Common syndromes affecting the head & neck

1. M.Ekram
Common Syndromes
affecting Face and jaw bones
Prof. M.Ekram

2. M.Ekram
What is meant by a syndrome ?
A set of symptoms (symptom complex)
or physical conditions that occur together
giving the picture of a particular disease or
abnormality.

3. M.Ekram
Gardner's syndrome
Intestinal Polyposis Syndrome

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Gardner's syndrome
In 1951 Gardner initiated a series of articles
described a syndrome involving:
polyposis of the large intestine
Osteomas or bony exostosis

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Gardner's syndrome
Epidermoid cysts
and fibromas
Multiple large epidermoid cysts.

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clinical picture
Complete triad occurs in less than 10% of the affected
patients.
The mean age of onset is 22 years with a chance of
malignant transformation of the polyps before puberty
and 50% chance by the age of 30 years.
Typical findings are: rectal bleeding, diarrhea and
abdominal pain

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Skeletal manifestations include
osteomas that arise from either the
inner or outer cortical tables of flat
bones specially the sinus mandible or
long bones.
Soft tissue lesions include
epidermoid cysts, sebaceous cysts,
fibromas, lipomas, and fibrosarcoma,
occuring anywhere in the body.
Gardner's syndrome

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Gardner's syndrome
Jaw lesions
Multiple osteomas.
Radiographic picture
Multiple radiopacities
Generalized radiopacities

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Typical oral findings include multiple odontomas,
impacted or supernumerary teeth.
Gardner's syndrome

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Basal Cell Nevus Syndrome
Nevoid Basal Cell Carcinoma Syndrome
Gorlin-Goltz syndrome
Age: starts early in life between 5 to 30ys.
Gender : Occurs equally in both sexes.

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Skull :True hypertolarism,
broad nasal bridge, fronto-
parietal bone bossing with
prominent supraorbital ridges
and mild mandibular
prognathism.
Skeletal lesions :Bifid ribs and
other skeletal abnormalities.
Gorlin-Goltz syndrome
Abnormalities
Bifid ribs
Characteristic frontal bossing
and broad nasal root

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Skin lesions : Multiple nevoid basal cell carcinomas.
Gorlin-Goltz syndrome

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Jaw lesions : Multiple jaw cysts of variable sizes common
in the mandibular premolar - molar and maxillary third
molar regions appearing as multiple radiolucenceis
(multiple keratocysts).
Gorlin-Goltz syndrome

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N.B Lining of the
cyst is essentially
the same as in
keratocyst
Gorlin-Goltz syndrome

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Cleidocranial Dysplasia
(Dysostosis)

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Cleidocranial Dysplasia (Dysostosis)
Clinically
abnormalities in skull, jaws, teeth,
clavicles and long bones.(membranous
bone).
Skull: opened fontanels with delayed
ossification of cranial sutures leads to
prominent parietal, frontal and occipital
bossing ( large and wide).
Long bones: short and fragile.
Clavicles: defective or completely absent.

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cleidocranial dysostosis
Wide spaced sutures.
Frontal bossing and
increased of biparietal
diameter.
Radiologic findings
Of the skull

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Orally:
High arched palate.
Cleft palate is common.
Underdeveloped maxilla.
Retention of deciduous
teeth.
Delayed eruption of permanent teeth with multiple
impacted and supernumerary teeth.
cleidocranial dysostosis
Disturbed dentition

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Ectodermal
dysplasia

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Ectodermal dysplasia
A rare hereditary condition in which two or more
ectodermally derived tissues fail to develop.
Depending on the type of ectodermal dysplasia,
hypoplasia or aplasia of tissues such as skin, hair,
nails, teeth , sweat or salivary glands may occur.
The best known of ectodermal dysplasia syndromes is
the hypohydrotic ectodermal dysplasia

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Ectodermal dysplasia
Clinical features:
Heat intolerance due to a reduced number of sweat
glands (death may result from hyperpyrexia).
Xerostomia occurs according to the degree of
involvement of salivary glands.

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Ectodermal dysplasia
Clinical features:
Fine sparse blonde hair.
Reduced density of eyebrows
and eyelash hair.
Nails may appear brittle.

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Ectodermal dysplasia
Mid facial hypoplasia is
frequently observed with
frontal bossing and depressed
nasal bridge, this often results
in protruded lips.
Skin may show fine wrinkling
and pigmentation.
The face & skin

24. M.Ekram
Ectodermal dysplasia
In the absence of teeth, the jaws fail to develop normally
and and are overclosed. Such children have a
charachteristic prematurely senile “nutcracker” profile
commonly accentuated by the frontal bossing.
Frontal
bossin

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Ectodermal dysplasia
Dental findings
Hypodontia or oligodontia.
Anodontia is reported but is
uncommon.

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Oligodontia
No extractions performed
No extractions performed

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Ectodermal dysplasia
Dental findings
Characteristic abnormal crown
morphology of teeth, Incisors
are conical, tapered or pointed
and molar crowns are reduced
in diameter.

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Prosthetic management
Removable or partial dentures.
Fixed appliances.
Endosseous Implants

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Papillon-Lefevren
Syndrome 1924
hyperkeratosis palmoplantaris

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Papillon-Lefevren Syndrome 1924
hyperkeratosis palmoplantaris
It is a syndrome which includes both oral and
dermatologic findings.
Clinical findings:
Occurs in childhood and adolescents.
Diffuse or localized hyperkeratosis of palmar and pluntar
surfaces with some erythema.
Other sites as the dorsal surface of the fingers and toes,
elbows, legs, and rarely the trunk.

