Developmental and Immune-mediated Mucocutaneous Diseases Flashcards
T/F. Ectodermal dysplasias is a group of inherited diseases in which three or more ectodermally derived structures do not develop normally or fail to develop.
False, Ectodermal dysplasias is a group of inherited diseases in which TWO or more ectodermally derived structures do not develop normally or fail to develop.
What areas are affected with ectodermal dysplasia?
skin, hair, nails, teeth, or sweat glands
In ____ E.D., there is heat intolerance due to reduced ___ glands.
hypohidrotic; sweat
What condition has patients who appear with fine, sparse blonde or light colored hair, eyebrows and eyelashes? How would you describe their teeth?
Hypohidrotic ED
oligodontia (lack of development of SIX or more teeth) with conical teeth.
How is ED managed?
- genetic counseling
2. prosthetic dental management (dentures, overdentures, fixed appliances, dental implants)
Patients misdiagnosed with ED may have what condition? If the patients mother undergoes sterilization unnecessarily, what are the odds of this problem affecting other offspring?
polygenetic oligodontia
1:100,000
White sponge nevus is an autosomal ___ condition known as “___” that is relatively ___(common/rare).
dominant; genodermatosis; rare
When is WSN first noticed?
at birth or in early childhood, sometimes noticed first in adolescence
WSN is due to a defect in the normal ___ of the oral mucosa.
keratinization
WSN is a ___ (symptomatic/asymptomatic), thick, white appearance of the ___ (buccal/lingual) mucosa ___ (unilaterally/bilaterally), but other oral sites may be affected as well.
asymptomatic; buccal; bilaterally
In addition to the buccal mucosa, what other mucosa are involved in WSN?
nasal, esophageal, larynegeal, anogenital
T/F. Biopsy is sometimes more diagnostic than an exfoliative cytology sample of WSN.
False, exfoliative cytology is more diagnostic than a biopsy.
What is seen on the biopsy sample of WSN?
parakeratosis with acanthosis (thickening of spinous layer)
What is pathognomonic or unique to WSN?
epithelial cells that often show perinuclear eosinophilic condensation of cytoplasm
T/F. WSN prognosis is poor and treatment varies depending on severity of the disease.
False, WSN prognosis is good and no treatment is necessary.
T/F. Peutz-Jeghers syndrome is relatively common and inherited as an autosomal recessive trait.
False, it is relatively RARE but well recognized condition that is usually inherited as an autosomal DOMINANT trait.
What percentage of PJS represents new mutations?
35%
In PJS, the ___ gene is affected – encodes for a ___/___ kinase.
SKT11; serine/threonine
PJS is usually noticed in ___ (childhood/adults) and characterized by ___-like lesions which develop on the hands, periorificial skin (mouth, nose, anus, genital region) and oral mucosa.
childhood; freckles
T/F. In PJS, polyps develop in the GI tract, especially in the duodenum.
False, polys usually develop in the jejunum and ileum
PJS can cause bowel obstruction due to ___ or “___” of a proximal segment into a distal segment.
intussusception; telescoping
T/F. When intussusception occurs in PJS, it may self correct but surgery is sometimes needed to prevent ischemic necrosis.
True.
T/F. Similarly to Garners syndrome, PJS polyps are also precancerous.
False, they are not precancerous.
GI polyps appear as benign hamartomatous growths of intestinal glandular epi
T/F. PJS patients have an increased susceptibility to cancer that is about 2 times greater than a control population.
False, PJS patients have an increased susceptibility to cancer that is about 18 times greater than a control population
How is PJS treated?
- genetic counseling
2. monitor for intussusception and for tumor development
Hereditary Hemorrhagic Telangiectasia is an uncommon autosomal ___ disorder that is estimated to have a frequency of about 1 in ___.
dominant; 10,000
HHT is due to a mutation in one of ___ different genes that play a role in blood vessel ___ integrity.
2; wall
Define telangiectasia.
small collection of dilated capillaries.
What is often an initial clue of HHT?
spontaneous epistaxis
What is noted on the oropharyngeal and nasal mucosae of HHT?
numerous 1-2mm red papules that blanch with diascopy
Where are HHT lesions most commonly found?
- vermilion zone of lips
- tongue
- buccal mucosa
Where is telangiectasias seen?
hands and feet, GI mucosa, GU mucosa, and conjunctival mucosa
Arteriovenous fistulas may affect the lungs (___% of patients), liver (___%), or brain (___-___%).
