DEVELOPMENTAL

ANOMALIES OF SOFT
TISSUES OF ORAL
CAVITY
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
OROFACIAL CLEFTS
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.

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.

Primary palate also
forms by fusion of
medial nasal processes
to form the premaxilla
which includes the four
incisor teeth.


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.

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.

Defective fusion
of medial nasal
process with the
maxillary process
leads to cleft lip
(CL).

Similarly, failure
of fusion of
palatal shelves
leads to cleft
palate (CP).

Frequently, CL & CP occur together.

Approximately 45% cases are CL + CP,
while 30% are isolated CL and 25%
isolated CP.

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.
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.
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.
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.

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.

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.
The minimal
manifestation
of CP is a BIFID /
CLEFT UVULA.

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.

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.

DEVELOPMENTAL
ANOMALIES OF
TONGUE
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.

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
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.

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.

MICROGLOSSIA
Uncommon
developmental
anomaly of
unknown cause ,
characterized by
an abnormally
small tongue.
In extremely rare cases, tongue
may be entirely missing
(Aglossia).

Mild degrees of microglossia may
be difficult to detect.

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.
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.
MACROGLOSSIA
Characterized by enlarged tongue.

Can be caused by both congenital
malformations and acquired diseases.

Most frequent causes are vascular
malformations and muscular
hypertrophy.
1. CONGENITAL & HEREDITARY: -
Vascular malformations
- lymphangioma
- hemangioma
Hemihyperplasia
Cretinism
Down syndrome
Neurofibromatosis
Multiple endocrine neoplasia, type 2B
Beckwith-Weidmann syndrome
2. ACQUIRED: -
Edentulous patients
Amyloidosis
Myxedema
Acromegaly
Angioedema
Carcinoma and other neoplasia


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.
Patients with
hypothyroidism or
syndromes present
with diffuse, smooth,
generalized
enlargement.
Patients with
amyloidosis, neoplasia
and neurofibromatosis
show nodular
enlargement.
Tongue in
lymphangioma
patients appears as
a pebbly surface
with multiple vesicle
like blebs.

Down syndrome
patients show
papillary fissured
surface.
In hemifacial
hyperplasia,
enlargement is
unilateral.

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.
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.
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.
TREATMENT & PROGNOSIS: -
Since most cases are mild, treatment
is often unnecessary.

Frenectomy is recommended if there
are functional or periodontal
problems.
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
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.
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.

Hypothyroidism has
been reported in about
33% of patients.
Diagnosis is
established by thyroid
scan using iodine
isotopes or technetium
99m.
Biopsy is often avoided as the
mass may be highly vascular
and may represent the
patients only functioning
thyroid tissue

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.

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.
CLINICAL FEATURES: -
Age incidence: Prevalence &
severity increases with age.

Sex predilection: slight male
predilection seen.

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.

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.
PMNLs can be noted
migrating into the epithelium,
forming micro abscesses.

Mixed inflammatory infiltrate
present in underlying lamina
propria.

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.
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.
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.
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.

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.
HISTOPATHOLOGICAL
FEATURES: -
Characterized by
marked elongation and
hyperparakeratosis of
the filliform papillae.

Usually, numerous
bacteria can be seen
growing on the surface
of epithelium.
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.

DEVELOPMENTAL
ANOMALIES OF ORAL
MUCOSA
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.
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.
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.


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.
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.
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.

Presents as diffuse,
grayish white,
milky opalescent
appearance of oral
mucosa.
Lesions do not rub
off.
Surface appears
folded, resulting in
whitish streaks.

Can be diagnosed
easily clinically
because the white
appearance
greatly
disappears when
the cheek is
everted and
stretched.
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.
TREATMENT & PROGNOSIS: -
Benign condition, needs no
treatment.

Can be distinguished from other
common white lesions like
leukoplakia, candidiasis by everting
and stretching the mucosa.


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.



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