Chapter 16: Dermatologic Diseases I

Question 1

___ is a group of conditions in which two or more ectodermal derived anatomic structures fail to develop; what are the structures?

Answer 1

• ectodermal dysplasia
• skin, hair, nails, teeth, sweat glands

Question 2

there are over ___ types of ectodermal dysplasia

Answer 2

170

Question 3

what is the best known type of ectodermal dysplasia?

Answer 3

hypohidrotic ectodermal dysplasia

Question 4

describe hypohidrotic ectodermal dysplasia

Answer 4

• X-linked; male predominance
• heat intolerance
• fine, sparse hair
• periocular wrinkling with hyperpigmentation
• dystrophic or brittle nails
• hypoplastic or absent salivary glands
• teeth are markedly reduced in number and have abnormal crown shapes

Question 5

what is the treatment for hypohidrotic ectodermal dysplasia?

Answer 5

treatment includes genetic counseling and various dental prosthetics

Question 6

Answer 6

hypohidrotic ectodermal dysplasia

Question 7

___ is a rare genodermatosis/genokeratosis (a genetically determined skin disorder) that is inherited as an autosomal dominant

Answer 7

white sponge nevus

Question 8

white sponge nevus is caused by a defect in ___

Answer 8

keratins 4 and 13

Question 9

when do white sponge nevus lesions appear?

Answer 9

at birth or early childhood

Question 10

describe the clinical presentation of white sponge nevus lesions

Answer 10

• symmetrical, thickened, white, corrugated, diffuse plaques on the bilateral buccal mucosa
• may also occur in other parts of the oral cavity

Question 11

is white sponge nevus symptomatic or asymptomatic?

Answer 11

asymptomatic

Question 12

what is the treatment for white sponge nevus?

Answer 12

it is a benign condition that does not require treatment

Question 13

Answer 13

white sponge nevus

Question 14

___ is a rare but well-recognized autosomal dominant condition characterized by freckle-like pesions of the hands, perioral skin, and oral mucosa, and intestinal polyposis?

Answer 14

peutz-jeghers syndrome

Question 15

patients with peutz-jeghers syndrome have a predisposition to develop ___

Answer 15

cancer

Question 16

describe the skin lesions associated with peutz-jeghers syndrome

Answer 16

• develop in childhood and involve periorificial areas
• resemble freckles, but do not wax and wane with sun exposure

Question 17

describe the intestinal polyps associated with peutz-jeghers syndrome

Answer 17

• hamartomatous growths
• not premalignant
• scattered throughout the mucous-producing areas of the GI tract

Question 18

patients with peutz-jeghers syndrome also have a problem with intestinal obstruction due to ___

Answer 18

intussusception

“telescoping” of a proximal segment of the bowel into the distal portion

Question 19

patients with peutz-jeghers syndrome are ___ times more likely to develop a malignancy in their lifetime; describe the malignancies

Answer 19

• 18x
• GI adenocarcinoma also develops (but not from the polyps)
• other tumors such as breast cancer

Question 20

describe the peutz-jeghers syndrome oral lesions

Answer 20

• an extension of the perioral freckling
• 1-4mm brown macules
• primarily affect the labial mucosa, buccal mucosa, and tongue
• seen in 90%

Question 21

what is the treatment of peutz-jeghers syndrome?

Answer 21

monitoring for development of intussusception or tumors

Question 22

Answer 22

peutz-jeghers syndrome

Question 23

tuberous sclerosis is a system complex characterized by what 7 things?

Answer 23

• CNS manifestations
• mental retardation
• seizure disorders
• potato-like growths (“tubers”)
• angiofibromas of the skin
• ungual (or periungual) fibromas
• characterstic skin lesions
  
  • shagreen patches
  • ash-leaf spots

Question 24

describe the facial angiofibromas associated with tuberous sclerosis

Answer 24

multiple, smooth-surfaced papules occurring primarily on the nasolabial fold area

Question 25

describe the ungual fibromas associated with tuberous sclerosis

Answer 25

* similar to angiofibromas clinically * seen around or under the margins of the nails

Question 26

describe the shagreen patches associated with tuberous sclerosis

Answer 26

* connective tissue hamartomas

Question 27

describe the ash-leaf spots associated with tuberous sclerosis

Answer 27

ovoid areas of hypopigmentation

Question 28

what is the name for the rare tumor of the heart muscle that is associated with tuberous sclerosis?

Answer 28

cardiac rhabdomyoma

Question 29

where are the angiomyolipomas found that are characteristic of tuberous sclerosis?

Answer 29

on the kidney

Question 30

what are the oral manifestations of tuberous sclerosis?

Answer 30

* developmental enamel pitting on the facial aspect of the anterior permanent teeth * multiple fibrous papules

Question 31

what is the treatment for tuberous sclerosis?

