Developmental Defects of the Oral and Maxillofacial Region

CHAPTER 1

Dr.kheirandish DDS,MSC Oral and maxillofacial pathology OROFACIAL CLEFTS Free Template from www.brainybetty.com 4 o Defective fusion of the medial nasal process with the maxillary process : cleft lip (CL) o Failure of the palatal shelves to fuse : cleft palate (CP)

 CL + CP 45%  Only CP 30%  Only CL 25%

 Alcohol consumption  Cigarette smoking  Phenytoin  Folic acid supplementation o Clefting is one of the most common major congenital defects in humans o Native americans o Asian o Whites o Blacks CL

 80% unilateral  20% bilateral  70% of unilateral (left side) CP

 Range in severity  Hard and soft palates or the soft palate alone

 Minimal manifestation : cleft or bifd uvula Submucous palatal cleft o Mucosal surface is intact o Defect exists in the underlying musculature of the soft palate o associated cleft uvula Lateral facial cleft  Lack of fusion of the maxillary and mandibular processes  Unilateral or bilateral  Isolated defect

Associated with other disorders: • Mandibulofacial dysostosis • oculo-auriculo-vertebral spectrum • nager acrofacial dysostosis • Amniotic rupture sequence Oblique facial cleft

 Extends from the upper lip to the eye  Rare  Some of these clefts  Failure of fusion of the lateral nasal process With the maxillary process Median cleft of the upper lip

 Extremely rare  Failure of fusion of the medial nasal processes  Oral-facial-digital syndromes  Ellis-van creveld syndrome Pierre robin sequence (pierre robin anomalad)

 CP  Mandibular micrognathia  Glossoptosis  Isolated phenomenon

 Associated with a syndromes Stickler syndrome velocardiofacial syndrome COMMISSURAL LIP PITS  Small mucosal invaginations  Corners of the mouth on the vermilion border  Failure of normal fusion of the embryonal maxillary and mandibular Processes  Congenital lesions  Adults  Males  Routine examination

 Unilateral or bilateral

 Blind fstulas (depth of 1 to 4 mm)

 Saliva

 Not associated with facial or palatal clefts

 Preauricular pits  Narrow invagination lined by stratifed squamous epithelium  Minor salivary glands o Asymptomatic o No treatment o Salivary secretions o Secondary infection PARAMEDIAN LIP PITS Congenital fistulas of the lower lip Congenital lip pits  Congenital invaginations  lower lip  Persistent lateral sulci on the embryonic mandibular arch(6 weeks) Bilateral and symmetric fistulas Subtle depressions to prominent humps Depth of 1.5 cm Combination with (CL) and/or (CP) o Van der woude syndrome o Popliteal pterygium syndrome o Kabuki syndrome DOUBLE LIP  Rare  Upper lip  At rest  Redundant fold of tissue on the mucosal of the lip  Congenital  Acquired

Acquired double lip:  Ascher syndrome  Trauma  Oral habits Ascher syndrome : 1) Double lip 2) Blepharochalasis 3) Nontoxic thyroid enlargement (50%)  Abundance of minor salivary glands  Hyperplasia of the lacrimal glands

 Severe cases(aesthetic purposes) FORDYCE GRANULE  Sebaceous glands that occur on the oral mucosa  Genital mucosa  Ectopic  80% … Normal anatomic variation  Multiple yellow or yellow-white papules  Buccal mucosa  Adults  Asymptomatic

 Resemble normal sebaceous glands

LEUKOEDEMA  Common  Unknown cause  Blacks (70% to 90% of adults)  Normal variation  Vagina and larynx  Smokers  Diffuse, gray-white, milky,opalescent  Bilaterally on the buccal

 Easily diagnosed : white appearance greatly diminishes or disappears when the cheek is everted and stretched

 Increase in thickness of the epithelium  Intracellular edema  Pyknotic nuclei  Parakeratinized  Rete ridges are broad and elongated

 No treatment o Leukoplakia o Candidiasis o Lichen planus MICRO GLOSSIA (HYPO GLOSSIA)  Uncommon  Unknown  Aglossia  Oromandibular-limb hypogenesis syndromes  Mandiblular hypoplasia and missing of lower incisors

 Surgery and orthodontics

MACRO GLOSSIA  Uncommon  Congenital malformations and acquired diseases  Vascular malformations and muscular hypertrophy

 Children  Mild to severe

 Crenated lateral border  Open bite  Mandibular prognathism

 Airway obstruction

Beckwithwiedemann syndrome • Omphalocele • Visceromegaly • Gigantism • Neonatal hypoglycemia

 Childhood visceral tumors (wilms tumor, adrenal carcinoma, hepatoblastoma, rhabdomyosarcoma, and neuroblastoma)  Hypothyroidism,beckwith-wiedemann syndrome : diffuse, smooth, generalized enlargement.

