Week 16: Oral Manifestations from Genetic Origin

Question 1

What is Cyclic Neutropenia?

Answer 1

A condition characterized by a cyclic decrease in neutrophilic leukocytes (neutrophils), called neutropenia.

Question 2

What gene is responsible for cyclic Neutropenia?

Answer 2

ELA-2 (ELANE) gene.

Question 3

What are main oral manifestations of cyclic neutropenia?

Answer 3

• Severe ulcerative gingivitis or gingivostomatitis.
• ulcers on the tongue and oral mucosa

Question 4

What do ulcers caused by cyclic Neutropenia look like?

Answer 4

• Ulcers vary in size and have a crater-like appearance
• They are very painful and often have a bleeding base.

Question 5

What happens over time due to repeated episodes of neutropenia and associated ulcerative gingivitis?

Answer 5

Servere periodontal disease develops, leading to bone loss, tooth mobility, and premature loss of teeth.

Question 6

How can the frequency of neutropenia cycles be determined?

Answer 6

Periodic neutrophil count are conducted to track the cycles.

Question 7

What is the key part of preventing the secondary infections in cyclic neutropenia?

Answer 7

-Use of preventative antibiotic therapy to protect against infections during neutropenia episodes.

Question 8

When should treatment be scheduled for cyclic neutropenia to reduce risks?

Answer 8

Treatment should be scheduled when neutrophils count are normal to reduce the risk of gingival hemorrhage and secondary infection.

Question 9

What other significant symptoms is associated with Papillon-Lefevre syndrome?

Answer 9

Hyperkeratosis of the palms of the hand and soles of the feet with a scaly red lesions

Question 10

What is the condition of patient with the Papillon Lafera syndrome at birth?

Answer 10

Patients are normal at birth, except for reddening and scaly keratosis on the palms and soles

Question 11

How do the teeth erupt in papillion-lefevre syndrome?

Answer 11

Teeth erupt in normal sequence, but gingivoperiodontal inflammation starts around two years of age.

Question 12

By what age are all permanent teeth are typically lost in papillon- lefevre syndrome?

Answer 12

All permanent teeth are typically lost before age 14

Question 13

What is gingival fibromatosis?

Answer 13

A condition characterized by overgrowth of the gingival tissue leading to enlarged gums.

Question 14

What syndrome is associated with gingival fibromatosis and hypertrichosis?

Answer 14

Gingival fibromatosis with hypertrichosis involves excessive hair growth on the eyebrows extremities, genitals, and sacral regions

Question 15

What is associated with gingival fibromatosis with multiple hyaline fibromas?

Answer 15

Gingival fibromatosis along with:
- hypertrophy of nail beds
- multiple hyaline fibromyalgia on the nose, chin, head, back, fingers, thighs, and legs

Question 16

What is Cherubism?

Answer 16

Cherubism is an autosomal dominant inheritance syndrome characterized by excessive bone degradation in the upper and lower jaw followed by the development of fibrous tissue masses, causing characteristics facial swelling.

Question 17

When does rapid bone degradation begin in Cherubism?

Answer 17

Rapid bone degradation typically begins around three years of age, leading to the formation of symmetrical cyst in the mandible and maxilla

Question 18

What is the typical age range for the onset of progressive bilateral facial swelling in Cherubism?

Answer 18

Progressive, bilateral facial swelling typically occurs between 1 to 4 years of each

Question 19

Which jawbone is mostly affected in cherubism?

Answer 19

The mandible is mostly affected

Question 20

How does cherubism affect the eyes when maxilla is involved?

Answer 20

When cherubism affects the maxilla, the infraorbital bones enlarge, this causes the eye to tilt upward resembling the eyes of cherubs in religious painting

Question 21

What is the key facial feature that is always present in cherubism?

Answer 21

Increased distance between the eyes is always present in affected patient

Question 22

What is Ellis-van Creveld syndrome?

Answer 22

Ellis-van creveld syndrome is a rare genetic disorder, characterized by short stature, polydactyly, and congenital heart defects

Question 23

How is Ellis-van syndrome inherited?

Answer 23

The syndrome is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene – one from each parent – for the disease to manifest.

Question 24

What are the key features of Ellis van gravelled syndrome?

Answer 24

Short stature, polydactyly, (extra fingers or toes) congenital heart defects, Dental , anomalies, and hypoplastic nails

Question 25

What is cleidocranial dysplasia (CCD)?

Answer 25

CCD is a rare genetic disorder affecting bone and teeth development characterized by under development or absent, collarbones, short stature, and distinctive facial features

Question 26

What cranial feature is characteristics of CCD

Answer 26

Individuals with CCD often exhibit a mushroom, shaped cranium, due to open fontanelles, resulting in smaller facial appearance.

Question 27

What is the most striking in oil manifestation of CCD?

Answer 27

Presence of multiple supernumerary teeth, which can delay eruption of permanent teeth

Question 28

What is another name for hereditary hemorrhagic telangiectasia (HHT)

Answer 28

Olser-rendu-parkes Weber syndrome

Question 29

What is the most common and distinguishing characteristic of HHT?

Answer 29

Severe and recurrent nosebleed lasting for days

Question 30

What are the types of Amelogenisis Imperfecta?

Answer 30

Type I: hypoplastic
Type II: hypocalcified
Type III: hypomaturation
Type IV: hypoplastic- hypomaturation

Question 31

Type I: HYPOPLASTIC

Answer 31

Enamel: hard but thin
Defects: Random pits on the labial and buccal surfaces of permanent teeth.
Pit size: Vary pinpoint to pinhead.
Arrangements: pits arranged in rows and columns