Week 16: Oral Manifestations from Genetic Origin Flashcards
What is Cyclic Neutropenia?
A condition characterized by a cyclic decrease in neutrophilic leukocytes (neutrophils), called neutropenia.
What gene is responsible for cyclic Neutropenia?
ELA-2 (ELANE) gene.
What are main oral manifestations of cyclic neutropenia?
- Severe ulcerative gingivitis or gingivostomatitis.
- ulcers on the tongue and oral mucosa
What do ulcers caused by cyclic Neutropenia look like?
- Ulcers vary in size and have a crater-like appearance
- They are very painful and often have a bleeding base.
What happens over time due to repeated episodes of neutropenia and associated ulcerative gingivitis?
Servere periodontal disease develops, leading to bone loss, tooth mobility, and premature loss of teeth.
How can the frequency of neutropenia cycles be determined?
Periodic neutrophil count are conducted to track the cycles.
What is the key part of preventing the secondary infections in cyclic neutropenia?
-Use of preventative antibiotic therapy to protect against infections during neutropenia episodes.
When should treatment be scheduled for cyclic neutropenia to reduce risks?
Treatment should be scheduled when neutrophils count are normal to reduce the risk of gingival hemorrhage and secondary infection.
What other significant symptoms is associated with Papillon-Lefevre syndrome?
Hyperkeratosis of the palms of the hand and soles of the feet with a scaly red lesions
What is the condition of patient with the Papillon Lafera syndrome at birth?
Patients are normal at birth, except for reddening and scaly keratosis on the palms and soles
How do the teeth erupt in papillion-lefevre syndrome?
Teeth erupt in normal sequence, but gingivoperiodontal inflammation starts around two years of age.
By what age are all permanent teeth are typically lost in papillon- lefevre syndrome?
All permanent teeth are typically lost before age 14
What is gingival fibromatosis?
A condition characterized by overgrowth of the gingival tissue leading to enlarged gums.
What syndrome is associated with gingival fibromatosis and hypertrichosis?
Gingival fibromatosis with hypertrichosis involves excessive hair growth on the eyebrows extremities, genitals, and sacral regions
What is associated with gingival fibromatosis with multiple hyaline fibromas?
Gingival fibromatosis along with:
- hypertrophy of nail beds
- multiple hyaline fibromyalgia on the nose, chin, head, back, fingers, thighs, and legs
What is Cherubism?
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.
When does rapid bone degradation begin in Cherubism?
Rapid bone degradation typically begins around three years of age, leading to the formation of symmetrical cyst in the mandible and maxilla
What is the typical age range for the onset of progressive bilateral facial swelling in Cherubism?
Progressive, bilateral facial swelling typically occurs between 1 to 4 years of each
Which jawbone is mostly affected in cherubism?
The mandible is mostly affected
How does cherubism affect the eyes when maxilla is involved?
When cherubism affects the maxilla, the infraorbital bones enlarge, this causes the eye to tilt upward resembling the eyes of cherubs in religious painting
What is the key facial feature that is always present in cherubism?
Increased distance between the eyes is always present in affected patient
What is Ellis-van Creveld syndrome?
Ellis-van creveld syndrome is a rare genetic disorder, characterized by short stature, polydactyly, and congenital heart defects
How is Ellis-van syndrome inherited?
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.
What are the key features of Ellis van gravelled syndrome?
Short stature, polydactyly, (extra fingers or toes) congenital heart defects, Dental , anomalies, and hypoplastic nails
What is cleidocranial dysplasia (CCD)?
CCD is a rare genetic disorder affecting bone and teeth development characterized by under development or absent, collarbones, short stature, and distinctive facial features
What cranial feature is characteristics of CCD
Individuals with CCD often exhibit a mushroom, shaped cranium, due to open fontanelles, resulting in smaller facial appearance.
What is the most striking in oil manifestation of CCD?
Presence of multiple supernumerary teeth, which can delay eruption of permanent teeth
What is another name for hereditary hemorrhagic telangiectasia (HHT)
Olser-rendu-parkes Weber syndrome
What is the most common and distinguishing characteristic of HHT?
Severe and recurrent nosebleed lasting for days
What are the types of Amelogenisis Imperfecta?
Type I: hypoplastic
Type II: hypocalcified
Type III: hypomaturation
Type IV: hypoplastic- hypomaturation
Type I: HYPOPLASTIC
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