 Amyloidosis ,neurofbromatosis and multiple endocrine neoplasia, type 2b : multinodular appearance

 Lymphangiomas : pebbly and exhibits multiple vesicle-like blebs

 Down syndrome: papillary, fssured surface.

 Hemifacial hyperplasia and neurofbromatosis : unilateral enlargement  Muscular enlargement occurs in those With hemihyperplasia and beckwith-wiedemann syndrome.

 Down syndrome or in edentulous patients, no histologic abnormality can be detected. ANKYLO GLOSSIA (TONGUE- TIE) Short, thick lingual frenum limitation of tongue movement Boys

Slight clefting of the tip Anterior open bite Periodontal problem

No treatment Age 4 or 5 LINGUAL THYROID Third to fourth week of fetal life Seventh embryonic week Anterior to the trachea and larynx Foramen cecum Ectopic thyroid Between the foramen cecum and the epiglottis(90%)  Posterior dorsal tongue (10%)  Females (hormonal influences)  Symptoms (puberty, adolescence, pregnancy, or menopause)  70% (only thyroid tissue)

 Small to large  Dysphagia, dysphonia, and dyspnea  Hypothyroidism (33%)  Thyroid scan  (CT), (MRI)  Biopsy  No treatment  Follow-up  Symptomatic  Carcinomas (males, older than 30 y/o) FISSURED TONGUE (SCROTAL TONGUE)  Common  Numerous grooves, or fssures, on the dorsal tongue surface  Heredity / aging / local environmental factors  Asymptomatic  Mild burning or soreness  Geographic tongue  Melkersson-rosenthal syndrome

 Rete ridges hyperplasia  Loss of the keratin (fliform papillae)  PMN migrating into the epithelium microabscesses

 Brush the tongue HAIRY TONGUE (BLACK HAIRY TONGUE; COATED TONGUE)  Accumulation of keratin on the fliform papillae of the dorsal tongue o Increase in keratin production o Decrease in normal keratin desquamation  Cause…uncertain

 Heavy smokers  General debilitation  Poor oral hygiene  Drugs (xerostomia)  Radiation therapy  Lateral and anterior borders  Elongated papillae (brown, yellow, or black)  Bacteria \tobacco \food  Asymptomatic  Gagging sensation \ bad taste  Biopsy Coatedtongue

 Bismuth subsalicylate (control upset stomach)  Bismuth sulfide  Rapidly resolves  Elongation and hyperparakeratosis of the fliform papillae \ bacteria  Aesthetic \ bad breath

 Scraping or brushing

 Hairy leukoplakia  Lateral border  EBV  HIV  Immunosuppressive conditions VARICOSITIES (VARICES) Abnormally dilated and tortuous veins Age-related Loss of connective tissue tone supporting the vessels Sublingual varix o Multiple blue-purple, elevated or papular blebs on the o Ventral and lateral border of the tongue o Asymptomatic o Secondary thrombosis

Solitary varices (lips and buccal mucosa)

Thrombosed varix (firm, nontender, blue-purple nodule) . Dilated vein . Wall (little smooth muscle)

Secondary thrombosis Layered zones of platelets and erythrocytes

 Dystrophic calcifcation phlebolith Phlebo = vein; lith = stone

Solitary varicosities  Diagnosis  Aesthetic CALIBER- PERSISTENT ARTERY  Common  Main arterial branch extends up into the superfcial submucosal tissues without a reduction in its diameter.  Older adults  Age-related degeneration

 Lip  Bilateral \ both lips

 Linear, arcuate , papular elevation

 Pale to normal to bluish  Stretching  Pulsation (vertically and lateraly)  Asymptomatic

 Thick-walled artery situated close to the mucosal surface

 No treatment o Mucocele o Varix o Hemangioma

 Brisk bleeding LATERAL SOFT PALATE FISTULAS

 Congenital  Infection or surgery of the tonsillar region

 Bilateral  Anterior tonsillar pillar  Asymptomatic

. Absence or hypoplasia of the palatine tonsils . Hearing loss . Preauricular fstulas

CORONOID HYPERPLASIA Rare Limitation of mandibular movement Males (3-5) o Endocrine influence o Heredity Unilateral (tumor) or bilateral (4) Unilateral . Mandibular opening . Mandibular deviation (affected side) . Pain . Irregular, nodular growth of the tip of the coronoid process

Bilateral o Limitation of mandibular opening o Regular elongation of both processes

 CT scans

 Surgical removal  Coronoidectomy or coronoidotomy CONDYLAR HYPER PLASIA Uncommon Female (3 :1)

