Poikiloderma of Kindler
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Poikiloderma of Kindler is a rare genetic disorder that affects the skin. This condition is characterized by skin blistering, increased sensitivity to light (photosensitivity), patchy discoloration of the the skin, and widespread skin deterioration (diffuse cutaneous atrophy). People with poikiloderma of Kindler have a combination of features of inherited blistering skin disorders (eg, dystrophic epidermolysis bullosa) and congenital poikilodermas (eg, Rothmund-Thompson syndrome). This condition is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner.[1][2]
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- More Detailed Information (Found: 4 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
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eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Poikiloderma of Kindler. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Poikiloderma of Kindler. Click on the link to view a sample search on this topic.
- Support Groups (Found: 4 Resources)
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 1 Resource)
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Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
- Services (Found: 2 Resources)
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.