30; 30; 10-20
How can a diagnosis of HHT be made?
if a patient has 3 of 4 features:
- recurrent spontaneous epistaxis
- telangiectasias of mucosa and skin
- AV malformation involving the lung, liver, or brain
- family history
T/F. Histologically, a collection of thin-walled blood vessels in the superficial connective tissue is seen in HHT.
True.
In addition to genetic counseling, what treatment is given for HHT patients with mild, moderate and severe forms of the disease?
mild - no treatment
moderate - selective cryotheraphy or electrocautery of bothersome lesions
severe - septal dermoplasty to prevent epistaxis
What is sometime necessary in HHT patients with significant GI involvement and blood loss?
iron replacement or transfusion
T/F. HHT patients with AV fistula involving the brain do not need prophylactic antibiotics before dental procedures.
False, prophylactic antibiotics before dental procedures that cause bacteremia have been suggested due to the 1% prevalence of brain abscess in these patients.
T/F. HHT prognosis is generally poor with 1-2% mortality in patients who develop a brain abscess and 10% mortality in those with blood loss complications.
False, HHT prognosis is generally GOOD, with 1-2% mortality in those with BLOOD LOSS complications and 10% in those with BRAIN ABSCESS.
What is the etiology of Pemphigus Vulgaris?
autoimmune
In PV, autoantibodies destroy ___.
desmosomes, which bond epithelial cells together. Antibodies inhibit adherence and a split develops in the epithelium
T/F. PV is a rare disorder seen in males in their 20s. PV is usually fatal if not treated.
Statement 1 is false. Statement 2 is true.
1: PV is rare and has no sex predilection and is seen in individuals around 50 yo.
2: it is usually fatal if not treated due to severe infection, loss of fluids/electrolytes, and malnutrition due to mouth pain
What percentage of PV presents with mouth lesions?
greater than 50%
Patients with PV have superficial, ___ erosion and ___ found on ___ oral mucosal surface.
ragged; ulcerations; any
PV has ___ ___ on skin and intact oral blisters are ___ (commonly/rarely) seen.
flaccid bullae; rarely
What term is used when inducing a bulla by applying firm, lateral pressure to normal appearing skin?
+ Nikolsky sign
What is being referenced with the phrase “first to show last to go”?
the oral lesion seen in PV
In other words, the oral lesions are the initial manifestation of the disease and the most difficult to resolve with treatment.
What is a technique that uses fluorescent-labeled antibodies to detect specific targets?
immunofluorescence
___ immunofluorescence is used to detect autoantibodies bound to the patient’s tissues. ___ immunofluorescence is used to detect autoantibodies circulating in the blood.
Direct; Indirect
T/F. Normal tissue adjacent to ulceration or erosion should not be sampled for DIF. Both DIF and IFF immunofluorescence studies will be negative for pemphigus vulgaris
Both statements are false.
1: Normal tissue adjacent to ulceration or erosion SHOULD be sampled for DIF.
2: Both DIF and IFF immunofluorescence studies will be POSTIVE for pemphigus vulgaris
In PV, autoantibodies bind ___ components, specifically desmoglein ___ & ___.
desmosomal; 1; 3
When sampling tissue in PV, where should the sample be taken from?
the periphery not the ulcerated center.
In PV, microscopically, ___ clefting ___ (above/below) the basal layer (i.e. ___ (within/outside) the epithelium).
intraepithelial; above; within
In PV, what is the process where there is breakdown of the spinous layer and cells fall apart?
acantholysis
T/F. In PV, patients are treated with topical steroid because systemic corticosteroids have little affect.
False, they are treated with systemic corticosteroids, often with azathioprine or other steroid-sparing agents. topical steroids have little effect
What percentage of PV patients died prior to corticosteriod therapy? What is the mortality rate today?
60-90%
5-10%, usually due to complications of therapy
What is another term for Mucous Membrane Pemphigoid?
cicatricial (“scarring”) pemphigoid
How does MMP clinically resemble PV? How common is MMP to PV?
due to blister formation
At least 2x more common than PV
T/F. MMP is usually seen in females around the age of 50-60.
