Final Flashcards
Group of inherited disorders in which TWO or more ectodermally derived structures do not develop normally or fail to develop is:
-Examples of ectoderm structures:
Ectodermal Dysplasia
-Skin, hair, nails, teeth, sweat glands
Hypohidrotic Ectodermal Dysplasia causes ______ due to _______
Heat intolerance
..reduced sweat glands
What causes fine, sparse blonde hair and oligodontia (less than 6 teeth)
Hypohidrotic Ectodermal Dysplasia
When is White Sponge Nevus usually noticed?
- It is due to:
- Appearance
At birth or early childhood
- Defect in the normal keratinization of the oral mucosa
- Asymptomatic, thick, white appearance of the buccal mucosa bilaterally
How do you diagnose White Sponge Nevus?
-Tx:
Exfoliative Cytology (better than biopsy) -No tx necessary
Peutz-Jeghers Syndrome..
- __% represent new mutations
- ____ gene is affected
- Frequency
- tx
- 35%
- SKT11
- 1 in 100,000-200,000
- genetic counseling
What is characterized by FRECKLE-line lesions on hands, periorifacial skin (mouth, nose, anus, genitals) AND causes GI POLYPS
Peutz-Jeghers Syndrome
In Peutz-Jeghers Syndrome (unline Gardner Syndrome), the polyps are NOT ____, but these patients have __x chance of cancer than general population
precancerous
-18x
Hereditary Hemorrhagic Telangiectasia
- What is a telangiectasia?
- frequency:
- Due to mutation in a gene that plays a role in:
- Initial clue to diagnoses
- Prognosis
- small collection of dilated capillaries
- 1 in 10,000
- blood vessel wall integrity
- frequent epistaxis (nose bleed)
- Good, but 1-2% mortality dues to blood loss (or brain abscess)
Pt has a 1-2mm red papule on vermillion border of lip that blanch with diascopy, this is:
Hereditary Hemorrhagic Telangiectasia
What can cause ArterioVenous problems
HHT (Hereditary Hemorrhagic Telangiectasia)
In Pemphigus Vulgaris, ______ destroy ____
autoantibodies…desmosomes
Pemphigus
- age
- sex
- prognosis
- 4th-6th decade
- none
- fatal if not treated
Pemphigus
- __% present with oral lesions
- Appears as:
- 50%
- Ragged erosions and ulcerations
What is the Nikolsky Sign?
-Which disease has it
- Skin rubs off easily
- Pemphigus
In pemphigus, oral lesions are “______ and _____”
“First to show and last to go”
In pempigus, direct AND indirect immunoflouresnce (IF) studies will be:
positive
Pemphigus tx:
-prognosis
SYSTEMIC corticosteriods (NOT topical) often with azathioprene -5-10% mortality
Mucous Membrane Pemphigoid is aka:
Cicatrical (“scarring”) pemphigoid
Which is 2-4x more common, pemphigus or pemphigoid
pemphigoid more common
Pemphigoid..
- age:
- sex:
- older (50-60)
- 2:1 female
Pemphigoid may affect:
- Scarring usually seen with:
- Often presents as:
- May see _______ intraorally
any mucosal surface
- conjuctival (symblepharon) lesions
- desquamative gingivitis
- intact blisters
With pemphigoid ____ scarring is rare. The most significant aspect of the disease is ____ involvement
oral
-ocular
Pemphigoid..
- What do you submit for biopsy
- In what solutions?
- DIF is usually __, IIF is usually __
- Normal mucosa, 0.5-1cm away from ulceration
- Michel’s and formalin
- DIF + , IIF -
Pemphigoid tx…
- if oral lesions only:
- if ocular involvement
- fatal?
- oral: topical steroids, tetracycline or dapsone
- ocular: immunosuppressive therapy
- rarely
Bullous pemphigoid..
- Usually affects what age?
- ____ lesions are seen primarily, rarely ____
- Initial complaint is usually _____
- Old (75-80)
- cutaneous, rarely oral
- pruritus (itching)
Erythema Multiforme is an ____, self-limiting ulcerative disorder
ACUTE