Transcript of Congenital malformations of the maxillofacial area in children. Statistics, etiology, pathogenesis,...
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- Congenital malformations of the maxillofacial area in children.
Statistics, etiology, pathogenesis, classification, clinical
picture. Modern principles of treatment and rehabilitation of such
children.
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- OVERVIEW I. OROFACIAL CLEFTS: - Cleft Lip & Cleft palate
II. ANOMALIES OF TONGUE: - Microglossia & Macroglossia -
Ankyloglossia - Hairy tongue - Fissured tongue - Lingual thyroid
III. ANOMALIES OF ORAL MUCOSA: - Fordyce granules - Leukoedema
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- OROFACIAL CLEFTS
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- Development of face and oral cavity involves the development of
various facial processes that fuse with each other. Any disturbance
in growth of these processes can result in formation of orofacial
clefts. Thus it is essential that facial development be reviewed in
brief.
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- Central face begins to develop by 4 th week, when olfactory
placodes appear on both side of frontonasal process. Gradually both
placodes develop to form medial and lateral nasal processes. Upper
lip is formed by 6 th week by fusion of two medial nasal processes
in midline and the maxillary process of the 1 st branchial
arch.
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- Primary palate also forms by fusion of medial nasal processes
to form the premaxilla which includes the four incisor teeth.
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- Secondary palate is formed from the maxillary processes of the
1 st branchial arch. By the 6 th week bilateral projections emerge
from medial aspect of maxillary processes to form palatal
shelves.
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- Initially these shelves are vertically oriented on either side
of developing tongue. As mandible grows, tongue drops down allowing
palatal shelves to rotate horizontally and fuse in midline by 8 th
week. Palatal shelves also fuse with the primary palate anteriorly
and nasal septum superiorly.
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- Defective fusion of medial nasal process with the maxillary
process leads to cleft lip (CL).
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- Similarly, failure of fusion of palatal shelves leads to cleft
palate (CP).
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- Frequently, CL & CP occur together. Approximately 45% cases
are CL + CP, while 30% are isolated CL and 25% isolated CP.
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- Both, isolated CL and CL associated with CP (CL+ CP) are
thought to be etiologically related conditions and are considered
as a group. Isolated CP appears to represent a separate
entity.
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- Other rare facial clefts like lateral facial cleft occurs as a
result of failure of fusion of maxillary and mandibular processes
leading to a cleft from corner of mouth toward ear. Oblique facial
cleft extends from upper lip towards the eye and is almost always
associated with CP. Caused by failure of fusion between maxillary
process with lateral nasal process. Midline cleft of upper lip is
extremely rare and represents failure of fusion of medial nasal
processes in the midline.
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- ETIOLOGY Cause is still being debated. Important to distinguish
between isolated clefts and clefts associated with developmental
syndromes. More than 250 syndromes are associated with orofacial
clefts and account for 3% - 8% of orofacial clefts, e.g. Pierre
Robin syndrome, Treacher-Collins syndrome etc. Environmental
factors like alcohol consumption, viruses etc also may combine with
developmental factors.
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- CLINICAL FEATURES RACIAL PREVALENCE: - Clefting is one of the
most common congenital defects in humans. Prevalence varies between
races, with whites having prevalence of 1 in 1000 births, while it
is 1.5 times higher in Asians and least amongst blacks (0.4 in 1000
births). Isolated CP is less common than CL + / - CP.
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- SEX PREDILECTION: - CL + / - CP is more common in males. More
severe the defect, greater is the male predilection. Male to female
ratio for isolated CL is 1.5 : 1. M:F ratio for CL+CP is 2 : 1. In
contrast, isolated CP is commoner in females with the M:F ratio
being 1 : 2.
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- SIGNS & SYMPTOMS: - About 80% cases of CL are unilateral,
with 70% of unilateral cases occurring on left side. A complete CL
extends till the nose A CP shows considerable variation in
severity, with the defect involving both hard and soft palate or
soft palate alone.
