Systemic diseases affecting the Jaws

imp down sydrome and gorlin goltz

mccune albright syndrome

cleidocranial dysplasia and
pcynodysostosis

IMPPP
So that the cleidocranial is maxilla and the pcynodystostosis one is maxilla and mandible and
the mccune one has round glass appearance
And how ectodermal affects the teeth not bone.

Many have mixed or radiolucent lesions - syndromes

Red alterations of the jaw

Systemic diseases:

- Affect a range of organs and tissues and produce a wide variety of symptoms.

- Many systemic diseases, such as systemic bone diseases and deformity, endocrine
disorders, metabolic disorders, infectious diseases, and collagen diseases, have associated
oral symptoms.

Syndrome – series of characteristics that happen at the same time in a pt. affect at least 3
different areas/alterations.
Most of the syndromes affecting the jaws will be involving metabolic disorders, infectious
diseases e.g. widespread generalised osteomyelitis in pts with bad systemic conditions,
collagen diseases, alterations of certain types of cells. Collagen is present in CT of the oral
mucosa.
Cleidocranial dysplasia (dysostosis)

- CCD is an autosomal dominant malformation syndrome affecting the bones and teeth
- absence of clavicles, open anterior fontanelle and cranial sutures

In the jaws, the maxilla and paranasal sinuses are underdeveloped, resulting in
maxillary micrognathia.
There is prolonged retention of the primary teeth and multiple unerupted permanent teeth and
supernumerary teeth.

Mandible also altered since maxilla is under developed – micrognathia – also

underdeveloped sinuses.
Narrow shoulders, no clavicles – bone issues, underdeveloped mandible, open fontanelle,
open sutures – disrupted osteoblasts
Several mineral structures not formed properly. Under development of bone and teeth – also
mineralised structures.
Supernumerary teeth due to disruption of the germs’

(a
)

Tuberosity smaller, ending more forward, teeth past tuberosity, very small maxilla,
underdeveloped from opg, teeth not fitting, no space for permanent teeth, defect in
mineralization. Even mandible underdeveloped. Premolars unerupted.
Curve of mandible – usually thicker and wider.
Coronoid process usually superimposed to sinus and zygomatic bone, here not even close.
Disrupted formation, mineralized structure problems.
 (b (c)
)

.
Figure 1: Cleidocranial dysplasia
Open suture.
Posterior anterior chest xray.
McCune-Albright syndrome

-10 years old and younger

-three symptoms of polyostotic fibrous dysplasia (FD, The variation is more pronounced in
the mandible and more homogeneous in the maxilla. The internal density is more radiopaque
in the maxilla, cutaneous pigmentation (café-au-lait spots), and hyperfunction of one or
more of the endocrine glands.

Endocrine function abnormalities such as hyperthyroidism, pituitary gigantism,

hyperparathyroidism, merger of diverse and low-phosphorus blood rickets

Longer cranium than the face, trabecular bone, grey smoke opg.
Multiple fibrous dysplasia, disruption of tissues of epithelial origin – skin, glands from
ectoderm.
Also, problems related to bone, hyperthyroidism, hyperparathyroidism
ground glass aspect – multiple fibrous dysplasia.

(a)

Maxilla, localised expansive lesion – right anterior maxilla. Can’t see sinus, seen on the left.
Foggy – ground glass appearance characteristic of fibrous dysplasia.
Bone matrix and structure disrupted.
(b) (c)

Figure 2: McCune-Albright syndrome

Femoral head usually very tough bone, many spaces showing disrupted bone structures,
areas of disruption in the skull,
Disrupted cortical bone on trabecular bone areas – ground glass alterations – fibrous
dysplasia, being superimposed even on the orbit,

Ectodermal dysplasia
- characterized by defects of two or more ectoderm-derived structures, such as hair,
teeth, nails, and sweat glands

The dental phenotype consists of various degrees of oligodontia with other dental
abnormalities (moderate oligodontia, conical incisors, and delayed dental eruption) [32,35] or
Taurodontism

In panoramic radiographic images, hypodontia of one or more type of teeth associated with
cleft palate or complete cleft lip are usually shown in ectodermal dysplasia cases.
Not only glands, teeth, bone skin but hair nails. Tooth germ problems too - oligodontia
Very similar to mccune but chromosome is different.
Enamel ectodermal structure too, nails, hair
Oligodontia more than 10? The ones present have enamel problems, conical incisors,
delayed eruption, impacted canines, some not erupting properly, cleft lip/palate, larger pulp
chambers problem with dentine – taurodontism .
Small roots, less formed apices, alterations of ectoderm
Can have cleft lip.
D and e, premolars are missing, oligodontia, canine impaction eruption is disrupted. Conical
incisors visible. Delayed eruption. Ectodermal issues.

Figure 3: Ectodermal dysplasia

Pycnodysostosis
- autosomal recessive disorder
- short stature, severe sclerosis of skeletal bone, dysplasia of the clavicles, acro-
osteolysis of distal phalanges, deformity of the skull, midfacial hypoplasia
Absence or hyperpneumatization of the paranasal sinuses, narrow and/or grooved palate,
generalized osteosclerosis and fragility of bone.
The maxilla and mandible exhibit marked hypoplasia; the maxilla is narrow, and the
mandibular ramus and the body of the mandible are thin. On panoramic radiographs, the
mandibular notch appears like a deep depression, and the condyle and coronoid process
are elongated.
Family history
Cleidocranial dysplasia- underdevelopment of sinus, along with maxilla
Pycnodystostosis- a lot of cortical bone growing where it shouldn’t be
Tori
Large sinuses, disrupted bone, coronoid, sigmoid notch disrupted, condyle head disrupted,
maxilla more atrophic, see teeth but not the bone. Alv crest closer to apices.