. Local circulatory problems . Endocrine disturbances . Trauma

 Hemifacial hyperplasia

 Facial asymmetry  Prognathism  Crossbite  Open bite . Condylar head enlargement . Condylar neck elongation . Hyperplasia of the entire ramus

 Bone activity(scintigraphy)

 During active growth proliferation of cartilage  Normal histologic appearance

 Self-limiting condition  Unilateral condylectomy

CONDYLAR HYPO PLASIA Congenital or acquired

Congenital (head and neck syndromes)  Mandibulofacial dysostosis  Oculoauriculovertebral syndrome  Hemifacial microsomia

Condylar aplasia

Acquired  Trauma  Infections  Radiation therapy  Rheumatoid arthritis Unilateral or bilateral Class II malocclusion Mandibular midline shifts to the involved side Panoramic Surgery BIFID CONDYLE

 Rare o Trauma o Abnormal muscle attachment o Teratogenic agents

 Unilateral

. Asymptomatic . “Pop” or “click” of the TMJ . Trifid \ tetrafid

 Temporomandibular therapy EXOSTOSES  Localized bony protuberances  Benign  Torus palatinus \ torus mandibularis

Buccal exostoses Bilateral Row of bony hard nodules Facial Asymptomatic Ulcerated Palatal exostoses (Palatal tubercles) Lingual aspect of the maxillary tuberosities Bilateral Males

Solitary exostoses Local irritation Graft (stimulant)

Reactive subpontine exostosis  Dense, lamellar,cortical bone  Fibrofatty marrow

 Biopsy  Surgical removal TORUS PALATINUS  Common exostosis  Genetic \ environmental factors  Midline

Classification 1) Flat 2) Spindle 3) Nodular 4) Lobular Small No symptoms Racial differences (asian and inuit) Female (2 :1) Dynamic lesions  Dense, lamellar, cortical bone

 Surgical removal TORUS MANDIBULARIS Common exostosis Lingual aspect of the mandible Genetic and environmental Bilateral (90%) Single nodules  Occlusal radiographs  Male  Bruxism \ number of teeth  Recur EAGLE SYNDROME (STYLOHYOID SYNDROME; CAROTID ARTERY SYNDROME; STYLALGIA)

 Elongation of the styloid process  Mineralization of the stylohyoid ligament complex  Bilateral  Asymptomatic  Eagle syndrome Adults Women Vague facial pain (swallowing, turning the head, mouth opening) Dysphagia\ dysphonia\ otalgia\ headache\ dizziness Panoramic \ lateral-jaw radiographs  Classic eagle syndrome after a tonsillectomy

 Unrelated to tonsillectomy  Carotid artery syndrome or stylohyoid syndrome

 No treatment  Partial surgical excision STAFNE DEFECT Stafne bone cyst Lingual mandibular salivary gland depression Latent bone cyst Static bone cyst Static bone defect Lingual cortical mandibular defect

 Focal concavity of the cortical bone on the lingual surface of the mandible

 Classic stafne defect Asymptomatic radiolucency Below the mandibular canal Posterior mandible Between the molar teeth and the angle

Well circumscribed Unilateral Male “Develops” at a later age Stable in size

Typical radiographic location and lack of symptoms Biopsy

Normal submandibular gland tissue Muscle, blood vessels, fat, connective tissue, lymphoid tissue  DEVELOPMENTAL CYSTS PALATAL CYSTS OF THE NEWBORN (EPSTEIN’S PEARLS; BOHN’S NODULES)  Common( 55% to 85% )  Palate of newborn infants  “Inclusion” cysts Epstein’s pearls Bohn’s nodules

 Papules  Small  White or yellow-white  Cluster of two to six cysts  Gingival cysts of the newborn  Keratin-filled cysts  Stratified squamous epithelium

 Self-healing NASOLABIAL CYST (NASOALVEOLAR CYST; KLESTADT CYST)  Rare  Two major theories  Upper lip lateral to the midline  Swelling  Elevation of the ala of the nose  Fourth and fifth decades  Women(3 : 1)  Maxillary mucolabial fold  Nasal obstruction  Wearing of a denture  Pain (secondarily infected)  Radiographic changes  Underlying bone  Pseudostratified columnar epithelium  Goblet cells and cilia  Cuboidal epithelium

 Complete surgical excision GLOBULO MAXILLARY CYST  Fissural cyst  Globular portion of the medial nasal process with the maxillary process  Fusion  Lateral incisor and canine  Odontogenic basis

 Periapical cysts  Odontogenic keratocyst  Lateral periodontal cyst

 Pseudostratified, ciliated, columnar epithelium.  Radiolucency between the maxillary lateral Incisor and canine) odontogenic origin( NASOPALATINE DUCT CYST (INCISIVE CANAL CYST) o Most common non odontogenic cyst o Arise from remnants of the nasopalatine duct o Fourth - sixth decades …"developmental“ ! o Male

