Upper lip

(1)

Developmental Defects of the Oral and Maxillofacial Region

口腔及顎顏面區域之發育缺陷

江俊斌教授

台北市常德街一號台大醫院牙科部電話：(02)23123456-6855

E-mail: cpchiang@ha.mc.ntu.edu.tw

(2)

學習目標

1. 了解口腔及顎顏面區域之發育缺陷 之種類及內容

2.了解發育性囊腫之種類、臨床、X光 及病理表現

學習資源：Oral and Maxillofacial Pathology, 2nd edition, Neville et al. pages 1-48

(3)

Orofacial Clefts

(4)

Upper lip

1. Midportion –

medial nasal process 2. Lateral portions –

maxillary processes

(5)

Medial nasal process

Lateral nasal process

Maxillary process

(6)

Primary palate

1. From medial nasal processes 2. Forms premaxilla

3. Includes 4 incisors

(7)

Secondary palate

1. Forms 90 % of hard and soft palates

2. From maxillary processes of

the first branchial arches

(8)

Palate formation

1. Palatal shelves – from medial aspects of the maxillary processes (6th week) 2. Tongue drops down

3. Palatal shelves rotate to a horizontal position, fuse one another, and fuse with primary palate and nasal septum (8th to 12th weeks)

(9)

Cleft Lip (CL)

Defective fusion of the

medial nasal process with

the maxillary processes

(10)

(11)

Cleft Palate (CP)

Defective fusion of

the palatal shelves

(12)

CL and CP

1. CL+CP – 45%

2. Isolated CP – 30%

3. Isolated CL – 25%

(13)

Lateral Facial Cleft

1. Lack of fusion of the maxillary and mandibular processes

2. 0.3% of facial clefts 3. From the

commissure to the ear

(14)

Mandibular process

(15)

Oblique Facial Cleft

1. From upper lip to the eye 2. One in 1300 facial clefts 3. Failure of fusion of

lateral nasal process with

maxillary process or caused by amniotic bands

(16)

(17)

Median Clefts of Upper Lip

Failure of fusion of the

medial nasal processes

(18)

Median Maxillary Anterior Alveolar Clefts

A bony defect in the midline of the maxilla

between the central incisors

(19)

CL ^± CP

1. Whites: 1 of every 700-1000 births 2. Asians: 1.5 of every 700-1000 births 3. Blacks: 0.4 per 1000 births

4. Native Americans: 3-6 per 1000 births

(20)

Cleft lip

(21)

Cleft lip and

Cleft palate

(22)

Cleft palate

(23)

Cleft

palate

(24)

Cleft lower lip and lower jaw defect

(25)

Isolated CP

Whites and blacks:

0.4 per 1000 births

(26)

Sex predilection

1. CL ^± CP: male predilection

2. Isolated CP: female predilection

(27)

Male to female ratio for CL ± CP

1. Isolated CL: 1.5:1

2. CL + CP: 2:1

(28)

Male to female ratio for CP

1. Clefts of both hard and soft palates:

1:2

2. Clefts of soft palate only:

1:1

(29)

Cleft Lip

1. Unilateral: 80%

(70% on the left side)

2. Bilateral: 20%

(30)

Cleft or bifid uvula

1. The most minimal manifestation of cleft palate

2. Whites: 1 in 80 persons 3. Asians: 1 in 10 persons

4. Native Americans: 1 in 10 persons 5. Blacks: 1 in 250 persons

(31)

Bifid uvula

(32)

Submucous Palatal Cleft

1. Surface mucosa intact 2. A defect in underlying

musculature of the soft palate

(33)

Submucous Palatal Cleft

3. A notch in the posterior margin of the hard palate

4. A bluish midline discoloration occasionally

5. An associated cleft uvula

(34)

Pierre Robin sequence

Pierre Robin anomalad 1. Cleft palate

2. Mandibular micrognathia

3. Glossoptosis

(35)