(a)
 (c)
(b)

(d) Sclerosis of bone, finger

problems. Short stature.
Hyperpneumatisation of the
sinuses.
Osteosclerosis, radioopaque areas
of sclerosis – cortical bone in
areas cortical bone not normally
seen. Sinuses big, maxilla and
mandible are thin. Phalange
disruptions.
Impaction, delayed eruption.

Figure 4: Pycnodysostosis
Papillon-Lefèvre syndrome
- autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe
early-onset periodontitis.

The onset of the disease usually coincides with the eruption of the primary teeth, and is
marked by gingival inflammation and subsequent rapid destruction of the periodontium.

Looseness, hypermobility, drifting and exfoliation of teeth without signs of root resorption.

Hyperkeratosis – thickening of stratum corneum, a lot of keratinized tissue. Inflammation

will lead to bone loss. Periodontal problems, gingival inflammation. Loose teeth. Eruption
before time to erupt. With no sign of root resorption. Low level of alv crest. Bleeding gums
inflammation of other mucosas.

Figure 5: Papillon-Lefèvre syndrome

Crouzon syndrome
- autosomal dominant disorder characterized by craniosynostosis.

Crouzon syndrome affects cranial development and is characterized by craniosynostosis,

exophthalmos, strabismus, hypertelorism, and midface hypoplasia. A characteristic
radiographic finding is the presence of multiple radiolucencies appearing as depressions (so-
called digital impressions) on the inner surface of the cranial vault, resulting in a beaten metal
appearance

Asymmetry of bone and Dental features including crowding of teeth, hypodontia, and a
posterior lateral crossbite – mandible less effected than maxilla.

Affects maxilla more than the mandible, spots in the cranium, depressions all over in 3d
image, underdevelopment of the done, systemic issues,
Eyes pooping out of the orbit. Cranium underdevelopment.

(a)
 (b) (c)

Mandible less effect, mid third of face completely disrupted, orbit disrupted. Eyes popping
out
Maxilla and facial bone underdeveloped.
Figure 6: Crouzon syndrome
Basal cell nevus syndrome IMPIMIPMPIMPMPIMP
- Gorlin and Goltz in 1960 established a classical triad of multiple basal cell
carcinomas (BCCs), multiple keratocysts of the jaws, and bifid ribs as characteristics of
basal cell nevus syndrome.
Multiple jaw KCOTs are seen in 75–90% of patients with BCNS, and are the first sign in
75% of patients.

Mulitple OKCs and basal cell carcinomas, mostly skin of the head,and bifid ribs – bifurcating
disrupted formation of ribs and spine
Okcs common with impacted third molars, pushing the tooth, superimposed with mandibular
canal. Expansion of right side, maxilla beginning of lesion 28 pushing tooth away and
limiting of sinus by lesion, septum in the sinus.
IMPPPPPPPPP GORLIN GOLTZ SYNDROME
Yellow cyst characteristic of cholesterol crystals in okc, high rate of reccurence.

(a)
 (b) (c)

Lesion in the ramus, maxillary sinus, main

lesions in the mandible – like okc, ribs aspect
of bifid, look divided into 2.
Some basal carcinomas in the skin.

Ameloblastomas more in post mandible –

more root resorption, wider buccolingually .

Figure 7: Basal cell nevus syndrome

Down Syndrome
People with DS have many intraoral features such as congenitally missing teeth, microdontia,
impacted teeth, malocclusion and severe periodontal disease. Orthodontic problems arise in
almost all individuals with DS. Upper airway narrowing may also be present.

Down syndrome ramus is underdeveloped, square shaped, underdevelopment of root,

oligodontia, delayed eruption. Crowding – dental hygiene is a challenge. Underdeveloped
coronoid process, not superimposed by tuberosity.
ortho problems - root resorption looks like did ortho,

Figure 8: Down syndrome

Gardner syndrome
- characterized by diffuse intestinal polyposis, osteomas, fibromas, and epidermal or
sebaceous cysts, which seemed to have an autosomal dominant pattern of inheritance.

Dental abnormalities include an increased frequency of supernumerary and impacted teeth

and odontomas.
Osteomas composed solely of compact bone are uniformity radiopaque.
Osteomas containing cancellous bone show evidence of internal trabecular structure.

Radiopaque alterations, mccune Albright mixed.

Multiple osteomas – very dense radiopaque benign tumor of cortical bone in trabecular
area. Osteosclerosis wouldn’t be well limited. Looks like osteomyelitis too.
Supernumary, impacted teeth.
odontoma – radioopaque tumor – complex or compound odontoma – compound resemble
shape of teeth. Looks like an infection – bone growing all over the place, more radiopacity.
Big osteoma. Radio-opaque areas within trabecular tissues, islands of bone, delayed
eruption. Cysts in the skin.

(a
)

(b) (d
(c) )

Figure 9: Gardner syndrome