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- The minimal manifestation of CP is a BIFID / CLEFT UVULA.
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- Cleft patients suffer from many direct as well as well as
indirect problems. The most obvious problem is clinical appearance
leading to psychosocial problems. Feeding and speech difficulties
are common especially with CP. CP also causes collapsing of
maxillary arch, missing of teeth, supernumerary teeth, leading to
malocclusion.
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- TREATMENT & PROGNOSIS Treatment is multidisciplinary,
involving Pediatrician, Otolaryngologist, Oral & maxillofacial
surgeon, Pedodontist, Plastic surgeon, speech therapist and genetic
counselor. Surgical repair involves multiple primary and secondary
procedures throughout childhood, depending on severity of defect
and philosophy of the team.
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- DEVELOPMENTAL ANOMALIES OF TONGUE
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- OVERVIEW OF TONGUE DEVELOPMENT The medial most parts of the
mandibular arches proliferate to form two LINGUAL SWELLINGS. They
are partially separated from each other by another swelling that
appears in the midline, known as TUBERCULUM IMPAR.
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- Immediately behind the tuberculum impar, the epithelium
proliferates to form down growth from which the thyroid gland
develops. The site of this down growth is subsequently marked by
the depression, called as FORAMEN CAECUM
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- Tongue is divided into two parts: 1) Anterior 2/3 rd of the
tongue. 2) Posterior 1/3 rd of the tongue. Anterior 2/3 rd of
tongue is formed by fusion of:- a) the tuberculum impar b) the two
lingual swellings Anterior 2/3 rd of tongue derived from the
mandibular arch.
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- Posterior one third of the tongue is derived from the cranial
part of hypobranchial eminence (copula) In this situation, the
second arch mesoderm gets buried below the surface. The third arch
mesoderm grows over it to fuse with the mesoderm of the first arch.
Posterior most part of tongue is derived from 4 TH arch.
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- MICROGLOSSIA Uncommon developmental anomaly of unknown cause,
characterized by an abnormally small tongue.
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- In extremely rare cases, tongue may be entirely missing
(Aglossia). Mild degrees of microglossia may be difficult to
detect.
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- Usually associated with syndromes like oromandibular limb
hypogenesis syndrome. This syndrome is characterized by
hypodactylia (absence of digits) and hypomelia (hypoplasia of part
or all of a limb). Microglossia is also associated frequently with
hypoplasia of mandible and lower incisors may be missing.
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- TREATMENT & PROGNOSIS: - Depends on nature and severity of
condition. Surgery and orthodontics may improve oral function.
Speech development is quite good but depends on tongue size.
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- MACROGLOSSIA Characterized by enlarged tongue. Can be caused by
both congenital malformations and acquired diseases. Most frequent
causes are vascular malformations and muscular hypertrophy.
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- 1. CONGENITAL & HEREDITARY: - Vascular malformations -
lymphangioma - hemangioma Hemihyperplasia Cretinism Down syndrome
Neurofibromatosis Multiple endocrine neoplasia, type 2B
Beckwith-Weidmann syndrome
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- 2. ACQUIRED: - Edentulous patients Amyloidosis Myxedema
Acromegaly Angioedema Carcinoma and other neoplasia
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- CLINICAL FEATURES ; - Common in children. Can be mild to severe
in degree. Manifested in children as noisy breathing, drooling,
difficulty in eating and lisping speech. Tongue pressure against
mandible can cause scalloped border of tongue, open bite and
mandibular prognathism.
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- Patients with hypothyroidism or syndromes present with diffuse,
smooth, generalized enlargement. Patients with amyloidosis,
neoplasia and neurofibromatosis show nodular enlargement.
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- Tongue in lymphangioma patients appears as a pebbly surface
with multiple vesicle like blebs.
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- Down syndrome patients show papillary fissured surface. In
hemifacial hyperplasia, enlargement is unilateral.
