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?
At birth or early childhood
How do you diagnose White Sponge Nevus?
-Tx:
Exfoliative Cytology (better than biopsy) -No tx necessary
Peutz-Jeghers Syndrome..
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
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
Pemphigus
- Ragged erosions and ulcerations
What is the Nikolsky Sign?
-Which disease has it
- 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..
- 2:1 female
Pemphigoid may affect:
any mucosal surface
With pemphigoid ____ scarring is rare. The most significant aspect of the disease is ____ involvement
oral
-ocular
Pemphigoid..