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Oral findings
1. Normally erupted primary teeth.
Once the teeth erupt, rapid progressing periodontitis appears
and is characterized by :
Markedly swollen and inflamed gingiva.
Fetid odor.
Regional lymphadenopathy.
Extensive bone resorption and deep pocket fromation.
Hypermobility, migration and exfoliation of teeth.
At the age of 4-5 years the child may become edentulous.
Periodontal findings

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Oral findings
2. After the eruption of permanent teeth:
The cycle starts again and by the age of 13 years or
after, the permanent teeth may become lost.
Radiographic findings
Severe loss of alveolar bone.
Teeth appear floating without bone support.

33. M.Ekram
Papillon-Lefevre syndrome (Case)
Radiographic survey for
7-years old female
Primary teeth lost prematurely
, first molars exfoliated one
year following eruption and
mandibular anterior teeth
exhibit severe periodontitis.
Same patient age 31
Keratnization of both palms and heels
with painful cracks through the
hyperkeratotic area on the heel. The
skin on the back of her hands is thin
hyperkeratotic, dry and erythematous.

34. M.Ekram
Total fixed reconstructions established
Papillon-Lefevre syndrome

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Eagl's syndrome
Stylohyoid syndrome
Carotid artery syndrome

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Eagl's syndrome
Stylohyois syndrome
Carotid artery syndrome
Is a common name for a series of
symptoms resulting from an
elongated styloid process or
calcified stylohyoid ligament.
Calssical signs and symptoms:
Persistant pain in the pharynx.

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Clinical manifestations
Dysphagia.
Lateral throat pain.
Foreign body sensation.
Difficulty in swallowing.
Tinnitus.
Pain may be referred to the TMJ.
Pain during turning of the neck along the distribution of
the internal and external carotid artery.

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Diagnosis
By palpating the styloid process in the
tonsillar fossa, pain is elicited.
The relief of symptoms following injection
of local anesthetic into the tonsillar fossa
is highly suggestive for the diagnosis.

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Radiographic picture
The styloid process is long,
tapered and appears as a thin
radiopacity between the ramus
and the mastoid proces.
The styloid process appears to
extend to the hyoid bone.
It is well presented in lateral
skull and panoramic views.

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41. M.Ekram
Sjogren's
syndrome

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Sjogren's syndrome
It is a chronic, systemic auto-immune
disorder that principally involves the salivary
and lacrimal glands, resulting in xerostomia
(dry mouth) and xerophthalmia (dry eye).
The effects on the eye often are called
Keratoconjunctivitis sicca (sicca=dry).
The clinical presentation of both xerostomia
and xerophthalmia is sometimes called the
sicca syndrome.

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Sjogren's syndrome
Forms of the disease:
Primary Sjogren's syndrome: sicca syndrome alone; no
other auto-immune disorders are present.
Secondary Sjogren's syndrome: the patient manifests the
sicca syndrome with other auto-immune disorders.
Age : middle aged adults.
Gender : more in females.
Clinical features

44. M.Ekram
Clinical features
Primary Sjogren's syndrome:
Salivary gland and oral manifestations
Xerostomia.
Difficulty of swallowing.
Altered taste.
Tongue is atrophic and fissured.
Oral mucosa becomes red and tender.
Candidosis : denture stmatitis and angular cheilitis.
Teeth decay especially cervical caries.
Increased incidence of periodontal disease.
Intermittent or persistent diffuse firm enlargement of
salivary glands which may be slightly tender.
Eye manifestations
Xerophthalmia.
Keratoconjunctivitis.

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Clinical features
Secondary Sjogren's syndrome:
In addidion to the symptoms of the
primary type, the disease may
accompany:
Rheumatoid arthritis (RA).
Systemic lupus erythematosus (SLE).
Progressive systemic sclerosis (PSS).

46. M.Ekram
Sialography
for the major salivary glands

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sialography

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sialography
sialography

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Normal parotid glandNormal submandibular gland
sialography

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Sjogren's syndrome
Sialographic features
Widespread dots or blobs of contrast
medium within the gland, an
appearance known as punctate
sialectasis or snowstorm. This is
caused by weakening of the
epithelium lining the intercalated ducts
allowing the contrast medium to get
out of the ducts.
The mian duct is usually normal.
Considerable retention of the contrast
medium during the emptying phase.
Sialogram of a parotid gland
affected by Sjogren's syndrome

51. M.Ekram
Down’s Syndrome
Trisomy 21 syndrome

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It is the most common Chromosomal abnormality to
occur in man.
It is a disease associated with subnormal mentality in
which an extremely wide variety of anomalies and
functional disorders may occur, two of the chief types
being cranial and facial deformities.
Etiology
Chromosomal abnormality.
Advanced maternal age.
Placental abnormalities.
Down’s Syndrome
Trisomy 21 syndrome
A disorder appeared in a brief report by John Langdon Down in
1866 and clearly defined the physical features of this syndrome.

53. M.Ekram
Clinical features
Flat face (mongoloid face)
Frequent prognasthism.
Flat nasal bridge.
Small slanting eyes with epicanthal folds.
Abnormalities and hypermobility of the joints.
Downs syndrome

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Clinical features
Open mouth and open bite.
Malocclusion.
Downs syndrome
Open mouth
Open bite

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Radiographic features
Large anterior fontanels
Open sutures.
Downs syndrome

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Oral manifestations
Macroglossia and tongue
protrusion.
Fissuring and pebbling of the
tongue.
Teeth: malformation,
hypoplasia and microdontia.
Downs syndrome

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Oral manifestations
High arched palate.
Teeth: malformation,
hypoplasia and microdontia.
Downs syndrome
High arched palate.

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Downs syndrome
Severe forms of periodontal disease.

59. M.Ekram
Thank you