 Swelling of the anterior palate  Drainage  Pain o Asymptomatic : many o “Through-and-through" o Midline o Anterior maxilla o Apical to the central incisor o Well-circumscribed radiolucency o Round or oval or inverted pear (sclerotic border) o Classic heart shape o 6 mm- 6 cm o Large incisive foramen (6 mm)  Cysts of the incisive papilla Epithelial lining (highly variable)

. Stratified squamous epithelium most common (3/4) . Pseudostratified columnar epithelium (1/3-3/4) . Simple columnar epithelium . Simple cuboidal epithelium

More than one epithelial  Type of epithelium related to the vertical position

Cyst wall

. Moderate-sized nerves . Small muscular arteries . Veins . Hyaline cartilage MEDIAN PALATAL (PALATINE) CYST . Rare fissural cyst . Difficult to distinguish from a nasopalatine duct cyst . Young adults

I. Symmetrical along the midline of the hard palate II. Posterior to the palatine papilla III. Ovoid or circular radiographically IV. Nonvital tooth V. Incisive canal VI. Cyst wall

 Clinical enlargement of the palate (midline radiolucency without clinical evidence of expansion nasopalatine duct cyst) MEDIAN MANDIBULAR CYST  Controversial lesion

 Fissural cyst Mandible actually develops as a single

 Odontogenic origin Glandular odontogenic cyst Periapical cysts Keratocysts Lateral periodontal cysts FOLLICULAR CYSTS OF THE SKIN Follicular cysts Epidermoid cyst = Infundibular cyst

Pilar cyst = Tricholemmal cysts

Keratin-filled cysts of the skin

Epidermoid cyst …Midline floor of mouth (teratoma) Epidermoid cyst o 80% of follicular cysts o Gardner syndrome o Stratified squamous epithelium resembling epidermis o Granular cell layer o Lumen is filled with degenerating orthokeratin Pilar cyst o Scalp o women o 10% to 15% o Granular cell layer is absent o lumen is filled with compact keratin DERMOID CYST . Uncommon . Teratoma . Midline of the floor of the mouth . Above the geniohyoid muscle sublingual swelling . Below the geniohyoid muscle submental swelling("double-chin“) . Vary in size (12 cm ) . Children and young adults . Painless . Doughy or rubbery mass  Orthokeratinized stratified squamous epithelium  Prominent granular cell layer

 Cyst wall (one or more skin appendages, such as sebaceous glands. hair follicles, or sweat glands) THYROGLOSSAL DUCT CYST  Thyroglossal duct epithelium (atrophy and is obliterated)  Midline  Occur anywhere from the foramen cecum area of the tongue to the suprasternal notch  Below the hyoid bone : 60% - 80%  First two decades  Painless  Fluctuant  Movable swelling  Move vertically during swallowing or protrusion of the tongue . Columnar or stratified squamous epithelium . Cyst wall … Thyroid tissue

. Carcinoma arising in a thyroglossal duct cyst . 1% . Metastases… rare . prognosis … good BRANCHIAL CLEFT CYST (CERVICAL LYMPHOEPITHELIAL CYST)  Lateral neck

 Remnants of the branchial clefts (95% second branchial arch)

 Anterior border of the SCM muscle

 20 - 40  1 - 10 cm  2/3…left side  Stratified squamous epithelium  Cyst wall … lymphoid tissue HEMIHYPERPLASIA (HEMIHYPERTROPHY)

o Rare o Overgrowth of one or more body parts o Associated with a syndromes o Complex hemihyperplasia o Simple hemihyperplasia o Hemifacial hyperplasia o Female o Right side o At birth o Mentally retarded : 20% o Abdominal tumors o Unilateral macroglossia o mandibular canal … increased in size o Crowns … larger o roots … larger

PROGRESSIVE HEMIFACIAL ATROPHY

(PARRYROMBERG SYNDROME) o Trauma o Borrelia infection o Hereditary o Females o "en coup de sabre" ("strike of the sword") o Trigeminal neuralgia o Mouth and nose are deviated to the affected side o Unilateral posterior open bite o Delayed eruption of the teeth

SEGMENTAL ODONTOMAXILLARY DYSPLASIA (HEMIMAXILLOFACIAL DYSPLASIA) o Childhood o Painless ,unilateral enlargement of the maxillary bone o Gingival fibrous hyperplasia o One or both maxillary premolars … are missing o Enamel defects o Thickened trabeculae o Maxillary sinus (smaller on the affected side) o Lacks significant osteoblastic and osteoclastic activity