True
MMP can affect ___ mucosal surface (occasionally skin) but scarring is usually seen with ___ (___) and cutaneous lesions.
any; conjunctival (symblepharon)
With MMP, ___ blisters will be seen intraorally but ___ scarring is rare.
intact; oral
What is a descriptive term denoting erythema, desquamation, and ulceration appearance that can be seen in several disorders?
desquamative gingivitis
MMP often presents as ___ ___. It is not uncommon that gingival tissues are the ___ (first, last, only) affected site.
desquamative gingivitis; only
What is the most significant aspect of MMP?
ocular involvement
In MMP, ___ obstructs the orifices of glands that produce the ___ film, resulting in a dry eye. Dryness leads to ___ of the ___ epithelium, leading to blindness.
scarring; tear; keratinization; corneal
When sampling the periphery of the MMP lesion, what must it include?
a generous portion of normal mucosa, as epithelium easily strips off
In MMP, microscopic examination shows ___ cleft formation – separation of the epithelium from the connective tissue at the ___.
SUBepithelial; BMZ (basement membrane)
In MMP, submit normal mucosa, ___-___cm away from areas of ulceration/erythema. Tissue should be submitted in both ___ solution and ___ (ideally).
0.5 - 1.0 cm; Michel’s; formalin
What is seen in MMP at the BMZ (basement membrane)?
linear deposition of immunoreactants
MMP is postive for ___ (DIF/IFF) and negative for ___ (DIF/IFF) because only ___-___% of patients will have circulating autoantibodies.
DIF; IFF; 5-25%
T/F. MMP treatment depends on the extent of involvement. Oral lesions alone are treated with topical steroids, tetracycline/niacinamide or dapsone.
Both statements are true.
How often should MMP patients receive dental prophylaxis?
frequently q 3-4 mos.
In MMP, if there is ___ involvement, systemic immunosuppressive therapy is indicated.
ocular
T/F. MMP is fatal and is difficult to control. Blindness results in patients with untreated ocular disease.
The first statement is false the second is true.
1: MMP is rarely fatal and the condition can usually be controlled.
T/F. MMP undergoes spontaneous resolution.
False, it RARELY undergoes spontaneous resolution
Bullous pemphigoid usually affects ___(younger/older) populations.
older
T/F. In BP, oral involvement is primarily seen and cutaneous lesions are uncommon.
False, Cutaneous lesions are seen primarily - oral involvement seems to be uncommon (but has been reported to be from 8-39%).
With BP, ___ is common initial complaint, followed by cutaneous blisters.
pruritus
What does BP and MMP have in common?
SUBepithelial cleft
BP has a positive for which immunofluorescence test?
both DIF and IFF, with immunoreactants deposited at the BMZ
Compare the treatment of BP and MMP.
management is similar to ciicatricial pemphigoid, but most BP cases resolve spontaneously in 1-2 yrs
___ ___ has an acute onset and is a self-limiting (2-6 weeks) ulcerative disorder.
Erythema Multiforme
EM is a ___-mediated disease seen in ___ (young/old) women (in more recent studies).
immune; young (20-30)
Match the etiology of EM.
A. 25%
B. 50%
- medication-related (especially antibiotics and analgesics)
- preceding infection; viral (herpes) or bacterial (Mycoplasma pneumoniae)
- unknown
- A
- A
- B
Describe the EM - minor and major spectrum of disease.
EM-minor: skin or mucosa only
EM-major: (Stevens-Johnson syndrome) at least two mucosal sites plus skin involvement
What condition is seen with EM that has diffuse bullous involvment of skin and mucosa?
toxic epidermal necrolysis (Lyell’s disease)
Clinically, EM patients have ___ crusting of lips, widespread oral ulcers with ___ margins and “___” lesions of skin.
hemorrhagic; ragged; target
T/F. In EM, the gingiva and hard palate are common locations. The labial mucosa, buccal mucosa and tongue are usually spared.
Both statements are false. In EM, the labial mucosa, buccal mucosa and tongue are common locations. The gingiva and hard palate are usually spared.
T/F. Light microscopic features are characteristic but not diagnostic in EM.
True.
Histologically, EM has ___ destruction, ___ edema, mixed inflammatory infiltrate, and ___ inflammation.
keratinocyte; subepithelial; perivascular
T/F. In EM, there is no useful immunologic patter. DIF is only used to rule out another immunobullous process.