Pierre Robin sequence

1. Constraint of mandibular growth in utero

2. Failure of the tongue to descend 3. Failure of fusion of the

palatal shelves

(36)

Pierre Robin sequence

Micrognathic mandible

+

Cleft palate

(37)

Retruded mandible

Results in:

1. Posterior displacement of the tongue

2. Lack of support of the tongue musculature

3. Airway obstruction

(38)

Cleft palate

Results in:

1. Poor appearance, psychosocial difficulties

2. Feeding and speech difficulties 3. Malocclusion

4. Missing teeth or supernumerary teeth

(39)

Timing of surgery

1. CL – first few months of life

2. CP – 18 months of age

(40)

Genetic counseling

Nonsyndromic cases

The risk for cleft development in a

sibling or offspring of an affected person 1. If no other first-degree relatives are

also affected – 3-5%

2. If other first-degree relatives are also affected – 10-20%

(41)

Genetic counseling

Syndromic cases

Higher risk, depending on the

possible inheritance pattern

(42)

Commissural lip pits

1. Small mucosal invaginations at the mouth corners

2. Failure of fusion of the embryonal maxillary and mandibular processes 3. 0.2-0.7% in children

12-20% in adults (develop later in life)

(43)

Commissural lip pits

4. Males＞females

5. Unilateral or bilateral 6. Blind fistula (1-4 mm)

7. Saliva may be expressed from the pit.

8. Higher incidence of preauricular pits

(44)

Commissural pits

(45)

Paramedian lower lip pits

1. Persistence of the lateral sulci

on the embryonic mandibular arch 2. Bilateral and symmetric fistulas

3. Blind sinuses up to 1.5 cm

(46)

Paramedian lower lip pits

4. May express salivary secretions 5. Autosomal dominant trait in

combination with CL and/or CP (van der Woude syndrome)

6. May pass the van der Woude syndrome on to the offspring

(47)

Paramedian

lip pits

(48)

Double lip

1. Redundant fold of tissue on the mucosal side of the lip

2. Congenital – persistence of the sulcus between the pars glabrosa and pars villosa of the lip

(49)

Double lip

3. Acquired – a component of Ascher syndrome or results from trauma or sucking on the lip

4. More on the upper lip

(50)

Double lip

(51)

Ascher syndrome

1. Double lip

2. Blepharochalasis (瞼皮鬆垂)

3. Nontoxic thyroid enlargement

(52)

Ascher syndrome Edema of upper eyelids Blepharochalasis

(53)

Fordyce granules

1. “Ectopic” sebaceous glands in the oral mucosa

2. ＞80% in the population 3. Yellow papules

4. On the buccal mucosa and vermilion of the upper lip

5. More common in adults than in children

(54)

Fordyce’s

granules

(55)

Fordyce’s granules

(56)

Fordyce’s granules

(57)

Fordyce’s granules

(58)

Fordyce’s granules

(59)

Leukoedema

1. More common in blacks than in whites

2. 90% in black adults

50% in black children 3. 10 – 90% in whites

4. More common in smokers

(60)

Leukoedema

1. Diffuse, milky–white, opalescent appearance of the mucosa

2. Bilateral on the buccal mucosa 3. Diminishes or disappears when

the cheek is stretched

(61)

Leukoedema

(62)

White

spongy nevus

(63)

(64)

Leukoedema

Histopathologic features 1. Parakeratinization

2. Intracellular edema of

the spinous layer

(65)

Microglossia

1. Abnormally small tongue 2. Associated with

hypoplasia of the mandible

(66)

Macroglossia

1. Abnormally large tongue

2. Caused by vascular malformation and muscular hypertrophy

(67)

Causes of macroglossia

Congenital and hereditary 1. Vascular malformations

Lymphangioma Hemangioma

2. Hemihypertrophy

(68)

Macroglossia

Hemangioma

(69)

Hemihypertrophy

(70)

Causes of macroglossia

3. Cretinism

(glycosaminoglycan accumulation) 4. Beckwith-Wiedemann syndrome

(71)

