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Developmental Defects
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1Developmental Defects and Variations
Dr. John KoutlasDivision of Oral Pathology
All pictures are intellectual property of the Division of Oral and Maxillofacial Pathology or its Faculty. Duplication or
any unauthorized use is prohibited.
Linea Alba
Buccal mucosa, less common tongue Pressure, friction, sucking trauma Restricted to dentulous areas More prominent on posterior mucosa HistDx: Hyperkeratosis
Pits (Fistulas) Commissural lip pits
12-20% of adults; 0.2-0.7% in children Males > Females Unilateral or bilateral Accentuated with age? or not developmental? Failure of processes to fuse Blind fistulas; sometimes saliva Infection can occur Associated with hearing loss, preauricular pits, rib
anomalies Combination with paramedian (one case reported)
2Pits (Fistulas) Paramedian lip pits
Blind ends Presence of salivary glands van der Woude syndrome (AD)
Interferon regulatory factor 6 gene mutations (role in fusion of lip and palate); chr 1 long arm
Pits and cleft lip and/or cleft palate Mental retardation; dental malformations (hypodontia)
Popliteal pterigium syndrome Same gene Popliteal webs Cleft lip and/or cleft palate Syngnathia (webs connecting upper & lower jaw)
3Double Lip
Redundant fold Congenital (persistence of the pars glabrosa and
pars villosa) and acquired (trauma, habits) Ascher (Laffer-Ascher) syndrome
Double lip Blepharochalasis (Fuchs 1896)
Edema of the upper eyelid; vision interference Hyperplasia of lacrimal glands with prolapse of orbital fat
Nontoxic thyroid enlargement (50%) DiffDx: angioedema, tumor
Fordyce Granules
Sebaceous glands Ectopic or normal anatomic variation Buccal mucosa, lips, tonsillar pillar Adults > Children (puberty stimulates development) Glands with ducts; no hair Hyperplasia, cystic transformation, tumors (extremely
rare)
4Sebaceous glands Sebaceous gland
Duct Interesting note
Recent evidence indicates an increase in size and number of sebaceous glands following activation of the hedgehog pathway, a crucial signaling pathway for animal development that is aberrantly activated in several types of cancer.
Unrecognized activation of the sebaceous glands system occurs in HNPCC
Leukoedema
Diffuse grayish-white appearance of mucosa Blacks > Whites (racial pigmentation may make this
variation more prominent) Variation, not a disease More prominent in smokers, poor oral health Buccal mucosa extending to the lips Vagina, larynx Hyperplastic epithelium; intracellular edema No treatment DiffDx: Lichen planus, other leukoplakic lesions,
dentifrice stomatitis (chemical burn)
5Microglossia Oromandibular-limb hypogenesis syndromes
Hypodactyly Hypomelia Underdeveloped organs Some potential etiologic factors
Lithium during pregnancy Chorionic villi sampling procedures
6Macroglossia
Congenital and hereditary Vascular malformations Hemihyperplasia Cretinism Beckwith-Wiedemann syndrome
Omphalocele, visceromegaly, gigantism, hypoglycemia, Wilms tumor, adrenal or liver tumors (hepatoblastoma)
Down syndrome NF 1 MEN 2B
Macroglossia
Acquired Edentulous patients Amyloidosis Myxedema Acromegaly Angiedema Tumors
Ankyloglossia
NEVER FORGET THAT THE TONGUE IS SHORT AT BIRTH
Far more common in boys than girls Complete ankyloglossia extremely rare Relation to open bite ? Relation to periodontal disease Dyspnea (epiglottis comes forward) Breast-feeding Speech articulation Mechanical tasks such as licking the lips and kissing
7Lingual Thyroid Birth of the thyroid & foramen cecum Small remnants of thyroid can be found in the tongue ~75% of pts with infantile hypothyroidism have
lingual thyroid 33% have hypothyroidism Females >> males Nodule of varying size
Dysphonia, dysphagia Large nodules can cause sleep apnea
May be the only functioning thyroid tissue Goiter, Graves disease have been described
Rare examples of thyroid carcinoma (MALES) Lingual thyroid in a cat
Fissured Tongue
Grooves and fissures More prevalent in whites, blacks; less in Mexican
Americas Entire tongue or part Usually asymptomatic Prevalence increases with age Strong association with geographic tongue and
Melkersson-Rosenthal syndrome Tongue brushing
8Melkersson-Rosenthal syndrome
1. Fissured tongue
2. Cheilitis granulomatosa
3. Facial paralysis
Hairy Tongue DO NOT CONFUSE IT WITH HAIRY LEUKOPLAKIA Marked hyperkeratinization of filiform papillae Less than 1% Causes
Smoking, antibiotics, POH, radiation, debilitated pts Staining (bacteria, coffee, tobacco) Oxidizing mouthwashes or antacids Overgrowth of fungal or bacterial organisms Medications: olanzapine, fluoxetine hydrochloride, thiothixene
hydrochloride, benztropine mesylate, and clonazepam (antipsychotic meds)
Asymptomatic Treatment
Brushing Shaving DO NOT USE KERATOLYTIC AGENTS (If you do not know how)
9Bizarrities
Unilateral hairlike discoloration of the tongue was described in a patient with ipsilateral mandibular division trigeminal neuralgia. This unusual physical sign coincided with the patient's painful trigger zone and was attributed to hypertrophy of keratinized filiform papillae, where guarded avoidance of mechanical stimulation over time prevented normal desquamation.