Both statements are true.
T/F. For mild cases of EM, supportive care and steroid syrup can help. For EM minor, corticosteroids are often given empirically because the patient will likely heal anyway.
Both statements are true
How is EM with SJS treated?
if a toxic drug is identified, D/C the drug
How is EM with TEN treated?
What should be avoided?
it is managed in the burn unit. IV pooled human immunoglobin.
Avoid corticosteroids
EM is recurrent in ___% of cases and usually in the ___ and ___ (summer/autumn/winter/spring - pick 2)
20; autumn; spring
In recurrent episodes of EM, seek to identify initiating factor - ___ or ___.
HSV (continuous retroviral therapy given); drugs
The prognosis of EM is ___ for mild to moderate cases. EM major has a __-__% mortality rate and TEN has a ___% mortality rate.
good; 2-10; 34
What is another term for erythema migrans?
benign migratory glossitis
geographic tongue
What is a common (1-3% of pop) oral condition where patients report waxing and waning of lesions that heal then develop in a different area?
erythema migrans
Erythema migrans is often seen with a ___ tongue and the lesions present on the ___ and ___ anterior 2/3s.
fissured; dorsal; lateral
What term is used with erythema migrans develops on other non-keratinized mucosal surfaces?
ectopic geographic tongue
Erythema migrans is described with multiple, well-demarcated zones of ___ surrounded at least partially by a slightly elevated yellow-white ___ or ___ border.
erythema; serpentine; scalloped
Similar to psoriasis, EMigrans biopsies are usually diagnosed as “___ ___”.
psoriasiform mucositis
EMigrans has ___ with extensive ___ formation in the superificial ___ layer that causes shearing off of the ___, with the remaining epithelium being much thinner, resulting in a ___ appearance.
parakeratosis; microabscess; spinous; parakeratin; red
T/F. EMigrans has no treatment and some patient may complain of sensitivity to hot or spicy foods.
True.
T/F. Cutanteous Lichen Planus is a chronic immune-mediated disorder that affects female adults aged 30 - 60.
True.
CLP has ___ polygonal pruritic papules with ___ ___ that affects the ___ surfaces of wrist, ___ region and ___.
purple; Wickham’s striae; flexor; lumbar; shins
What are the two forms of Oral Lichen Planus? Which is more common? Symptomatic?
- reticular lichen planus - most common
2. erosive lichen planus - most symptomatic
T/F. Reticular LP has shallow ulcers, peripheral erythema and radiating white lines. Erosive LP has interlacing white lines.
Both statements are false.
Erosive LP has shallow ulcers, peripheral erythema and radiating white lines. Reticular LP has interlacing white lines.
The dorsal tongue in Oral LP have appear as patchy ___ and ___.
keratosis; atrophy
Microscopically, oral LP has ___, alternating ___ and thickening of the ___ layer with absent or pointed ___ ___, degeneration of the ___ cell layer and a band-like infiltrate of ___.
hyperkeratosis; atrophy; spinous; rete ridges; basal; lymphocytes
T/F. Oral LP is not a clinical diagnosis therefore clinical findings should be correlated with the microscopic findings.
False, Oral LP IS a clinical diagnosis therefore clinical findings should be correlated with the microscopic findings.
What is also treated with Oral LP?
candidiasis
How is reticular LP treated?
it requires no therapy, patients often notice a “roughness” of the buccal mucosa but it does not hurt.
How is erosive LP treated?
with one of the stronger TOPICAL corticosteriods and systemic steroids are not needed
T/F. Oral LP has a high potential to become malignant and therefore its prognosis is poor.
False. Oral LP has a good prognosis and there is no molecular evidence supporting malignant potential.
___ ___ ___ is the most common of the significant immune-mediated systemic diseases.
Systemic Lupus Erythematosus
What type of patient is typically found to have SLE?
women affected 8 to 10 times more than men
women of color
31 years
Clinically how do patients with SLE present?
protean manifestations (fever, weight loss, arthritis, fatigue, general malaise)
malar “butterfly” rash that spares nasolabial folds
skin lesions flare with sun exposure
Renal involvement is seen in ___-___% of SLE patients and it can lead to kidney failure. Cardiac involvement is common, particularly ___.
40-50%; pericarditis
___% of SLE patients have sterile vegetations on heart valves (Libman-Sacks endocarditis).
50
How often and where are oral lesions found in SLE?