Causes of macroglossia

5. Down syndrome

6. Mucopolysaccharidoses 7. Neurofibromatosis

8. Multiple endocrine neoplasia,

typeⅢ

(72)

Causes of macroglossia

Acquired

1. Edentulous patients 2. Amyloidosis

3. Myxedema 4. Acromegaly 5. Angioedema

6. Carcinoma and other tumors

(73)

Macroglossia

Acromegaly

(74)

Macroglossia

Amyloidosis

(75)

Macroglossia

Hemodialysis- associated

amyloidosis

(accumulation of

β-2 microglobulin)

(76)

Beckwith-Wiedemann syndrome

1. Macroglossia

2. Omphalocele (protrusion of

part of the intestine through

a defect in the abdominal wall

at the umbilicus）

(77)

Beckwith–Wiedemann syndrome

3. Visceromegaly 4. Gigantism

5. Neonatal hypoglycemia

(78)

Down syndrome

A papillary, fissured tongue

(79)

Ankyloglossia

Tongue tie

1. A short, thick lingual frenum 2. 2–3 of every 10,000 people 3. May have speech defects.

4. Surgery may be postponed until age 4 or 5

(80)

Ankyloglossia (Tongue tie)

(81)

Tongue tie, bifid tongue

(82)

Lingual thyroid

1. Ectopic thyroid between

foramen cecum and the epiglottis

2. Four times more frequent in females 3. In 70% of cases, this ectopic gland

is the patient’s only thyroid tissue.

(83)

Lingual thyroid

4. Symptoms: dysphagia, dysphonia and dyspnea

5. Hypothyroidism: 15–33% of patients 6. Diagnosis: thyroid scan using

iodine isotopes

7. Carcinomas arising in lingual thyroids – 1%

(84)

Lingual

thyroid

(85)

Lingual thyroid

Thyroid scan

: Uptake in the

tongue mass

(86)

Fissured tongue

(Scrotal tongue)

1. Heredity

2. Aging or local

environmental factors

3. Multiple grooves on dorsal tongue, ranging from 2 to 6 mm in depth

(87)

Fissured tongue (Scrotal tongue)

4. 2–5% in the population

5. The prevalence and severity increase with age.

6. A male predilection

7. Associated with geographic tongue

(88)

Fissured tongue

(89)

Geographic

tongue

(90)

Melkersson-Rosenthal syndrome

1. Fissured tongue 2. Facial paralysis

3. Cheilitis granulomatosa

(91)

Melkersson

Rosenthal

syndrome

(92)

Cheilitis

granulomatosa

(93)

Hairy tongue

Associated factors

1. Heavy smoking habit 2. Antibiotic therapy

3. Poor oral hygiene

4. General debilitation

(94)

Hairy tongue

5. Radiation therapy

6. Use of oxidizing mouth washes or antacids

7. Overgrowth of fungal or

bacterial organism

(95)

Hairy tongue

1. Marked elongation and hyperkeratosis of the filiform papillae

2. In 0.5% of adults

(96)

Hairy tongue

3. Growth of pigment-producing

bacteria or staining from tobacco and food

4. Treated by periodic scraping or brushing with a toothbrush

(97)

Hairy

tongue

(98)

Sublingual Varicosities (Varices)

1. Dilated and tortuous veins on the ventral tongue

2. Occur in 2/3 of people

older than 60 years of age

(99)

Sublingual Varicosities (Varices)

3. Not associated with hypertension or other

cardiopulmonary diseases 4. May become thrombosed

or contain phlebolith

(100)

Sublingual

varicosities

(101)

Sublingual varicosities

(102)

Lateral soft palate fistulas

1. Congenital, a defect in the development of the

second pharyngeal pouch

2. The result of infection or surgery of the tonsillar region

3. Common on anterior tonsillar pillar

(103)

Lateral soft

palate fistula

(104)

Coronoid hyperplasia

1. Unilateral: osteoma,

osteochondroma or hyperplasia 2. Bilateral: common in males,

resulting in limitation of

mandibular opening

(105)

