3. SOFT TISSUE ABNORMALITIES
Congenital Lip Pit
Congenital invaginations of
lower lip
Dr. Ali Tahir
Results from persistance of
lateral sulci on emb.
mandibular arch
May involve the paramedial
portion of vermilian of the
lower or upper lip
(paramedial lip pit)
Autosomal dominant
May be associated with a
cleft lip or cleft palate
(vanderwoude syndrome)
Unilateral or bilateral
4. COMMISSURAL LIP PITS
Small mucosal
invaginations at
corners of the mouth
Dr. Ali Tahir
Autosomal dominant
More common in males
1-4mm deep
Result from failure of
fusion of embryonic
maxillary & mandibular
processes
Develop later in life?
May express saliva
5. DOUBLE LIP
Anomaly characterized by
horizontal fold of mucosal
Dr. Ali Tahir
tissue that is usually
located on inner aspect of
upper lip
May be congenital or
acquired
Autosomal dominant
May be associated with
Ascher Syndrome
Blepharochalasis
Non-toxic thyroid
enlargment
7. SOFT TISSUE ABNORMALITIES
Frenal Tag
Redundant piece of mucosal tissue that projects
Dr. Ali Tahir
from the maxillary labial frenum
Autosomal dominant
Mistaken for fibrous hyperplasia, histology shows
normal mucosa
8. MICROGLOSSIA
Uncommon
developmental
condition of unknown
Dr. Ali Tahir
cause
Tongue is smaller than
normal
Entire tongue may be
missing (aglossia)
Mostly occurs in
association with
oromandibular-limb
hypogenesis syndrome
9. ANKYLOGLOSSIA
Developmental anomaly
Lack of normal tongue
mobility because of
Dr. Ali Tahir
abnormal fibrous tissue
attachment between its
ventral surface and floor of
mouth (tongue tie)
4 times more common in
boys
Can range in severity
High muco-gingival
attachment of frenum
results in periodontal
problems
11. MACROGLOSSIA
Most commonly caused by vascular malformations
& muscle hypertrophy
Dr. Ali Tahir
Manifested by
Noisy breathing
Drooling saliva
Difficulty in eating
Crenated lateral border of tongue
Open bite
Associated with Beckwith Wiedemann Syndrome
12. BECKWITH WIEDEMANN SYNDROME
Omphalocele
Visceromegaly
Dr. Ali Tahir
Gigantism
Neonatal hypoglycemia
Increased susceptibility
to visceral tumours
13. SOFT TISSUE ABNORMALITIES
Fordyce Granules
Multiple small yellowish maculo-papular structures
Dr. Ali Tahir
Collection of ectopic sabaceous glands within oral
cavity
Most commonly on buccal mucosa & upper lip
80% of population
More common in adults than children, puberty may
stimulate their development
16. LEUKOEDEMA
Accumulation of fluid within spinous layer of
epithelial cells of buccal mucosa
Clinical Features:
Dr. Ali Tahir
Involves buccal mucosa bilaterally
Lateral boder of tongue
Asymptomatic translucent grayish white
More common in blacks (70-90% of blacks)
Doesn’t rub off. Surface may be wrinkled
Typically occurs bilaterally on buccal mucosa
White appearance disappears when the cheek is
stretched (or everted)
18. LEUKOEDEMA
Histopathology
Mild degree of parakeratosis, acanthosis and
accumulation of fluid and glycogen results in
Dr. Ali Tahir
enlarged spinous layer.
