Developmental Mucocutaneous Disease

Question 1

4 main developmental mucocutaneous diseases

Answer 1

1. ectodermal dysplasia
2. white sponge nevus
3. Peutz-Jeghers syndrome
4. Hereditary hemorrhagic telangiectasia

Question 2

ectodermal dysplasia consissts of what

Answer 2

hypohidrotic ectodermal dysplasia

and polygenetic oligodontia

Question 3

what is ectodermal dysplasias

Answer 3

group of inherited disorders in which two or more ectodermally derived structures do not develop normally or fail to develop.
can be skins, hair, nail, teeth, or sweet glands
several patterns of inheritance depending on the type

Question 4

what is one of the best known forms of ectodermal dysplaisa?

Answer 4

hypohidrotic ED

Question 5

what is hypohidrotic E.D.

Answer 5

one of best known forms
reduced sweat glands leads to heat intolerance.
fine, sparse blond hair, eyebrowns and eyelashes
oligodontia, with conical teeth.

Question 6

management of ectodermal dysplasia

Answer 6

genetic counseling

prosthetic dental managament-dentures, overdentures, FIxed, implants

Question 7

white sponge nevus is a ____ ____ genetic disease

Answer 7

Autosomal dominant, genodermatosis, rare

Question 8

when is white sponge nevus first noticed?

Answer 8

at birth or early childhood

Question 9

what is white sponge nevus

Answer 9

defect in the normal keratinization of the oral mucosa

Question 10

white sponge nevus appears clinically…

Answer 10

asymptomatic, thick, white appearance of the buccal mucosa bilaterally, other sites can be affected as well.

nasal, esophageal, laryngeal, anogenital mucosa may also be involved.

Question 11

white sponge nevus histopath features

Answer 11

exfoliative cytology is sometimes more diagnostic than a biopsy sample
biopsy shows parakaratosis with acathosis (thickening of spinous layer)

Question 12

white sponge nevus epithelial cells often show..

Answer 12

perinuclear eosinophilic condensation of cytoplasm. pathognomonic or unique to WSN

Question 13

white sponge nevus treatment

Answer 13

no treatment is necessary. reasure the patient that this is harmless condition.
good prognosis.

Question 14

Peutz-Jeghers syndrome is a _____ ____ genetic disease

Answer 14

autosomal dominant
relatively rare, but well recognize
about 35% may represent new mutations.

Question 15

Peutz-Jeghers syndrome gene that is affected

Answer 15

SKT11, encodes for a serine/threonin kinase

frequency 1:100,000-200,000 births

Question 16

PJ usually noticed when?

Answer 16

childhood usually.

Question 17

PJ characterized by what

Answer 17

freckle like lesions which develop on the hands, periorifical skin (mouth, nose, anus, genital region) and oral mucosa

Polyps develop in the GI tract, especially the jejunum and ileum

Question 18

PJ intestinal problems

Answer 18

can cause bowel obstruction due to intussusception

can self correct but may need surgery.

Question 19

are the polyps in PJ precancerous like in gardners syndrome?

Answer 19

no they are not.

Question 20

patients with PJ do have an increased susceptibility to ______ that is 18 times greater than a control population

Answer 20

cancer

Question 21

PJ histopath

Answer 21

GI polyps appear as benign hamartomoatous (tissues normally present in the affected part) growths of intestinal glandular epithelium, unlike the polyps of gardner syndrome, which are clearly premalignant.

Question 22

PJ treatment

Answer 22

Genetic counseling

Patients should be monitored for intussusceptin and for tumor development.

Question 23

Hereditary Hemorrhagic Telangiectasia

Answer 23

uncommon AD disorder, 1 in 10,000

Question 24

Hereditary Hemorrhagic Telangiectasia due to mutations in genes that affect….

Answer 24

one of 2 different genes, both of which play a role in blood vessel wall integrity and share similar clinical features.

Question 25

HHT clinical features

Answer 25

1. frequent spontaneous epistaxis often is the initial clue to the diagnosis.
2. numerous 1-2 mm red papules that blanch with diascopy are noted on the oropharyngeal and nasal mucosae.
3. lesions are most common on vermillion zone of lips, tongue, and buccal mucosa

Question 26

HTT clinical features 2

Answer 26

1. telangiectasia may be seen on hands and feets
2. also may involved the GI mucosa, GU mucosa, conjunctiva mucosa
3. Arteriovenous fistulas may affect the lungs (30% of patients), liver, 30% patients, or brain (10-20%) of patients.

Question 27

HHT diagnosis

Answer 27

if patient has 3 or 4 features

1. recurrent spontaneous epistaxis
2. telangiectasias of mucosa and skin
3. AV malformation involving the lung, liver, or brain
4. family history of HHT

Question 28

HHT histopath features

Answer 28

collection of thin walled blood vessels in the superficial CT

Question 29

HHT treatment

Answer 29

genetic counseling
mild- no treatment
moderate- selective cryotherapy or electrocautery of bothersome lesions
severe- septal dermoplasty to prevent epistaxis.

Question 30

HHT treatment continued

Answer 30

with significatn GI invovment and blood loss, iron replacement or transfusions

with AV fistula involving brain, prophlyactic antibiotics before dental procedures that cause bacteremia have been suggested due to 1% prevalance of brain abscess in these patients.

Question 31

HHT prognosis

Answer 31

generally good. 1-2% mortality is sometimes noted due to blood loss complications
if brain abscess develops then 10% mortality can be anticipated, despite early diagnosis and appropriate treatment.