Condylar hyperplasia

1. Causes facial asymmetry,

prognathism, crossbite, open bite, tilting of the occlusal plane

2. Treated by unilateral condylectomy

(106)

Condylar hyperplasia

(107)

Normal condyles

(108)

Congenital condylar hypoplasia

Associated with mandibulofacial dysostosis, oculoauriculovertebral syndrome (Goldenhar syndrome), hemifacial microsomia

(109)

Acquired condylar hypoplasia

1. Trauma to the condylar region during infancy or children

2. Infections, radiation therapy, rheumatoid or degenerative arthritis

(110)

Condylar hypoplasia

1. Bilateral – produces a small mandible with a classⅡ malocclusion

2. Unilateral – results in depression of the face on the affected side

(111)

TMJ ankylosis

(112)

TMJ ankylosis

Resulting in condylar

hypoplasia, trismus

(113)

Bifid condyle

1. A double–headed

mandibular condyle

2. Anteroposterior bifid condyles

– traumatic origin (fracture)

(114)

Bifid condyle

3. Mediolateral bifid condyles – due to abnormal muscle attachment,

teratogenic agents, persistence of a fibrous septum within the

condylar cartilage

4. No treatment is needed.

(115)

Bifid

condyle

(116)

Exostoses

1. A row of bony hard nodules along the facial aspect of alveolar ridge 2. Males = females

3. In 1 of every 1000 adults

4. A mass of dense, lamellar bone with fibrofatty marrow

(117)

Exostosis

(118)

Torus palatinus

1. Pathogenesis: genetic or environmental

2. A bony mass along the

midline of the hard palate

3. Flat, spindle, nodular, lobular

torus

(119)

Torus palatinus

4. 20–35% in whites and blacks in USA

5. A higher prevalence in Asians and Eskimos

6. Females : males = 2 : 1

(120)

Torus

palatinus

(121)

Torus palatinus

(122)

Torus mandibularis

1. Pathogenesis: genetic and environmental

2. A bony mass along the

lingual aspect of the mandible in premolar region

3. Bilateral – ＞90﹪

(123)

Torus mandibularis

4. Not as common as the torus palatinus 5. More common in Asians and Inuits 6. Prevalence in USA: 7–10%

7. A slight male predilection

(124)

Torus mandibularis

(125)

Torus

mandibularis

(126)

Eagle syndrome

（Stylohyoid syndrome）

1. Due to elongation of stylohyoid process or mineralization of the stylohyoid ligament

2. Caused by impingement or compression of the adjacent sympathetic nerves or internal or external carotid arteries

(127)

Eagle syndrome

3. Vague facial pain, while swallowing, turning the head, or opening the

mouth

4. Other symptoms including dysphagia, dysphonia, otalgia, headache,

dizziness, and transient syncope

(128)

Eagle syndrome

5. Treated by local injection of corticosteroids or by partial

surgical excision of the elongated styloid process or mineralized

stylohyoid ligament

(129)

Eagle

syndrome

Stylohyoid

syndrome

(130)

Stafne defect (Stafne bone cyst)

(Lingual mandibular salivary gland depression)

1. Focal concavity of the cortical bone on the lingual surface of the mandible 2. Near the mandibular angle or

sometimes at the anterior mandible

3. A radiolucency below the mandibular canal in the posterior mandible

(131)

Stafne defect

4. Defects containing salivary gland tissue, muscle, fibrous tissue, blood vessels, fat or lymphoid tissue

5. Posterior Stafne defects – in 0.3% of panoramic radiographs

6. A male predilection (80–90% of all cases)

(132)

Stafne defect

7. Occurs in middle-aged and older adults

8. CT scans show a well-defined concavity on the

lingual surface of the mandible 9. Sialograms demonstrate

salivary gland tissue in the defect.