Cells have pyknotic, shrunken nuclie
20. SOFT TISSUE ABNORMALITIES
White Sponge Nevus
Autosomal dominant hereditary condition
Dr. Ali Tahir
Oral mucosa is white, thickened and folded
May be present at birth or may appear at early
childhood/adolescence
Cause:
Mutation in keratin pair K4 and K13
Clinical Features
Asymptomatic, whitish
May appear translucent similar to leukoedema
May be widespread involving buccal
mucosa, tongue, gingiva, palate, floor of mouth
21. Histopathology
Mild to moderate
Dr. Ali Tahir
Hyperparakeratosis
Acanthosis
Intracellular edema of
spinous cell layer
22. SOFT TISSUE ABNORMALITIES
Lingual Thyroid Nodule
A submucosal nodule of
accessory thyroid tissue
Dr. Ali Tahir
located in mid-posterior
tongue
At 7th embryonic week,
thyroid bud normally
descends into the neck
to its final position
The site where it
descends, invaginates
to form foramen
caecum
23. Clinical Features
More common in females
Dr. Ali Tahir
Becomes clinically apparent at puberty &
adolescence, pregnancy or menopause
2-3cm smooth sessile mass located at mid
posterior dorsum of tongue
Dysphagia, dysphonia, dyspnea
In 70% of cases, this ectopic gland is the
patients only thyroid tissue
Histopathology:
Normal thyroid tissue, although fetal thyroid tissue may
be seen
25. DISTURBANCES INVOLVING BONE
Hemifacial hypertrophy
Cause:
Dr. Ali Tahir
Increased neurovascular
supply to the affected face
Increased prevalence of
abdominal tumours
especially Wilm’s tumor of
kidney
26. CLINICAL FEATURES:
Female predilection
More on right side
Enlargement of affected side of face, soft tissues,
teeth, frontal bone, maxilla, palate, mandible, alveolar
Dr. Ali Tahir
process, condyles
Skin of affected side is thick & coarse
Hypertrichosis
Unilateral enlargement of cerebral hemispheres may
result in
Retardation
Seisures
27. CLINICAL FEATURES
Premature development & eruption of teeth which
may be enlarged in size
Dr. Ali Tahir
Unilateral macroglossia
Malocclusion
D.D
Neurofibromatosis
Fibrous dysplasia
28. DISTURBANCES INVOLVING BONE
Hemifacial Atrophy
(Romberg Synd)
Dr. Ali Tahir
Degenerative condition
characterized by atrophic
changes affecting one
side of face
Cause:
Peripheral Nerve
Dysfunction
Trauma
Infection
29. CLINICAL FEATURES
Onset usually in first two decades of life
Begins as atrophy of skin & subcutaneous
Dr. Ali Tahir
structures
Bone may also be affected
Female predilection
Skin may show dark pigmentation
Sharp line of demarcation may be obvious
resembling a linear scar between normal &
abnormal skin (strike of sword)
Enophthalmos
Hollowing of cheeks & orbit
TN, migraine, or
30. CLINICAL FEATURES
Mouth & nose deviated
towards the affected
Dr. Ali Tahir
side
Unilateral posterior
open bite
Delayed eruption
32. HEREDITARY ECTODERMAL DYSPLASIA
Genetic disorder
X-linked & autosomal recessive
Dr. Ali Tahir
Males & females
Affects skin appendages (hair, sweat glands) &
teeth
Mortality is related to inability to control body
temperature b/c of absence of sweat glands
Hypodontia or rarely anodontia
33. CLEIDOCRANIAL DYSPLASIA
Abnormal growth of
bone of
face, scalp, clavicle
Dr. Ali Tahir
and failure of tooth
eruption
Autosomal dominant
Genes that influence
osteoblast
differentiation are
affected
Short statured with
frontal & parietal
bossing
34. CLINICAL FEATURES
Disproportional of facial and skull bones
Capacity to bring the shoulders near the midline of
Dr. Ali Tahir
chest
Muscles ass with the clavicle are also affected
Frontal bossing
Prolonged retention of deciduous teeth
Delayed or failure of eruption of permanent &
supernumerary teeth
35. CLEIDOCRANIAL DYSPLASIA
Radiographic features
Wormian bones showing tortuous suture
lines
Dr. Ali Tahir
Sutures show delayed closure
Lack of nasal bridge
Clavicles may be hypoplastic or absent
Retention of primary dentition
Supernumerary teeth
Mandible looks enlarged because of
hypoplastic maxilla
37. SYNDROMES
Crouzon Syndrome (Cranio-facial Dysostosis)
Autosomal Dominant disorder
Dr. Ali Tahir
Characterized by premature closure of cranial bone
sutures
Cause: Mutation in fibroblastic growth factor 2
38. CROUZON SYNDROME (CRANIO-FACIAL
DYSOSTOSIS)
Features
Maxillary hypoplasia
Short upper lip
Dr. Ali Tahir
Widely spaced eyes
Shallow orbits with
protruding eye-balls
Crowding of Maxillary teeth
Posterior cross-bite
Poor vision and hearing
Calcified stylohyoid ligament
Headaches due to increased
intracranial pressure
40. CLINICAL FEATURES
Notched lower eyelid
Hypoplastic zygoma
Depressed cheeks
Dr. Ali Tahir
Downward slopping of lower eyelids
Narrow face
Condylar and coronoid hypoplasia with retruded
chin
Hypoplastic earlobes
Macrostomia
Hypoplastic ear lobes, malformed pinnae, defective
middle year structures, resulting in varying hearing
loss
Cleft palate may be seen
44. PAPILLON-LEFEVRE SYNDROME
Autosomal Recessive
Severe destructive periodontal
disease affecting the primary
Dr. Ali Tahir
and permanent dentition
Hyperkeratosis of palms of
hands and soles of teeth
Etiology:
Immunological disorder
Impaired activity of T and B
cells
Chemotactic defect
Reduced ability to eliminate
staph. Aureus and candida
45. PAPILLON-LEFEVRE SYNDROME
Features:
Normal development and eruption of teeth is
Dr. Ali Tahir
followed by palmer and plantar keratosis
with gingival swelling and bleeding
PDL pocket formation precedes the loss of
deciduous teeth by the age of 4 years
Gingiva becomes normal untill eruption of
permanent teeth
Destructive PDL disease reappears and
permanent teeth are lost by the age of 14
years
48. BACKGROUND
The typical number of chromosomes in human cell
is 46 – 22 pairs of autosomes & 1 pair of sex
chromosomes X & Y
One set of 23 chromosomes is inherited from
biological mother (egg) & the other set is inherited
from biological father (sperm)
49.
