Developmental oral and maxillofacial conditions
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Questions and Answers

Which gene is commonly associated with defects affecting 1st & 2nd branchial arch structures that leads to Treacher Collin's Syndrome?

  • TP53
  • RAS
  • TCOF1, AD (correct)
  • FGFR2
  • What is the developmental timeline of a cleft lip with or without cleft palate?

  • Unilateral < Bilateral (correct)
  • Unilateral > Bilateral
  • Left > Right
  • Left < Right
  • 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?

    <p>Bifid Mandibular Condyle</p> Signup and view all the answers

    What is the origin of a nasopalatine duct cyst?

    <p>Remnants of nasopalatine duct</p> Signup and view all the answers

    What is the name of the cyst that occurs in the upper lip, lateral to the midline?

    <p>Nasolabial cyst</p> Signup and view all the answers

    Which of the following cysts is associated with misplaced nasolacrimal duct epithelium?

    <p>Nasolabial cyst</p> Signup and view all the answers

    What is the name of the cyst that occurs in the hair follicle?

    <p>Pilar cyst</p> Signup and view all the answers

    Which cyst is the most common non-odontogenic cyst found in the oral cavity?

    <p>Nasopalatine duct cyst</p> Signup and view all the answers

    What is the location of a nasolabial cyst?

    <p>Upper lip, lateral to the midline</p> Signup and view all the answers

    What type of cyst is derived from thyroglossal tract remnants?

    <p>Thyroglossal duct cyst</p> Signup and view all the answers

    What is a characteristic of a dermatoid cyst?

    <p>It has a doughy, rubbery consistency</p> Signup and view all the answers

    Which of the following cysts is derived from the germlayer?

    <p>Benign cystic form of teratoma</p> Signup and view all the answers

    What is a characteristic of a gingival cyst?

    <p>It can occur in both deciduous and permanent dentition</p> Signup and view all the answers

    Which of the following cysts is typically located in the nasolabial fold?

    <p>Nasolabial cyst</p> Signup and view all the answers

    Which of the following cysts is a type of odontogenic cyst?

    <p>Gingival cyst</p> Signup and view all the answers

    What is the typical consistency of a dermatoid cyst?

    <p>Doughy and rubbery</p> Signup and view all the answers

    What is the origin of thyroglossal duct cysts?

    <p>Epithelial remnants of branchial arches (especially the 2nd arch)</p> Signup and view all the answers

    What type of cyst is typically found in the midline of the neck?

    <p>Thyroglossal duct cyst</p> Signup and view all the answers

    What type of cyst is typically found in the scalp?

    <p>Pilar cyst</p> Signup and view all the answers

    What is the typical location of a Pilar cyst?

    <p>Skin of the scalp</p> Signup and view all the answers

    What is the causative factor for Gardner's syndrome?

    <p>Mutations in the APC gene</p> Signup and view all the answers

    What is a feature of a Trichilemmal cyst?

    <p>All of the above</p> Signup and view all the answers

    What is the characteristic feature of sebaceous glands in oral mucosa?

    <p>Normal anatomic variation</p> Signup and view all the answers

    Which syndrome is associated with blepharochalasis and double lip?

    <p>Ascher syndrome</p> Signup and view all the answers

    What is the etiology of Ascher syndrome?

    <p>AD inheritance, with unknown etiology</p> Signup and view all the answers

    Which of the following is NOT a characteristic of Ascher syndrome?

    <p>Cleft lip or palate</p> Signup and view all the answers

    What is the prevalence of sebaceous glands in oral mucosa in the general population?

    <p>80%</p> Signup and view all the answers

    What is the timing of developmental defect in congenital conditions?

    <p>During 2nd-3rd month of gestation</p> Signup and view all the answers

    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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