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Flashcards in Developmental Mucocutaneous Diseases Deck (40)
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1

what are the 4 Developmental Mucocutaneous Diseases discussed in this section?

1) Ectodermal dysplasia

2) White sponge nevus

3) Peutz-Jeghers syndrome

4) Hereditary hemorrhagic telangiectasia

2

what is the most common, and well known, form of ectodermal dysplasia?

Hypohidrotic ectodermal dysplasia

3

what is the definition for "ectodermal dysplasia"?

Group of inherited disorders in which:

two or more ectodermally derived structures do not develop normally or fail to develop

4

what kinds of ectodermal structures can be effected by ectodermal dysplasia?

Skin, hair, nails, teeth or sweat glands

5

T/F: For ectodermal dysplasia, there are Several patterns of inheritance depending on the type

True

there are over over 170 different subtypes, each with its own inheritance pattern

6

what are the extra oral symptoms of Hypohidrotic E. D.?

Heat intolerance due to reduced sweat glands

Fine, sparse blonde hair, eyebrows, eyelashes

7

what are the oral effects of Hypohidrotic Ectodermal Dysplasia?

Oligodontia (lack of development of 6 or more teeth)

conical teeth

8

how is ectodermal dysplasia managed?

Genetic counseling

Prosthetic dental management – based on the specifics of the case

9

what are the prosthetic dental options for Ectodermal Dysplasia?

Dentures
Overdentures
Fixed appliances
Dental implants

10

what are the odds of 2 offspring both having Polygenetic Oligodontia?

1:100,000

11

What is the inheritance pattern for White Spot Nevus?

Autosomal dominant

12

White Sponge Nevus is a type of "_______________", meaning its a genetically-determined skin disorder

genodermatosis

13

when is white spot nevus usually diagnosed?

Usually first noticed at birth or in early childhood, sometimes noticed first in adolescence

14

what defect causes white sponge nevus?

Due to a defect in the normal keratinization of the oral mucosa

keratins 4 and 13

15

what are the oral findings for white spot nevus?

1) Asymptomatic, thick, white appearance of the buccal mucosa bilaterally

2) other oral sites may be affected as well

3) Nasal, esophageal, laryngeal, anogenital mucosa may also be involved

16

When diagnosing White Spot Nevus, ______________ is sometimes more diagnostic than a biopsy sample

Exfoliative cytology

17

what are the histological characteristics of White Spot Nevus?

A) Biopsy shows parakeratosis with acanthosis (thickening of the spinous layer)

B) Epithelial cells often show perinuclear eosinophilic condensation of cytoplasm; pathognomonic, or unique to WSN

18

what is the treatment protocol for White Spot Nevus?

1) No treatment is necessary

2) Reassure the patient that this is a harmless condition

3) Good prognosis

19

______________ syndrome is a relatively rare, but well recognized condition that is usually inherited as an autosomal dominant trait

Peutz-Jeghers Syndrome

20

About ___% of Peutz-Jeghers syndrome may represent new mutations

35%

21

what gene is mutated in Peutz-Jeghers syndrome?

what does this gene do?

SKT11 gene is affected – encodes for a serine/threonine kinase

22

what is the prevalence of Peuzt-Jeghers syndrome?

about 1 in 100,000 – 200,000 births

23

name the clinical characteristics of Peuzt-Jeghers syndrome:

A) Usually noticed in childhood

B) Characterized by freckle-like lesions which develop on the hands, periorificial skin (mouth, nose, anus, genital region) and oral mucosa

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

24

Peuzt-Jeghers syndrome can cause bowel obstruction due to _______________

intussusception
(“telescoping” of a proximal segment into a distal segment)

May self-correct but surgery is sometimes needed to prevent ischemic necrosis

25

patients with Peutz-Jeghers Syndrome have an increased susceptibility to cancer that is about _____ times greater than a control population

18 times

26

which forms of cancer are most common in Peutz-Jeghers syndrome?

GI, pancreas, male and female genital tract, breast and ovary

27

Histopathology of the GI polyps due to Peutz-Jeghers syndrome:

Gastrointestinal polyps appear as benign hamartomatous (tissues normally present in the affected part) growths of intestinal glandular epithelium

these are NOT precancerous (that would be gardeners syndrome)

28

what is the treatment protocol for Peutz-Jeghers?

Genetic counseling

Patients should be monitored for intussusception and for tumor development

29

what is the inheritance pattern for Hereditary Hemorrhagic Telangiectasia? how prevalent is the disease?

autosomal dominant disorder that is estimated to have a frequency of about 1 in 10,000

30

Hereditary Hemorrhagic Telangiectasia is caused by a mutation of what?

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