15: Developmental Mucocutaneous Diseases

Question 1

Ectodermal Dysplasia: Overview

Answer 1

2+ ectodermally-dervied structures do not develop normally, or fail to develop.
Skin, hair, nails, teeth sweet glands

Question 2

Ectodermal Dysplasia: Clinical Presentation

Answer 2

Heat intolerance
Fine/sparse blonde hairs
Oligodontia, conical teeth

Question 3

Ectodermal Dysplasia: Treatment

Answer 3

Genetic counseling

Prosthetic dental management

Question 4

Peutz-Jeghers Syndrome: Population

Answer 4

Childhood, 1 in 100-200,000

Question 5

Peutz-Jeghers Syndrome: Overview

Answer 5

AD, 35% new mutation
STK11 gene (serine/threonine kinase)

Question 6

Peutz-Jeghers Syndrome: Clinical Presentation

Answer 6

Freckle-like lesions (hands, periorificial skin, oral mucosa)
Polyps in GI tract (NOT precancerous)
Intussusception –> bowel obstruction
Increased cancer risk

Question 7

Peutz-Jeghers Syndrome: Histopathology

Answer 7

GI polyps are begging, hamartomatous growths of intestinal glandular epithelium

Question 8

Peutz-Jeghers Syndrome: Treatment

Answer 8

Genetic counseling

Monitor for intussusception, cancer

Question 9

White Sponge Nevus: Overview

Answer 9

AD, “genodermatosis”

Defect in normal keratinization of skin

Question 10

White Sponge Nevus: Clinical Presentation

Answer 10

Asymptomatic, thick, white appearance of buccal mucosa bilaterally

Question 11

White Sponge Nevus: Sites

Answer 11

Buccal mucosa bilaterally
Other oral sites
Nasal
Esophageal, laryngeal
Anogenital mucosa

Question 12

White Sponge Nevus: Diagnosis

Answer 12

Exfoliative cytology
Biopsy shows parakeratosis with acanthuses (thickening of spinous layer)
PAP smear for perinuclear eosinophlic condensation

Question 13

White Sponge Nevus: Histopathology

Answer 13

Epithelial cells show perinuclear eosinophilic condensation of the cytoplasm

Question 14

White Sponge Nevus: Treatment

Answer 14

None

Tetracycline rinse for cosmetics

Question 15

White Sponge Nevus: Prognosis

Answer 15

Good

Question 16

Perinuclear eosinophlic condensation

Answer 16

White sponge nevus (pathognomonic!)

Question 17

Acanthosis

Answer 17

White sponge nevus

Question 18

HHT: Overview

Answer 18

AD, 1 in 10,000

Mutation in gene of blood vessel wall integirty

Question 19

Telangiectasia definition

Answer 19

Small collections of dilated capillaries

Question 20

HHT: Clinical Features

Answer 20

1-2mm red papillose on oropharyngeal and nasal mucosae, blanch with diascopy.

Question 21

HHT: Sites

Answer 21

Vermilion zone, tongue, buccal mucosa.
Hands, feet.
GI, genitourinary, conjunctival mucosa.

Question 22

HHT: Complications

Answer 22

Arteriovenous fistulas of lung, liver, brain

Question 23

HHT: Diagnosis

Answer 23

3 of 4:
Epistaxis
Telangiectasias
AV malformation
Family history

Question 24

HHT: Histopathology

Answer 24

Collection of thin-walled vessels in superficial CT

Question 25

HHT: Treatment

Answer 25

Genetic counseling
None/selective cryotherapy or electrocautery/septal dermoplasty
Iron replacement
Prophylactic antibiotics if AV fistula

Question 26

HHT: Prognosis

Answer 26

Good
1-2% mortality from complications
10% mortality if develop brain abscess