AI Article Synopsis
- - Kindler syndrome is a rare genetic disorder characterized by fragile skin and mucous membrane issues, often leading to blistering and photosensitivity.
- - The condition is linked to a specific genetic defect located on the short arm of chromosome 20.
- - A case study highlights a 16-year-old patient exhibiting classic symptoms, including blistering during childhood and the later appearance of poikiloderma.
Article Abstract
Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067787 | PMC |
| http://dx.doi.org/10.4103/0976-237X.132342 | DOI Listing |
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