Questions and Answers
Which gene is commonly associated with defects affecting 1st & 2nd branchial arch structures that leads to Treacher Collin's Syndrome?
What is the developmental timeline of a cleft lip with or without cleft palate?
Match the following oral condition with its description:
Fissured tongue = Deep grooves on dorsal tongue Geographic tongue = Deep grooves with 2%-5% population prevalence Solitary varix = Dilated, tortuous veins as age-related degeneration
Which condition is characterized by double-headed condyle with the heads oriented more along the medial-lateral axis than the anterior-posterior axis?
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What is the origin of a nasopalatine duct cyst?
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What is the name of the cyst that occurs in the upper lip, lateral to the midline?
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Which of the following cysts is associated with misplaced nasolacrimal duct epithelium?
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What is the name of the cyst that occurs in the hair follicle?
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Which cyst is the most common non-odontogenic cyst found in the oral cavity?
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What is the location of a nasolabial cyst?
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What type of cyst is derived from thyroglossal tract remnants?
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What is a characteristic of a dermatoid cyst?
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Which of the following cysts is derived from the germlayer?
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What is a characteristic of a gingival cyst?
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Which of the following cysts is typically located in the nasolabial fold?
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Which of the following cysts is a type of odontogenic cyst?
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What is the typical consistency of a dermatoid cyst?
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What is the origin of thyroglossal duct cysts?
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What type of cyst is typically found in the midline of the neck?
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What type of cyst is typically found in the scalp?
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What is the typical location of a Pilar cyst?
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What is the causative factor for Gardner's syndrome?
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What is a feature of a Trichilemmal cyst?
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What is the characteristic feature of sebaceous glands in oral mucosa?
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Which syndrome is associated with blepharochalasis and double lip?
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What is the etiology of Ascher syndrome?
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Which of the following is NOT a characteristic of Ascher syndrome?
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What is the prevalence of sebaceous glands in oral mucosa in the general population?
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What is the timing of developmental defect in congenital conditions?
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Study Notes
Cleft Lip and Palate
- Cleft lip: unilateral > bilateral, left > right
- Cleft lip with cleft palate: more common than isolated cleft lip
- Causes: genetic and environmental factors, maternal EtOH, smoking, anticonvulsants, retinoids, folate deficiency
Bifid Uvula
- A congenital invagination at the commissure of the lip
- Failure of fusion of maxillary and mandibular processes
Commissural Lip Pit
- Congenital invagination on the lower lip near the midline
- Persistence of lateral sulci of embryonic mandibular arch
Ascher Syndrome
- Characterized by double lip, blepharochalasis (edema of the upper eyelid), and non-toxic thyroid enlargement
- Etiology unknown, thought to be autosomal dominant
Ectopic Sebaceous Glands
- Normal anatomic variation found in 80% of the population
- Not truly "ectopic" as they are present in the oral mucosa
Abnormal Tongue Size and Shape
- Hypoglossia (abnormally small tongue): rare, associated with oromandibular limb hypogenesis syndrome
- Macroglossia (enlarged tongue): congenital or acquired, associated with Beckwith-Wiedemann syndrome
Ankyloglossia (Tongue-Tie)
- Failure of descent of the thyroid anlage (3rd to 4th week of development)
- Can be treated with diode laser treatment
Melkersson-Rosenthal Syndrome
- Idiopathic, characterized by intraoral and facial swelling
- Associated with fissured tongue and cheilitis
Fissured and Geographic Tongue
- Fissured tongue: deep grooves on the dorsal surface, found in 2%-5% of the population
- Geographic tongue: benign condition characterized by loss of papillae on the tongue surface
Varices
- Solitary varix: a dilated, tortuous vein, often seen in older adults
- Sublingual varices: relatively common in adults >60 years old
Caliber-Persistent Artery
- A relatively large-caliber artery in a superficial location, often seen in older adults
- May be associated with systemic diseases or trauma
Condylar Hyperplasia
- Unilateral or bilateral enlargement of the condylar head
- Causes: unknown, may be associated with local circulatory problems, endocrine influences, or trauma
Double-Headed Condyle
- Medial-lateral > anterior-posterior heads
- Possible causes: trauma, abnormal muscle attachment, or teratogens
Reactive Subpontine Exostosis
- Localized bony protuberances from the cortical plate
- Causes: unknown, may be associated with genetic and environmental factors, masticatory stress, or heredity
Torus Mandibularis and Torus Palatinus
- Torus mandibularis: a bony outgrowth on the lingual surface of the mandible
- Torus palatinus: a bony outgrowth on the hard palate
Calcified Stylohyoid Ligament or Elongated Styloid Process
- Can impinge on adjacent nerves and vessels
- May occur after tonsillectomy or neck trauma
Stafne Bone Defect
- A lingual cortical concavity of the mandible
- May contain salivary glands, fibrous tissue, or fat
Epstein Pearls
- Small, benign cysts found on the gums or roof of the mouth in neonates
- Formed from embryonic remnants of the dental lamina### Gardners Syndrome
- Caused by APC mutations
- Characterized by keratin-filled cysts arising from hair follicles in skin (Pilar cyst)
Developmental Cysts
- Benign cystic form of teratoma, derived from dit germlayer
- Sublingual dermoid cyst: a case of extending the limits of the oral approach
- Thyroglossal duct cyst: developmental cyst derived from thyroglossal tract remnants
- Branchial cleft cyst: origin from epithelial remnants of branchial arches (especially 2nd arch)
Branchial Cleft Cyst
- Possible estrogen dependency in pathogenesis
- Unusually rapid development of a lateral neck mass: diagnosis and treatment
- Anterior to SCM, treatment: surgical removal, prognosis: recurrence rare
Mandible Maxilla
- Lymphoepithelial cyst: rare developmental condition, etiology unknown
- Atrophy on one side of face, etiology unknown (trauma, Lyme disease, or form of localized scleroderma?)
Craniosynostosis Syndromes
- FGFR2 mutations, autosomal dominant, often sporadic (increased paternal age)
- Characterized by "beaten metal" pattern
Specific Syndromes
- Apert Syndrome: FGFR2 mutations, autosomal dominant, often sporadic (increased paternal age)
- Characterized by defects of 1st and 2nd branchial arch structures
- Treacher Collins Syndrome: TCOF1 mutations, autosomal dominant, 1 in 50,000 births
- Characterized by defects of 1st and 2nd branchial arch structures
Nasolabial Cyst
- Most common non-odontogenic cyst in the oral cavity
- Affects approximately 1% of the population
- Originates from remnants of the nasopalatine duct
- Theories on origin: fissural cyst vs. misplaced nasolacrimal duct epithelium
Nasopalatine Duct Cyst
- Benign cystic form of teratoma
- Derived from the germ layer
- Can be treated with volumetric reformatting
Sublingual Dermoid Cyst
- Developmental cyst derived from thyroglossal tract remnants
- Can extend to the oral approach
Pilar Cyst
- Keratin-filled cysts arising from hair follicles in the skin
- Also known as trichilemmal cysts
Thyroglossal Duct Cyst
- Developmental cyst derived from thyroglossal tract remnants
- Can be associated with Gardner's syndrome, caused by APC mutations
Branchial Cleft Cyst
- Originates from epithelial remnants of branchial arches (especially the 2nd arch)
- Can be estrogen-dependent in pathogenesis
- Can have an unusually rapid development
Other Cysts
- Sebaceous cysts: normal anatomic variation in the oral mucosa (affects 80% of the population)
- Ascher syndrome: associated with double lip, blepharochalasis, and non-toxic thyroid enlargement
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CHI- fall d1
