic implantation of epithelium • Occasional intraoral cases • Treatment: conservative excision Epidermoid Cyst (Epidermal Inclusion Cyst) Epidermoid Cyst (Epidermal Inclusion Cyst) Oral Epidermoid Cyst • Occur in the midline floor of mouth region • Represent the minimal manifestation of the teratoma - dermoid cyst - epidermoid cyst spectrum Dermoid Cyst • The dermoid cyst is an uncommon developmental cystic malformation • The cyst is lined by epidermis-like epithelium and contains dermal adnexal structures in the cyst wall • It is generally classified as a benign cystic form of teratoma Dermoid Cyst • Most occur in the head and neck region around skin of eyes, upper neck or floor of mouth • Children and young adults • Painless mass of doughy consistency • Surgical excision Dermoid Cyst Dermoid cyst Dermoid Cyst Ovarian Dermoid Cyst Ovarian Dermoid Cyst Ovarian Dermoid Cyst Dermoid Cyst - Doughy Thyroglossal Duct Cyst (Thyroglossal Tract Cyst) • Cyst that develops from epithelial remnants of the thyroglossal duct • Cyst that develops in the midline, anywhere from base of tongue to anterior midline of neck • Most below hyoid bone • Children and young adults • May contain thyroid tissue in the cyst wall • Surgical excision - Sistrunk procedure – removal of cyst with a portion of hyoid bone and muscular tissue, to reduce likelihood of recurrence Thyroglossal Duct Cyst Thyroglossal Duct Cyst Thyroglossal Duct Cyst- Sistrunk Procedure Lymphoepithelial Cysts • Oral Lymphoepithelial Cysts • Cervical Lymphoepithelial Cysts – (Branchial Cleft Cyst) Oral Lymphoepithelial Cysts • Develops where oral lymphoid tissue is found • Anterior floor of mouth, posterior lateral border of tongue, soft palate, oropharynx • Tonsillar crypt becomes obstructed or pinched off from the surface, producing a keratin-filled cyst within lymphoid tissue • Asymptomatic • White or yellow submucosal nodule usually <1cm in diameter • Conservative surgical excision if diagnosis uncertain Oral Lymphoepithelial Cyst Oral Lymphoepithelial Cyst Oral Lymphoepithelial Cyst Oral Lymphoepithelial Cyst Branchial Cleft Cyst (Cervical Lymphoepithelial Cyst) • A developmental cyst derived from remnants of the branchial arches • Lateral aspect of the neck, usually anterior or deep to the SCM muscle • Late childhood/ early adulthood • Most are stratified squamous epithelium, with lymphoid tissue in the cyst wall Branchial Cleft Cyst • Painless swelling +/- draining fistula • Squamous cell carcinoma almost NEVER arises from a lymphoepithelial cyst. • If you have carcinoma associated with a “cyst” in the neck always suspect metastatic carcinoma • Surgical excision Branchial Cleft Cyst Acknowledgement Thank-you to Dr. Peter Chauvin for his clinical images