Chapter 16: Dermatologic Diseases I Flashcards
___ is a group of conditions in which two or more ectodermal derived anatomic structures fail to develop; what are the structures?
- ectodermal dysplasia
- skin, hair, nails, teeth, sweat glands
there are over ___ types of ectodermal dysplasia
170
what is the best known type of ectodermal dysplasia?
hypohidrotic ectodermal dysplasia
describe hypohidrotic ectodermal dysplasia
- 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
what is the treatment for hypohidrotic ectodermal dysplasia?
treatment includes genetic counseling and various dental prosthetics
hypohidrotic ectodermal dysplasia
___ is a rare genodermatosis/genokeratosis (a genetically determined skin disorder) that is inherited as an autosomal dominant
white sponge nevus
white sponge nevus is caused by a defect in ___
keratins 4 and 13
when do white sponge nevus lesions appear?
at birth or early childhood
describe the clinical presentation of white sponge nevus lesions
- symmetrical, thickened, white, corrugated, diffuse plaques on the bilateral buccal mucosa
- may also occur in other parts of the oral cavity
is white sponge nevus symptomatic or asymptomatic?
asymptomatic
what is the treatment for white sponge nevus?
it is a benign condition that does not require treatment
white sponge nevus
___ 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?
peutz-jeghers syndrome
patients with peutz-jeghers syndrome have a predisposition to develop ___
cancer
describe the skin lesions associated with peutz-jeghers syndrome
- develop in childhood and involve periorificial areas
- resemble freckles, but do not wax and wane with sun exposure
describe the intestinal polyps associated with peutz-jeghers syndrome
- hamartomatous growths
- not premalignant
- scattered throughout the mucous-producing areas of the GI tract
patients with peutz-jeghers syndrome also have a problem with intestinal obstruction due to ___
intussusception
“telescoping” of a proximal segment of the bowel into the distal portion
patients with peutz-jeghers syndrome are ___ times more likely to develop a malignancy in their lifetime; describe the malignancies
- 18x
- GI adenocarcinoma also develops (but not from the polyps)
- other tumors such as breast cancer
describe the peutz-jeghers syndrome oral lesions
- an extension of the perioral freckling
- 1-4mm brown macules
- primarily affect the labial mucosa, buccal mucosa, and tongue
- seen in 90%
what is the treatment of peutz-jeghers syndrome?
monitoring for development of intussusception or tumors
peutz-jeghers syndrome
tuberous sclerosis is a system complex characterized by what 7 things?
- 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
describe the facial angiofibromas associated with tuberous sclerosis
multiple, smooth-surfaced papules occurring primarily on the nasolabial fold area
describe the ungual fibromas associated with tuberous sclerosis
- similar to angiofibromas clinically
- seen around or under the margins of the nails
describe the shagreen patches associated with tuberous sclerosis
- connective tissue hamartomas
describe the ash-leaf spots associated with tuberous sclerosis
ovoid areas of hypopigmentation
what is the name for the rare tumor of the heart muscle that is associated with tuberous sclerosis?
cardiac rhabdomyoma
where are the angiomyolipomas found that are characteristic of tuberous sclerosis?
on the kidney
what are the oral manifestations of tuberous sclerosis?
- developmental enamel pitting on the facial aspect of the anterior permanent teeth
- multiple fibrous papules
what is the treatment for tuberous sclerosis?
it is directed toward management of the seizure disorder and periodic imaging studies
describe the lifespan of patients with tuberous sclerosis
they have a reduced lifespan - death is usually via CNS or kidney disease
tuberous sclerosis
___ is a group of inherited blistering mucocutaneous disorders
epidermolysis bullosa
what are the four types of epidermolysis bullosa?
- simplex
- junctional
- dystrophic
- hemidesmosomal
which type of epidermolysis bullosa is characterized by blistering of hands and feet, mucosal involvement is uncommon, no scarring, and has a good prognosis?
epidermolysis bullosa simplex
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?
junctional epidermolysis bullosa
which type of epidermolysis bullosa can be dominant or recessive?
dystrophic epidermolysis bullosa
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?
dominant
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”?
recessive
what is the treatment for epidermolysis bullosa?
varies with type
- none is needed for mild cases
- sterile drainage of large blisters and topical ABX are used for more severe cases
what is the prognosis for patients with severe forms of epidermolysis bullosa?
usually succomb to the disease before adulthood
epidermolysis bullosa
what 4 disorders fall under the term “pemphibus”? which is the most common?
- pemphigus vulgaris - most common, affects oral mucosa
- pemphigus vegetans
- pemphigus erythematosus
- pemphigus foliaceus
what lesions associated with pemphigus vulgaris are the first sign of the disease and the last to resolve with therapy?
oral lesions
“first to show, last to go”
describe the intraepthelial split associated with pemphigus vulgaris
autoantibodies are directed against the desmosomes, which bond epithelial cells to each other, causing a split within the epithelium (intraepithelial split)
initial manifestations of pemphigus vulgaris affect the ___ in adults, around age ___
- oral mucosa
- 50
what is the gender predilection of pemphigus vulgaris?
M=F
patients with pemphigus vulgaris will complain of ___ and will exhibit multiple ___ throughout on intraoral examination
- oral pain
- erosions
patients with pemphigus vulgaris rarely report ___ or ___ formation intraorally; what is this likely due to?
- vesicle or bulla
- likely due to early rupture because of the thin roof of the blisters
describe the skin lesions associated with pemphigus vulgaris
flaccid vesicles and bullae that rupture quickly and leave an ulceration
without treatment of pemphigus vulgaris, the oral and cutaneous lesions are ___
progressive
a characteristic feature of pemphigus vulgaris is a positive ___
nikolsky sign
describe the nikolsky sign associated with pemphigus vulgaris
bulla that can be induced on normal appearing skin if firm lateral pressure is exerted
what are the histopathological features of pemphigus vulgaris?
- 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
pemphigus vulgaris
direct immunofluorescence is positive for ___
indirect immunofluorescence correlates with ___
- direct - positive for C3 and IgG within the epithelium
- indirect correlates with disease activity
before the development of ___, 90% of patients with pemphigus vulgaris died due to infection and electrolyte imbalances
corticosteroids
what is the treatment for pemphigus vulgaris?
- send to a dermatologist who administers systemic corticosteroids
- often in combination with other immunosuppressive drugs
describe the prognosis of people with pemphigus vulgaris who are receiving treatment
- 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
pemphigus vulgaris
