Chapter 16 - Part 1 Flashcards
What term describes a group of inherited conditions in which two or more ectodermal derived anatomic structures fail to develop?
Ectodermal dysplasia
What are the ectodermal structures that fail to develop in ectodermal dysplasia?
Skin, hair, nails, teeth, sweat glands
How many types of ectodermal dysplasia are there and what is the best known type?
Over 170 types, and the best known is hypohidrotic ectodermal dysplasia
What are the characteristics of hypohidrotic ectodermal dysplasia?
X linked, heat intolerance, fine sparse hair, periocular wrinkling with hyperpigmentation, dystrophic or britrle nails, hypoplastic or absent salivary glands, reduced number of teeth and have abnormal crowns
What is the treatment for hypohidrotic ectodermal dysplasia?
Tx includes genetic counseling and various dental prosthetics
What term describes a benign, genodermatosis that is symmetrical, thickened, white, corrugated, asymptomatic, diffuse plaques on the bilateral buccal mucosa?
White sponge nevus
What is the genetic component of white sponge nevus?
Autosomal dominant, that causes defects in keratins 4 and 13
When do white sponge nevus lesions first appear?
At birth or early childhood
What is the treatment for white sponge nevus?
It is a benign condition so no treatment is required
What are the characteristics of Peutz-Jeghers synrome?
Freckle like lesion of the hands, perioral skin, and oral mucosa; intestinal polyps and obstruction
What is significant for patients with Peutz-Jegher’s syndrome?
Patients are 18x more likely to have a malignancy in their lifetime, but not from the intestinal polyps!! (GI adenocarcinoma, breat cancer)
Is Peutz-Jegher’s syndrome autosomal dominant or recessive?
It is autosomal dominant, but is a rare condition
When do skin lesions develop in Peutz-Jeghers syndrome? and what do they resemble?
Lesions develop during childhood and resemble freckles, but do not wax or wane with sun exposure
What is significant about the intestinal polyps in Peutz-Jeghers syndrome?
Intestinal polyps are hamartomatous growths, and are not premalignant
Why do patients with Peutz-Jegher’s syndrome have a problem with intestinal obstruction?
Due to intussusception = “telescoping” of a proximal segment of the bowel into the distal portion
What do oral lesions look like in Peutz-Jegher’s syndrome?
Oral lesions are an extension of the perioral freckling so the are 1-4 mm brown macules and primarily affect the labial/buccal mucosa and the tongue
What is Tuberous Sclerosis characterized by?
CNS manifestations, mental retardation, seizure disorders, potato like growths, angiofibromas of the skin, ungual fibromas, Shagreen patches and Ash leaf spots, cardiac rhabdomyoma, renal angiomyolipomas
Where do ungual fibromas occur?
Seen around or under the margins of the nails
What is a Shagreen patch?
A connective tissue hamartomas
What is an ash leaf spot?
An ovoid area of hypopigmentation (*reverse of cafe au lait)
What are the dental considerations of Tuberous Sclerosis?
Developmental enamel pitting on the facial aspect of the anterior permanent teeth, and multiple fibrous papules
What is the treatment and prognosis of tuberous sclerosis?
Treatment is directed to management of the seizures (which can lead to drug induced gingival hyperplasia), and patients have a reduced life span due to CNS or kidney disease
What term describes a group of inherited blistering mucocutaneous disorders?
Epidermolysis Bullosa
What are the 4 types of epidermolysis bullosa?
Simplex, Junctional, Dystrophic, Hemidesmosomal
What is simplex epidermolysis bullosa?
Blistering of the hands and feet, mucosal involvement is uncommon, no scarring and good prognsosi
What is junctional epidermolysis bullosa?
Severe blistering at birth, granulation tissue around the mouth, oral lesions are common, often fatal
What is dystrophic epidemolysis bullosa?
Dominant forms are usually not life threatening and blistering with scarring occurs on areas exposed to chronic trauma (knuckles, knees).
Recessive form is severely debilitating , where blisters occur with minor trauma (eating), then secondary infections occur, die before adulthood
What term describes an autoimmune disease where antibodies are directed against desmosomes? What kind of epithelial split would this cause?
Pemphigus –> intraepithelial split
What is the most common pemphigus disorder and what does it affect?
Pemphigus vulgaris, which affects the oral mucosa
What is the first sign of pemphigus vulgaris and the last to resolve with therapy?
“first to show, last to go” –> oral lesions!!
In what age population does pemphigus vulgaris most commonly occur?
Average age is 50,