50. BACKGROUND
When an individual is missing a chromosome from
a pair Monosomy e.g. Turner syndrome
When an individual has more than two
chromosomes of a pair Trisomy
Trisomy 21 Individual has three chromosomes in
pair 21 rather than two
51.
52. SYNDROMES
Down’s Syndrome (trisomy 21)
Types:
Non-Disjunction (95%)
47 chromosomes
Translocation (5%)
Mosaicism (rare)
More prevalent after 40yrs of age
53. DOWN’S SYNDROME
Clinical Features:
May have eyes that slant upward.
Small ears that may fold over at the top.
Small mouth, making the tongue appear large.
Small nose, with a flattened nasal bridge.
Some babies may have short necks, small hands,
and short fingers.
Adults are often short with unusually limber joints.
54. ARE THEY DISABLE?
Children with Down syndrome can do most things
that any young child can do, such as
walking, talking, dressing, and trained, but usually
develop later than other children.
Down syndrome usually results in some degree of
mental retardation, the degree of which varies
widely. However, many will learn to read and write.
Many people with Down syndrome hold supported
employment, and frequently live semi-
independently
55. HEALTH PROBLEMS
Heart defects occur in 30-50%.
Intestinal malformations requiring surgery occur in
10-12%.
Visual and hearing impairments occur in > 50%.
Thyroid problems, adult onset leukemia, epilepsy,
diabetes, and Alzheimer's occur more frequently
Higher rate of infections due to compromised
immune system and decrease in number of T cells.
56. ORAL HEALTH PROBLEMS
Dry mouth caused by mouth breathing associated
with upper respiratory infections.
Periodontal disease accelerated by increased
number of infections.
Chronic dry mouth (xerostomia) and fissuring of
tongue and lips.
Apthous ulcers, oral candida infections, and acute
necrotizing ulcerative gingivitis
57. OROFACIAL FEATURES
Underdevelopment or hypoplasia of midfacial
region.
Smaller bridge of nose, bones of midface, and
maxilla.
Open bite or class III malocclusion.
Tongue may protrude and appear too large.
58. OROFACIAL FEATURES
Sides of the hard palate are abnormally thick, but it
gives the appearance that the palate is narrow with a
high vault
Occasionally palatal cleft-like folds are found
Reduced degree of muscle tone in lips and cheeks.
Small nasal passage contributes to mouth breathing.
Less space in oral cavity for tongue effecting speech,
mastication, and natural cleansing of teeth.
Force of tongue greater than force of teeth causing
class III malocclusion.
59. DENTAL PROBLEMS
Microdentia occurs in 35-55%
Hypoplasia and Hypocalcification are common
Congenitally missing teeth (partial anodontia) occur
in 50% of people with Down syndrome
Delay in the eruption of dentition
60. DOWN’S SYNDROME
Features (oral findings)
Broad lips
Open mouth with protruded
tongue
Macroglossia
Fissured Tongue
Fissured Lips
Narrow Palate
Malocclusion
Delayed Eruption of Primary
and Permanent teeth
Periodontitis
NUG
Xerostomia
61. IS THERE A CURE FOR DOWN SYNDROME?
No, there is no cure.
It cannot be prevented
Scientists do not know why problems
involving chromosome 21 occur.
Down syndrome is not caused by anything
either of the parents did or did not do.
62. WHO HAS AN INCREASED RISK OF HAVING A
BABY WITH DOWN SYNDROME?
Parent who already had one child with Down
syndrome.
Mother over 35 years old
Triple screening: Detection of AFP (alpha feto-
protein), un-conjugated estriol and hCG (human
chorionic gonadotropin) in second trimester helps in
screening down’s during embryonic life
63. Trisomy 21 is present in 95 percent of persons with
Down syndrome.
Mosaicism, a mixture of normal diploid and trisomy
21 cells, occurs in 2 percent.
(Mosaicism is a condition in which cells within the
same person have a different genetic makeup)
The remaining 3 percent have a Robertsonian
translocation in which all or part of an extra
chromosome 21 is fused with another chromosome.
64.
65. Persons with Down syndrome usually have mild to
moderate mental retardation
School-aged children with Down syndrome often
have difficulty with language, communication
Adults with Down syndrome have a high prevalence
of early Alzheimer's disease
66. THE RISK OF HAVING A CHILD WITH DOWN
SYNDROME
1/1,300 for a 25-year-old woman;
at age 35, the risk increases to 1/365
At age 45, the risk of a having a child with Down
syndrome increases to 1/30
