Lamellar Ichtyosis
Published on Nov 19, 2015
No Description
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PRESENTATION OUTLINE
LAMELLAR ICHTYOSIS
OTHER NAMES
- LI
- Collodion Baby
CAUSE
- Mutationn in the TGM1
- Mutation in at least 3 genes
CHROMOSOME
THERE IS NO IDENTIFYED CHOROMOSOME THAT CAUSES THE DISORDER
PRENATAL TESTS
- Direct mutational analysis of the keratinocyte transglutaminase gene
SYMPTOMS
- Large, dark, plate like scales
- Scaling all over body, but usually milder on face
- Appears very early in life
- Lasts for the victim's entire life
POPULATION AFFECTED
1/200,000 - 1/300,000
INHERITANCE
BOTH PARENTS MUST BE A CARRIER
TREATMENT
- Moisturisers
- Prevention of Overheating
- Constriction Band
- Specific Creams
- Drugs by Mouth
TREATMENT 2
- Hand Splinting
- Psychological Support/Counselling
TREATMENTS/CURES
THERE ARE TREATMENTS, BUT NO CURES CURRENTLY AVAILABLE.
DISORDER PREVENTION
IF BOTH PARENTS ARE CARRIERS, THEY SHOULDN'T HAVE A KID
CHILDREN
YES
IS THERE RESEARCH
A LITTLE?
