Developmental Mucocutaneous Disease Flashcards
Ectodermal dysplasia, White sponge Nevus, Peutz-Jeghers Syndrome, and Hereditary hemorrhagic telangiectasia are all _____ mucocutaneous diseases.
Developmental
______ is a group or inherited disorders in which ____ or more ectodermally derived structures do not develop normally or fail to develop.
Ectodermal Dysplasia
TWO
Name examples of ectodermally derived structures.
skin hair nails teeth sweat glands
True or False: There are several patterns of inheritance for ectodermal dysplasia.
True, depends on the type (over 170 subtypes)
What is a common form of ectodermal dysplasia?
What other condition could be mistakenly diagnosed as Ectodermal Dysplasia?
Hypohidrotic Ectodermal Dysplasia
–polygenetic oligodontia–
True or False: Hypohidrotic ED patients frequently have cold intolerance.
False, heat intolerance due to reduced sweat glands
Describe a typical Hypohidrotic ED patient’s hair.
fine
sparse
blonde or light colored
thin eyebrows/eyelashes
What is the typical oral presenation of ED patients?
lack of development of 6 or more teeth (oligodontia)
conical teeth
How is ED “managed”?
Genetic counseling
prosthetic management: dentures, overdentures, fixed appliances, dental implants`
White Sponge Nevus is an autosomal ________ condition.
dominant (relatively rare)- genodermatosis
What causes white sponge nevus? When is it first noticed?
a defect in the normal keratinization of the oral mucosa
first noticed at birth or early childhood, sometimes adolescence
What is the clinical presentation of White Sponge Nevus?
asymptomatic, thick, white appearance of the buccal mucosa bilaterally
other oral sites, nasal, esophageal, laryngeal, or anogenital mucosa may be involved also
looks very similar to morsicatio buccarum
What are the histopathologic features of White Sponge Nevus?
- parakeratosis with acanthosis (thickening of the spinous layer)
- epithelial cells often show perinuclear eosinophilic condensation of cytoplasm (pathognomonic)
_______ cytology is more diagnostic than a biopsy sample when determining white sponge nevus.
exfoliative
What is the pathognomonic histo feature of white sponge nevus?
perinuclear eosinophilic condensation of cytoplasm
How is White Sponge Nevus treated?
treatment is not necessary
- reassure the patient that it is harmless
- good prognosis
Peutz-Jeghers Syndrome is an autosomal ______ condition that affects the ______ gene.
dominant (rare condition)
SKT11
PJ is a skater (SKT) boy (11)
What does the SKT11 gene encode for?
serine/threonine kinase
S = serine
K = kinase
T = threonine
What percentage of PJ Syndrome is due to a new mutation?
35%
What is the clinical presentation of Peutz-Jeghers Syndrome?
- usually recognized in childhood as freckle-like lesions which develop on the hands, periorificial skin, and oral mucosa
- also, polyps develop in the GI tract (jejunum and ileum in particular)
What is “periorificial” skin?
mouth
nose
anus
genital
True or False: Peutz-Jeghers syndrome can cause bowel obstruction.
True
How does Peutz-Jeghers cause bowel obstruction? Is surgery needed?
intussusception (“telescoping” of a proximal segment into a distal segment)
-may self correct but surgery is warranted to prevent ischemic necrosis
True or False: Like Gardner Syndrome, polyps associated with Peutz-Jeghers are precancerous.
False,
PJ polyps = not precancerous
(benign hamartomatous growths of intestinal glandular epithelium)
Do Peutz-Jeghers Syndrome patients have an increased susceptibility to cancer?
yes, about 18 times greater than a control population
GI, pancreas, breast, ovary, genital tract
What is the treatment for Peutz-Jeghers Syndrome?
- genetic counseling
- monitoring for intussusception or tumor development
Hereditary Hemorrhagic Telangiectasia is an autosomal ______ disorder. What is the frequency?
dominant
1 in 10,000
HHT is due to a mutation of one of ____ different genes, each of which play a role in ___ _____ ____ integrity and share similar clinical features.
two
blood vessel wall
What is telangiectasia?
small collection of dilated capillaries
What is the initial “clue” in diagnosing HHT?
frequent spontaneous epistaxis (nose bleeds)
Where are HHT lesions most commonly found?
on vermilion zone of lips, tongue, and buccal mucosa
What is the clinical appearance of HHT lesions?
numerous 1-2mm red papules on oropharyngeal/nasal mucosa that blanch with diascopy
True or False: HHT telangiectasias may be seen on the hands, feet and conjunctiva.
True
What percentage of patients with HHT have arteriovenous fistulas that affect the lungs? liver? brain?
30% lungs
30% liver
10-20% brain
How many features are evaluated when diagnosing HHT? How many of those must the patient have?
4 features
-must have 3 of 4 for HHT diagnosis
What are the four HHT features?
- recurrent/spontaneous epistaxis
- telangiectasias of mucosa and skin
- AV malformation involving the lung, liver, or brain
- family history of HHT
Histopathologically, HHT patients have a collection of ___ ____ blood vessels in the _____ connective tissue.
thin-walled
superficial
What is the treatment for HHT?
- genetic counseling
- mild HHT = no treatment
- moderate HHT = selective cryotherapy or electrocautery of bothersome lesions
- severe HHT = septal dermoplasty to prevent epistaxis
If an HHT patient has significant GI involvement and blood loss, what is the necessary treatment?
- iron replacement
- transfusion (if necessary)
True or False: Antibiotic prophylaxis prior to dental treatment is suggested for all HHT patients.
False
True or False: Antibiotic prophylaxis prior to dental treatment is suggested for HHT patients with an AV fistula involving the brain.
True
dental procedures that cause bacteremia
1% prevalence of brain abscess in these HHT patients
What is the prognosis of HHT?
generally good
1-2% morality is sometimes noted due to complications with blood loss
If a brain abscess develops, what is the anticipated mortality rate?
10%
despite early diagnosis and appropriate treatment