Varicosities
Dilated and tortuous vein Age-related (60% of older individuals) Loss of connective tissue tone No association with hypertension or CPD Sublingual area Multiple or solitary (lips, buccal mucosa) Phleboliths
Caliber-Persistent Artery
Uncommon Lower and less often upper lip Bilateral Pulsating (you feel it with bare fingers) Age-related Associated with ulceration; DiffDx: SCCa No tx necessary Arterial bleeding during surgery
10
Vazquez et al. J Ultrasound Med 2005
Lateral Soft Palate Fistulas
Congenital or the result of trauma or surgey Bilateral or unilateral Shallow or deep perforations Can be associated with anomalies such
absence or hypoplasia of tonsils, hearing loss, preauricular defects
Coronoid Hyperplasia Rare 5M:F Unilateral or bilateral (5x) Restricted mouth opening Deviation towards the affected site Jacobs disease (pseudojoints with the zygomatic
arches; association with osteochondroma of the coronoid process)
CT better than panoramic Tx is problematic
Fibrosis Coronoid regrowth
Akan & Mehreliyeva Dentomaxillofac Radiol. 2006 Jan;35(1):55-9
Condylar hyperplasia
Uncommon; more common than coronoid Trauma, endocrine or circulatory cause Part or not of hemifacial hyperplasia Facial asymmetry, prognathism, open bite Occasional compensatory maxillary growth
and tilting of the occlusal plane Condylectomy
11
Condylar hypoplasia Congenital or acquired Many syndromes
Treacher Collins Oculoauricularvertebral Hemifacial microsomia
During development Trauma, radiation
Degenerative arthritis
Bifid Condyle
Double head (lateral and medial; less often anterior-posterior)
Unilateral (less often bilateral) Can be asymptomatic
Exostoses
Bony protuberance Palatinus and Mandibularis Buccal exostoses: facial Palatal exostoses: lingual aspect of tuberosity Solitary exostoses: trauma Subpontic osseous hyperplasia Mass of non-neoplastic bone with minimal marrow Can be ulcerated and painful
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Torus Palatinus
Midline of palatal vault Multifactorial, genetic predisposition Flat, spindle, nodular, lobular Rarely show on PAs More women than men Surgical excision to accommodate prosthesis
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Torus Mandibularis
Lingual aspect of mandible Multifactorial Bilateral Single or multiple nodules PAs: Periapical opacities that can be confusing Not as common as torus palatinus Surgical excision to accommodate prosthesis
Eagle syndrome Stylohyoid syndrome Elongation of the styloid process or
mineralization of the stylohyoid ligament Bilateral and less often unilateral Most asymptomatic After tonsillectomy Clinical syndrome
Vague facial pain (swallowing, turning head, opening mouth)
Headache, dizziness, otalgia, transient syncope
Eagle syndrome
Treatment choicesNo treatmentCotricosteroid injectionSurgical excision of the elongated process or mineralized ligament
14
Stafne Defect (Static Bone Cyst)
Radiolucency with sclerotic border Near angle of mandible (below the canal)
Anterior and upper ramus rarely Usually normal salivary glands
Submandibular, sublingual, parotid Asymptomatic Striking male predilection Developmental but not present from birth Sialogram
Queiroz et al, 2004 JOMFS
15
Geographic Tongue
Migratory glossitis (stomatitis) 1-3% of population; females twice more often Wandering patients ? Hypersensitivity reaction; ? hormonal role Usually asymptomatic ? Association with psoriasis (HLA-Cw6) Patient reassurance; topical steroid; zinc
16