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Kindler Syndrome
Kindler Syndrome
What is Kindler Syndrome?
Ana Paula Cantu
4th Period
Frequency in General Population
- the Office of Rare Diseases of the National Institutes of Health listed it as a "rare disease"
- less than 200,000 people in the US population are affected
("Kindler Syndrome")
Mode of Inheritance
Autosomal Recessive
- appears only in those who have two copies of an autosomal gene
- gene is on an autosome, a nonsex chromosome.
- parents have only one copy of the gene and do not exhibit the trait
Gender/Race/Ethnicity Prevalence
Genetics
- many come from consanguineousmarriages
- found in individuals with diverse geographic backgrounds
- 4 homozygous mutations in the kindlerin gene
- a mutation of only one allele
- 3/4 mutations are predicted to result in the truncation of the protein
("Kindler Syndrome")
Thank You!
(O'Neill)
Diagnosis
based on examination by biopsy on the level which blisters develop on after trauma
- pigmentation abnormalities
- blisters
- diminish with age
- vesicopustules on hands and feet
- photosensitivity
- diminishes with age
- skin fragility
(Mizutani, Masuda, Nakamura, Takenaka, Tsuruta, Katoh)
"Kindler Syndrome." : Background, Pathophysiology, Epidemiology. Web. 5 Oct. 2015. <http://emedicine.medscape.com/article/1118967-overview>.
"Kindler Syndrome." - RightDiagnosis.com. Web. 5 Oct. 2015.
Mizutani, Hiromi, Koji Masuda, Naomi Nakamura, Hideya Takenaka, Daisuke Tsuruta, and Norito Katoh. "Cutaneous and Laryngeal Squamous Cell Carcinoma in Mixed Epidermolysis Bullosa, Kindler Syndrome." Case Reports in Dermatology. S. Karger AG, n.d. Web. 06 Oct. 2015.
O'Neill, Marla J.F. "Kindler Syndrome." OMIM. N.p., n.d. Web. 5 Oct. 2015.
"The Portal for Rare Diseases and Orphan Drugs." Orphanet: Kindler Syndrome. N.p., n.d. Web. 06 Oct. 2015.
Treatments
- avoid trauma
- avoid sun
- proper wound care
- using antibiotics
Life Expectancy
Life expectancy is normal.