Genetically Inherited, Endocrine Related Bone Disorders and Giant Cell Carcinomas

Question 1

What is Cherubism?

Answer 1

Benign, self-limiting, familial genetic disorder of childhood which causes bilateral & symmetrical enlargement of mandible, maxilla or both

Question 2

What is the clinical presentation of cherubism?

Answer 2

Bilateral & symmetrical enlargement of mandible, maxilla or both
This may lead to retraction of facial skin (including eyelids)

Question 3

What are the dental implications of cherubism?

Answer 3

Expansion of the maxilla or mandible could lead to:
Tooth displacement, altered eruption pattern, loosening/loss of teeth, speech alteration & visual impairment

Question 4

When taking a blood test for a patient with cherubism what may you expect to see?

Answer 4

Have increased alkaline phosphatase in active phases

Question 5

Radiographically what would you see in a patient with cherubism?

Answer 5

Multi-locular “Soap-bubble appearance” with prominent bony expansion
Thinning of cortices
Progressive replacement of vascular fibrous tissue with new bone

Question 6

What is the dental managment of cherubism?

Answer 6

Maintain good OH & detect unerupted teeth

Question 7

What is the pre and post puberty managments of cherubism?

Answer 7

Pre-Puberty – Surgery only performed in severe cases (functional benefit)

Post-Puberty (ceased growth) – Surgical correction of residual deformity +/- Orthodontic treatment for malocclusions

Question 8

What is primary hyperparathyroidism?

Answer 8

A relatively common disease in which there is excessive parathyroid hormone secretion normally as a result of:
- Parathyroid adenoma (80%)
- Idiopathic hyperplasia of the gland (15%)
- Parathyroid carcinoma (5%)

Question 9

What is secondary hyperpararthyroidism?

Answer 9

Reactive hyperplasia of the parathyroid glands, secondary to renal disease or intestinal malabsorption

Question 10

What is tertiary hyperparathyroidism?

Answer 10

Reactive hyperplasia of the parathyroid glands, secondary to renal disease or intestinal malabsorption but upon removal parathyroid gland remains hyperplastic

Almost same as secondary but remains hyperplastic

Question 11

What is the pathogenesis of hyperparathyroidism?

Answer 11

1. Excess parathyroid hormone excretion
2. Leads to osteoclastic stimulation and mobilisation of calcium from bone
3. Which causes stimulation of tubular re-absorption & phosphate excretion in urine

Question 12

Describe the blood chemistry of a patient with hyperparathyroidism

Answer 12

Intestinal calcium absorption and excretion of phosphate in the urine increasing
renal excretion of phosphorus

Serum PTH and calcium levels are therefore raised while serum phosphate levels are decreased

Alkaline phosphatase may also be raised

Question 13

What are the different manifestations of hyperparathyroidism?

Answer 13

Bone - Brown Tumours
Renal - Stones
GIT - GIT irregularities
General - Depression, fatigue & joint pain

Question 14

What are the two classifications of giant cell granulomas?

Answer 14

Central GCG
Peripheral GCG

Question 15

What are central GCGs?

Answer 15

Central GCG are localised, benign but sometimes aggressive osteolytic lesion of the jaws

Question 16

What are peripheral GCGs?

Answer 16

Peripheral GCG are a reactive localised proliferation occurring outside bone in the gingiva or alveolar mucosa

Question 17

What group and site are central GCGs most common in?

Answer 17

Female and mandible

Question 18

30% of cental GCG lesions follow an aggressive course characterised by what?

Answer 18

Pain
Tooth resorption
Tooth displacement
Cortical perforation with involvement of surrounding soft tissue

Question 19

What is the managment of central GCGs?

Answer 19

Curettage
Intralesional or Systemic medications
* Steroids, Calcitonin, Interferon & RANKL inhibitors

Question 20

What is the aetiology of peripheral GCGs?

Answer 20

Localised irritation of mucoperiosteum or coronal aspect of PDL (e.g. by calculus or other chronic irritants)

Question 21

What is the clinical presentation of peripheral GCGs?

Answer 21

Sessile (fixed) or pedunculated (growth on small stalk/stem), soft pink or purplish-blue lump
Smooth, ulcerated or papillomatous surface
No bony invasion but may result in shallow indentation of underlying alveolar bone

Question 22

What is the managment of peripheral GCGs?

Answer 22

Surgical removal – low recurrence rate if irritant is successfully removed