Answer 31

it is directed toward management of the seizure disorder and periodic imaging studies

Question 32

describe the lifespan of patients with tuberous sclerosis

Answer 32

they have a reduced lifespan - death is usually via CNS or kidney disease

Question 33

Answer 33

tuberous sclerosis

Question 34

\_\_\_ is a group of inherited blistering mucocutaneous disorders

Answer 34

epidermolysis bullosa

Question 35

what are the four types of epidermolysis bullosa?

Answer 35

* simplex * junctional * dystrophic * hemidesmosomal

Question 36

which type of epidermolysis bullosa is characterized by blistering of hands and feet, mucosal involvement is uncommon, no scarring, and has a good prognosis?

Answer 36

epidermolysis bullosa simplex

Question 37

which type of epidermolysis bullosa is characterized by severe blistering at birth, granulation tissue around the mouth, oral lesions ar common, and is often fatal?

Answer 37

junctional epidermolysis bullosa

Question 38

which type of epidermolysis bullosa can be dominant or recessive?

Answer 38

dystrophic epidermolysis bullosa

Question 39

which type of dystrophic epidermolysis bullosa is characterized by blisters on areas exposed to chronic trauma (knuckles, knees), scarring occurs, mild oral manifestations, and is usually not life threatening?

Answer 39

dominant

Question 40

which type of dystrophic epidermolysis bullosa is characterized by blisters with minor trauma (like eating), secondary infections occur because of the large surface area involved, is severely debilitating, and if patients survive into teenage years, their hands will be scarred into "mittens"?

Answer 40

recessive

Question 41

what is the treatment for epidermolysis bullosa?

Answer 41

varies with type * none is needed for mild cases * sterile drainage of large blisters and topical ABX are used for more severe cases

Question 42

what is the prognosis for patients with severe forms of epidermolysis bullosa?

Answer 42

usually succomb to the disease before adulthood

Question 43

Answer 43

epidermolysis bullosa

Question 44

what 4 disorders fall under the term "pemphibus"? which is the most common?

Answer 44

* pemphigus vulgaris - most common, affects oral mucosa * pemphigus vegetans * pemphigus erythematosus * pemphigus foliaceus

Question 45

what lesions associated with pemphigus vulgaris are the first sign of the disease and the last to resolve with therapy?

Answer 45

oral lesions "first to show, last to go"

Question 46

describe the intraepthelial split associated with pemphigus vulgaris

Answer 46

autoantibodies are directed against the desmosomes, which bond epithelial cells to each other, causing a split within the epithelium (intraepithelial split)

Question 47

initial manifestations of pemphigus vulgaris affect the ___ in adults, around age \_\_\_

Answer 47

* oral mucosa * 50

Question 48

what is the gender predilection of pemphigus vulgaris?

Answer 48

M=F

Question 49

patients with pemphigus vulgaris will complain of ___ and will exhibit multiple ___ throughout on intraoral examination

Answer 49

* oral pain * erosions

Question 50

patients with pemphigus vulgaris rarely report ___ or ___ formation intraorally; what is this likely due to?

Answer 50

* vesicle or bulla * likely due to early rupture because of the thin roof of the blisters

Question 51

describe the skin lesions associated with pemphigus vulgaris

Answer 51

flaccid vesicles and bullae that rupture quickly and leave an ulceration

Question 52

without treatment of pemphigus vulgaris, the oral and cutaneous lesions are \_\_\_

Answer 52

progressive

Question 53

a characteristic feature of pemphigus vulgaris is a positive \_\_\_

Answer 53

nikolsky sign

Question 54

describe the nikolsky sign associated with pemphigus vulgaris

Answer 54

bulla that can be induced on normal appearing skin if firm lateral pressure is exerted

Question 55

what are the histopathological features of pemphigus vulgaris?

Answer 55

* cells of the epithelium "fall apart" - termed **acantholysis** * the loose cells are rounded and termed **tzanck cells**, which can be useful in diagnosis * tzanck cells aren't exclusive to pemphigus vulgaris; they are also a histopathologic feature of herpes

Question 56

pemphigus vulgaris direct immunofluorescence is positive for \_\_\_ indirect immunofluorescence correlates with \_\_\_

Answer 56

* direct - positive for C3 and IgG within the epithelium * indirect correlates with disease activity

Question 57

before the development of \_\_\_, 90% of patients with pemphigus vulgaris died due to infection and electrolyte imbalances

Answer 57

corticosteroids

Question 58

what is the treatment for pemphigus vulgaris?

Answer 58

* send to a dermatologist who administers systemic corticosteroids * often in combination with other immunosuppressive drugs

Question 59

describe the prognosis of people with pemphigus vulgaris who are receiving treatment

Answer 59

* 75% will have disease resolution in 10 years * 15% will remain on steroids throughout life * 10% will succomb to disease, usually due to complications of long-term steroid use

Question 60

Answer 60

pemphigus vulgaris