(133)

Stafne

defect

(134)

Stafne

defect

(135)

Stafne defect (Lingual mandibular salivary gland depression)

(136)

Stafne defect

Lingual mandibular salivary gland

depression

(137)

Stafne

bone cyst

(138)

Simple bone cyst

(139)

Simple

bone cyst

(140)

Simple

bone cyst

(141)

Hemihyperplasia (hemihypertrophy)

1. Hemifacial hyperplasia, unilateral macroglossia

2. An increase in thickness of the epithelium with hyperplasia of the underlying connective tissues or muscles

(142)

Hemihyperplasia

3. 20% of patients are mentally retarded.

4. An increased incidence of abdominal tumors – Wilms tumor,

adrenal cortical carcinoma, and hepatoblastoma

(143)

Hemihyperplasia Right side

hemihyperplasia

(144)

Right side tongue hemihyperplasia

(145)

Progressive hemifacial atrophy

1. Atrophy of the skin and

subcutaneous structures in a localize area of the face

2. Affects the dermatome of one or more branches of the

trigeminal nerve

(146)

Progressive hemifacial atrophy

3. Females > males

4. Enophthalmos due to loss of periorbital fat

5. Local alopecia, unilateral atrophy of upper lip or tongue, unilateral mandibular hypoplasia

(147)

Hemifacial

atrophy, right

(148)

Hemifacial atrophy

(149)

Crouzon syndrome

(Craniofacial dysostosis)

1. Characterized by craniosynostosis, or premature closing of the

cranial sutures

2. Autosomal dominant trait

3. Incidence: 1 of every 25,000 births

(150)

Crouzon syndrome

4. Brachycephaly (short head)

Scaphocephaly (boat-shaped head) Trigonocephaly (triangle-shaped

head)

(151)

Crouzon syndrome

5. Shallow orbits resulting in ocular proptosis

6. Visual impairment, hearing deficit, headache

(increased intracranial pressure)

7. Underdeveloped maxilla resulting in mid-face hypoplasia

(152)

Crouzon syndrome

mid-face hypoplasia + ocular proptosis

(眼球前凸)

(153)

Apert syndrome

(acrocephalosyndactyly)

1. Characterized by craniosynostosis 2. Incidence: 1 of every 100,000 to

160,000 births

3. Autosomal dominant trait

(154)

Apert syndrome

4. Acrobrachycephaly (tower skull) 5. Ocular proptosis, hypertelorism,

visual loss

6. Retruded mid-face,

mandibular prognathism

(155)

Apert syndrome

Tower skull +

mid-face

hypoplasia

(156)

Apert

syndrome

Mid-face

hypoplasia +

Ocular

proptosis

(157)

Apert syndrome

Mid-face depression

(158)

Apert syndrome

Ocular proptosis

(159)

Hypertelorism

(160)

Apert syndrome

7. Open-mouth appearance

8. Syndactyly, synonychia

9. Mental retardation

(161)

Apert

syndrome

Syndactyly

(162)

Apert syndrome

10. Trapezoid-shaped lips

11. Cleft of the soft palate or

bifid uvula – 3/4 patients

(163)

Apert syndrome

Trapezoid lips

(164)

Apert syndrome

12. V-shaped arch,

class III malocclusion,

swelling of lateral hard palate

(accumulation of glycosaminoglycans, especially hyaluronic acid)

(165)

Apert syndrome

Swelling of lateral

hard palate

(166)

Apert syndrome

Visual loss

1. Chronic exposure of unprotected eyes

2. Increased intracranial pressure

3. Compression of the optic nerves

(167)

Mandibulofacial dysostosis

(Treacher Collins syndrome)

1. Defects of structures derived from the first and second

branchial arches

2. Autosomal dominant trait

(168)

Mandibulofacial dysostosis

3. Occurs in 1 of every 10,000 births 4. 60% cases represent

new mutations.