How are they treated?
5-25%
palate, buccal mucosa or gingiva
They usually respond to topical corticosteroids.
How is SLE diagnosed?
clinical, histopathologic, immunopathologic, and serologic findings
lichenoid pattern microscopically, perivascular inflammation
T/F. The negative lupus band test shows deposition of a band of immunoreactants at the basement membrane zone of normal skin. It is not specific to SLE.
1st statement is false, 2nd is true
1: The POSITIVE lupus band test shows deposition of a band of immunoreactants at the basement membrane zone of normal skin.
2. some Lupus patients are negative for the lupus band test
Serum studies show __-___ antibodies (ANAs) present in ___% of SLE patients. This is a ___-___ finding but can be used as a screening tool.
anti-nuclear; 95; non-specific
___% of SLE patients are specifically directed to ___-___ ___, these are more specific.
70%; double-stranded DNA
Treatment of SLE includes decreasing patients exposure to what? How is mild disease and significant cases treated?
UV light
non-steroidal anti-inflammatory or anti-malarial drugs and systemic corticosteroids (arthritis, pericarditis, nephritis, thromboyopenia)
What is the prognosis, 5 and 15 year survival rate and most common cause of death for SLE?
prognosis is variable adn worse for men
5 year - 95%
15 year - 75%
death - renal failure
What is another term for chronic cutatneous lupus?
discoid lupus
T/F. Chronic cutaneous lupus is a different disease from SLE that almost exclusively affects the skin and mucosa. It waxes and wanes adn oral lesions resemble erosive LP.
Both statements are true.
CCLupus has ___, erythematous patches on sun-exposed skin of the head and neck. Scarring and atrophy of these lesions with healing leads to a ___ problem.
scaly; cosmetic
What is characteristic of CCLupus? What is seen microscopically?
skin lesions is usually characteristic
oral lesions show lichenoid mucositis and vasculitis
T/F. Serologic studies of CCLupus are positive for anti-nuclear antibodies.
False, it is usually negative
How is CCLupus treated?
avoiding excessive UV light exposure
topical corticosteroids
systemic malarial drug or low dose thalidomide
CCLupus prognosis is ___ than SLE with approximately ___% transforming to SLE. Lesion are usually confined to skin and ___% eventually resolve after several years.
better; 5; 50
What is a relatively rare condition that is characterized by inapporpriate deposition of dense collagen that affects 20 cases/million annually?
systemic sclerosis
In SS, adult women are affected ___ times more than men.
3
What condition describes discoloration of teh fingers and/or toes after exposure to changes in temperature or emotional events?
Raynaud’s phenomonon (not specific to SS)
SS patients have ___-like deformity of fingers due to ___ deposition and ulceration of the fingertips. When the digit tips and bone can be destroyed it is called ___-___.
claw; collagen; acro-osteolysis
SS has a diffus smooth, hard texture of skin termed “___” and has also been termed “___”.
hidebound; scleroderma
T/F. In SS, pulmonary, renal, cardiac and GI fibrosis may be seen with pulmonary HTN. Heart failure is a common cause of death.
Both statements are true.
SS patients have microstomia with pinched “___-___” appearance of mouth. Dysphagia occurs with ___ involvement.
purse-string; esophageal
T/F. SS shows widened PDL and resorption of posterior ramus, condyle, coronoid process or chin in 10-20% with tooth resorption seen sometimes.
True.
Histologically shows dense ___ deposition and serologic studies show autoantibodies directed against ___ (___).
collagen; Scl-70 (topoisomerase I)
What is seen more with CREST syndrome?
anti-centromere antibodies
How is SS treated?
no good definitive treatment
supportive care includes esophageal dilation, calcium channel blockers to ease Raynaud’s syndrome, ACE inhibitors to control HTN
problems with Oral hygiene and prosthese
__-__% of SS survive ___ years after diagnosis.
30-50; 8
CREST syndrome is a milder form of SS. What does it stand for?
Calcinosis cutis Raynaud's phenomenon Esophageal dysfunction Sclerodactyly Telangiectasia
What group does CREST occur in?
women, 6th to 7th decade of life
What is the prognosis and 6 and 12 year survival rate for CREST syndrome?
better prognosis than SS
6 year - 80%
12 year - 50%