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- TREATMENT & PROGNOSIS: - Depends on cause and severity of
condition. Mild cases may not require any treatment. Speech therapy
is helpful if speech is affected. Reduction glossectomy may be
needed in larger enlargement.
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- ANKYLOGLOSSIA (TONGUE TIE) Characterized by a short, thick
lingual frenum, resulting in limitation of tongue movement. Male to
female ratio is 4 : 1. Reported to occur in 2-3 persons out of
every 10,000 people.
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- CLINICAL FEATURES: - Ranges in severity from mild to severe,
where the frenum is actually fused to floor of mouth due to absent
frenum. Can result in speech defects. Usually however, the
shortened frenum results only in minor difficulties as many people
can compensate for limitation in tongue movement.
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- TREATMENT & PROGNOSIS: - Since most cases are mild,
treatment is often unnecessary. Frenectomy is recommended if there
are functional or periodontal problems.
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- LINGUAL THYROID Thyroid gland begins as an epithelial
proliferation behind the tuberculum impar in the floor of
pharyngeal gut by the 3 rd 4 th week of IUL. By 7 th week, the
gland descends into the neck to its final resting place. The site
where the embryonic bud invaginates, later becomes the foramen
cecum at the junction of anterior 2/3 rd & posterior 1/3rd
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- CLINICAL FEATURES: - Male to female ratio is about 1 : 4.
Symptoms develop by puberty, pregnancy or menopause. In 70% of
cases, this piece of tissue is the only thyroid tissue in the
patient.
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- Lingual thyroids may range from small, asymptomatic, nodular
lesions to large masses that block airway. Common symptoms are
dyspnea, dysphagia and dysphonia. No distinct features are present
to differentiate it from other masses developing on the
tongue.
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- Hypothyroidism has been reported in about 33% of patients.
Diagnosis is established by thyroid scan using iodine isotopes or
technetium 99m.
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- Biopsy is often avoided as the mass may be highly vascular and
may represent the patients only functioning thyroid tissue
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- TREATMENT & PROGNOSIS: - No treatment required for small,
asymptomatic masses. In larger lesions, suppressive therapy with
supplemental thyroid hormone can often reduce the size of the
mass.
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- FISSURED TONGUE Relatively common condition. Numerous grooves
or fissures are present on dorsal surface of tongue. Cause
uncertain, but heredity plays an important role. Aging or local
environmental factors may also contribute to its development.
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- CLINICAL FEATURES: - Age incidence: Prevalence & severity
increases with age. Sex predilection: slight male predilection
seen.
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- Signs & symptoms: Multiple grooves / furrows on dorsal
surface ranging from 2 6 mm in depth. In severe cases, tongue
appears divided into multiple islands by the deep fissures.
Condition usually asymptomatic. Strong association with geographic
tongue.
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- HISTOPATHOLOGIC AL FEATURES: - Hyperplasia of rete ridges and
loss of keratin hairs from surface of filliform papillae. Papillae
vary in size and are often separated by deep grooves.
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- PMNLs can be noted migrating into the epithelium, forming micro
abscesses. Mixed inflammatory infiltrate present in underlying
lamina propria.
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- TREATMENT & PROGNOSIS: - Being a benign condition, no
specific treatment is required. Patient should be encouraged to
brush his tongue as food entrapped in the deep fissures of tongue
may act as a source of irritation.
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- HAIRY TONGUE Characterized by marked accumulation of keratin on
filliform papillae, resulting in a hairy appearance of dorsal
surface of tongue. Represents probably an increase in keratin
production or a decrease in normal keratin desquamation. Found in
approximately 0.5% of adults.
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- ETIOLOGY: - Cause is uncertain, but many of affected patients
are heavy smokers. Other possible associated factors include: -
Antibiotic therapy - Poor oral hygiene - General debilitation -
Radiation therapy - Use of oxidizing mouthwash / antacids -
Overgrowth of fungal / bacterial organisms.
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- CLINICAL FEATURES: Commonly affects midline, just anterior to
circumvallate papillae. Elongated papillae are brown, yellow or
black as a result of growth of pigment producing bacteria or
tobacco staining.
