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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
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