5. Associated with

increased paternal age

(169)

Mandibulofacial dysostosis

Clinical and radiographic features:

1. Hypoplastic zygoma, narrow face with depressed cheeks

2. Downward-slanting palpebral fissures 3. 75% patients – a coloboma, or notch,

occurs on the outer portion of the lower eyelid

(170)

Mandibulofacial dysostosis

4. 50% patient – no eyelashes medial to the coloboma

5. Deformed or misplaced pinnae and extra ear tags

6. Ossicle defects or absence of the external auditory canal

(171)

Mandibulofacial dysostosis

Hypoplastic mandible

Downward slanting palpebral fissures

Coloboma

Ear deformity

(172)

Mandibulofacial dysostosis

7. Underdeveloped mandible 8. Hypoplasia of the condylar

and coronoid processes

9. 1/3 cases – cleft palate

(173)

Mandibulofacial dysostosis

10. Hypoplastic or absent parotid gland

11. Hypoplasia of nasopharynx,

oropharynx, and hypopharynx

(174)

Fissural cysts

Arise from epithelium entrapped

along embryonal lines of fusion

(175)

Palatal cysts of the newborn

1. Epstein pearls

2. Bohn’s nodules

(176)

Epstein’s pearls

1. Occur along the

median palatal raphe 2. Arise from epithelium

entrapped along the

line of fusion

(177)

Epstein’s

pearls

(178)

Bohn’s nodules

1. Scattered over hard palate, often near the soft palate

junction

2. Derived from the

minor salivary glands

(179)

Palatal cysts of the newborn

1. Occur in 65-85% of neonates 2. 1-3 mm white or yellowish-

white papules

3. Keratin-filled cysts lined by

stratified squamous epithelium

(180)

Nasolabial cysts

1. Arising from epithelial

remnants entrapped along the line of fusion of the

maxillary, medial nasal, and

lateral nasal processes

(181)

(182)

Nasolabial cysts

2. Developing from

misplaced epithelium of

the nasolacrimal duct

(183)

Nasolabial cysts

Clinical features:

1. A swelling of the upper lip lateral to the midline

2. A peak prevalence in the

fourth and fifth decades of

the life

(184)

Nasolabial cysts

3. Females : males = 3 : 1 4. Soft tissue cyst –

no radiographic changes

(185)

Nasolabial cyst

Histopathologic features:

1. A cyst lined by pseudostratified ciliated columnar epithelium

2. Areas of cuboidal epithelium and squamous metaplasia are not

unusual.

(186)

Nasolabial

cyst

(187)

Nasolabial

cyst

(188)

Globulomaxillary cyst

1. Arising from epithelium entrapped during fusion of the globular portion of the medial nasal process with the maxillary process

2. Current theory – odontogenic origin

(189)

Globulomaxillary cyst

1. Between the maxillary lateral incisor and cuspid teeth

2. An inverted pear-shaped

radiolucency

(190)

Globulomaxillary cyst

Lined by inflamed stratified squamous epithelium or by pseudostratified ciliated

columnar epithelium

(191)

Globulo- maxillary cyst

(192)

Globulomaxillary cyst

(193)

Globulo

-maxillary

cyst

(194)

Nasopalatine duct cyst

1. The most common non-odontogenic cyst of the oral cavity

2. Occurs in about 1% of the population 3. Arises from remnants of the

nasopalatine duct

(195)

Nasopalatine duct cyst

Clinical features:

1. Common in the fourth to sixth decades of life

2. A male predilection

3. Swelling of the anterior palate, drainage, and pain

(196)

Nasopalatine duct cyst

4. A well-defined round radiolucency in or near the midline of the anterior

maxilla between and apical to the central incisor teeth

5. >6 mm in diameter (Incisive foramen is often <6 mm in diameter.)

(197)

Cysts of the incisive papilla

A cyst in the soft tissue

of the incisive papilla

(198)

Nasopalatine duct cyst

Histopathologic features:

1. Lining epithelium –

stratified squamous epithelium,

pseudostratified columnar epithelium, simple columnar epithelium,

simple cuboidal epithelium

(199)

Nasopalatine duct cyst

2. Cyst wall – contains nerves,

arteries, veins, mucous glands,

hyaline cartilage

(200)