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- Condition is usually asymptomatic, although in severe cases,
patients may complain of gagging sensation. Because of similarity
in names, care must be taken to differentiate this condition from
hairy leukoplakia (HL). HL occurs on lateral borders of tongue, is
caused by Epstein-Barr virus and is usually associated with HIV
infection or other immunosuppressive conditions.
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- HISTOPATHOLOGICAL FEATURES: - Characterized by marked
elongation and hyperparakeratosis of the filliform papillae.
Usually, numerous bacteria can be seen growing on the surface of
epithelium.
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- TREATMENT & PROGNOSIS: - Benign condition with no serious
sequelae. Esthetic concerns and associated bad breath problems
should be taken care of. Desquamation can be promoted by periodic
scraping with a toothbrush / tongue scraper.
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- DEVELOPMENTAL ANOMALIES OF ORAL MUCOSA
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- FORDYYCE GRANULES Considered ectopic collection of sebaceous
glands occurring on the oral mucosa. However since 80% of the
population shows their presence, their presence in oral mucosa must
be considered a normal anatomic variation.
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- Present as multiple yellow or yellowish white papules. Occur
most commonly on buccal mucosa and vermilion border of upper lip.
More common in adults than children. Mostly asymptomatic lesions.
Some patients may feel some roughness of the mucosa.
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- HISTOLOGICAL FEATURES: Appear similar to normal sebaceous
glands except for absence of associated hair follicles. Acinar
lobules located immediately beneath epithelial surface often
communicating with the surface via a central duct. Sebaceous cells
within acini are polygonal, with central nuclei and abundant foamy
cytoplasm.
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- TREATMENT & PROGNOSIS: - As they are asymptomatic and
represent a normal anatomic variation, no treatment is indicated.
Biopsy also is not necessary as clinical appearance is
characteristic. Occasionally, Fordyce granules may become
hyperplastic or form keratin filled pseudo cysts.
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- LEUKOEDEMA Common condition of unknown cause. Occurs more in
blacks than whites. Because it is so common, it can be considered a
normal anatomic variation rather than a disease. Some studies
indicate that it may be more common in heavy smokers.
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- CLINICAL FEATURES: - Age incidence: Children Sex predilection:
Nil Racial predilection: More in blacks Site of occurrence:
Primarily bilaterally on buccal mucosa. May occur on floor of mouth
also.
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- Presents as diffuse, grayish white, milky opalescent appearance
of oral mucosa. Lesions do not rub off. Surface appears folded,
resulting in whitish streaks.
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- Can be diagnosed easily clinically because the white appearance
greatly disappears when the cheek is everted and stretched.
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- HISTOPATHOLOGICAL FEATURES: - Epithelium appears thickened with
pronounced intracellular edema of spinous layer. These cells appear
vacuolated, having pyknotic nuclei. Epithelial surface is usually
parakeratinized with broad and elongated rete ridges.
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- TREATMENT & PROGNOSIS: - Benign condition, needs no
treatment. Can be distinguished from other common white lesions
like leukoplakia, candidiasis by everting and stretching the
mucosa.
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- BIBLIOGRAPHY 1. Soames JV, Southam JC. Oral pathology/. 3 rd
ed. Oxford 2002. 2. Shafer WG, Hine MK, Levy BM. A text book of
oral pathology. 6 th ed. W.B. Saunders Company. Phil, London,
Toronto, 2005. 3. Neville BW, Damm DD, Allen CM, Bouquot JE. Oral
and maxillofacial pathology. 2 nd ed. WB Saunders Company. Phil,
London, Toronto, 2007.
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- ACKNOWLEDGEMENT All pictures in this presentation are courtesy
of authors mentioned in the bibliography and the following authors
also: 1. Sadler, Langmans, Medical Embryology, Ed. 6. 2. James e
Anderson, Grants Atlas of Anatomy. Williams & Wilkins
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