Developmental Mucocutaneous Disease

Question 1

Group of inherited disorders in which 2 or more ectodermally derived structures do not develop normally or fail to develop

Answer 1

Ectodermal dysplasia

Question 2

What parts of the body are affected by Ectodermal Dysplasia

Answer 2

Skin, nails, teeth, sweat glands

Question 3

What disorder is characterized by heat intolerance due to reduced sweat glands, with fine, sparse blonde or light colored hair

Answer 3

Hypohidrotic Ectodermal Dysplasia

Question 4

What dental anomaly is associated with hypohidrotic ectodermal dysplasia

Answer 4

Oligodontia and conical teeth

Question 5

How do you manage Ectodermal Dysplasia systemically and dentally

Answer 5

Genetic Counseling and prosthetic dental management (dentures, FPD, implants)

Question 6

What is a second type of Ectodermal Dysdplasia

Answer 6

Polygenetic oligodontia

Question 7

What condition is a result of a defect in the normal keratinization of the oral mucosa (over-production)

Answer 7

White Sponge Nevus

Question 8

What is the cause of White Sponge Nevus and how common is it?

Answer 8

AD, relatively rare

Question 9

When is White Sponge Nevus usually first noticed?

Answer 9

Birth or early childhood, sometimes adolescence

Question 10

What condition shows asymptomatic, thick, white appearance of the BM bilaterally?

Answer 10

White Sponge NEvus

Question 11

What other areas can be affected by white sponge nevus?

Answer 11

Nasal, laryngeal, anogenital, esophageal mucosa

Question 12

What are 2 diagnostic techniques for WSN

Answer 12

Exfoliative cytology and biopsy

Question 13

With WSN what does the biopsy show and what is pathognomic to WSN

Answer 13

Parakeratosis w/ acanthosis and epithelial cells show perinuclear eosinophilic condensation of the cytoplasm (unique)

Question 14

What is the treatment and prognosis for WSN

Answer 14

None, good prognosis

Question 15

What condition is characterized by freckle-like lesions on the hands, periorificial skin and oral mucosa?

Answer 15

Peutz-Jeghers Syndrome

Question 16

What is the cause of Peutz-Jeghers Syndrome, and how common?

Answer 16

Rare, AD, 35% new mutations, (1:100k-200k)

Question 17

What gene is affected in Peutz-Jeghers Syndrome and what does it encode for? and when is syndrome reconized

Answer 17

SKT11 gene, encodes for threonine/serine kinase, childhood

Question 18

What are the GI complications with Peutz-Jeghers Syndrome? And what can result as a consequence

Answer 18

Non-malignant polyps develop in jejenum and ileum especially, can cause bowel obstrution (intussusception of proximal into distal segment)

Question 19

Are the polyps with Peutz-Jeghers Syndrome premalignant/increase cancer risk?

Answer 19

Not premalignant but 18x increased risk of HI, pancreatic, genitla, breast, or ovarian cancer

Question 20

How to the polyps with Peutz-Jeghers Syndrome appear histopathologically

Answer 20

Benign hamaratomatous growths of grandular epithelium

Question 21

Treatment for Peutz-Jeghers Syndrome

Answer 21

Genetic counseling, surgery if intussusception occurs

Question 22

What disease must have 3 of the 4 diagnostic features: Recrruent spontaneous epitaxis, telangiectasias of mucosa and skin, AV malformation invovling the lung, liver, or brain, family history of the disease?

Answer 22

Hereditary Hemorrhagic Telangiectasia

Question 23

How common and what is the cause of Hereditary Hemorrhagic Telangiectasia?

Answer 23

Unccommon (1:10,000), AD, mutation of 1 of 2 genes (both play a role in blood vessel wall integrity)

Question 24

What are telangiectasias and where can the be seen with Hereditary Hemorrhagic Telangiectasia?

Answer 24

Small collection of dilated capillaries

Oropharngeal, GI, genitourinary, conjunctival and nasal mucosa, hands, and feet

Question 25

What is the initial symptom of Hereditary Hemorrhagic Telangiectasia, what are noted on mucosa, and most common intraoral site

Answer 25

Epitaxis Numerous 1-2 mm red papules that blanch w/ diascopy noted on oropharyngeal and nasal mucosae Vermilion zone of lips, tongue, BM

Question 26

How often to arteriovenous fisutulas affect patients with Hereditary Hemorrhagic Telangiectasia, and the frequency of their locations?

Answer 26

Lungs (30%), liver (30%), brain (10-20%)

Question 27

What is the histopathologic feature seen with Hereditary Hemorrhagic Telangiectasia

Answer 27

Collection of thin-walled blood vessel in superficial CT

Question 28

How do you treat Hereditary Hemorrhagic Telangiectasia, (mild, moderate, and severe), with significant GI involvement

Answer 28

- Genetic counseling - Mild none - Moderate- Selective cyrotherapy or electrocautery of bothersome lesions - Severe- Septal dermoplasty to prevent epitaxis - GI- Iron replacement or transfusio (blood loss)

Question 29

What must be done for a patient with Hereditary Hemorrhagic Telangiectasia and in AV fistula of the brain in regards to dental treatment

Answer 29

- Prophylactic antibiotics before dental procedures that cause bacteremia due to 1% prevalence of brain abscesses in these patients

Question 30

Prognosis for Hereditary Hemorrhagic Telangiectasia

Answer 30

- Good, 1-2% mortality due to blood loss related complication, brain abscess develops (10% mortality)