Translational benefits from research on rare genodermatoses.

[kindler syndrome]

Significant new discoveries about many of the genodermatoses have been made recently through an improved knowledge of the human genome , advances in molecular screening strategies and also through more comprehensive Internet DNA databases . By 2003 , over 350 single gene skin disorders had been characterized at a molecular level . These new data provide more detailed information for patients , allow for more accurate diagnoses , and help improve genetic counselling . Other benefits include the feasibility of carrier screening and DNA-based prenatal testing , as well as a platform for devising new treatments , including somatic gene therapy . Research on rare single gene disorders also provides new insight into more common skin conditions . For example , new ideas about photosensitivity are emerging from discoveries of mutations in a novel component of the actin cytoskeleton (kindlin-1 ) in the rare inherited poikiloderma disorder , Kindler syndrome . Likewise , new clues to understanding disease pathology in lichen sclerosus have been gleaned from the discovery of pathogenic mutations in the skin protein , extracellular matrix protein 1 , in the rare sclerosing inherited skin disorder , lipoid proteinosis . Finally , new insight into what can cause exuberant granulation tissue in chronic wounds has been provided by the discovery of specific mutations in the basement membrane protein , laminin 5 , in the rare inherited condition , laryngo-onychocutaneous syndrome . It is clear that a precise research focus on the rare genodermatoses is providing practical benefits for sufferers of these disorders , as well as new lessons and ideas about more common acquired skin conditions .

Diseases
Validation

Diseases presenting "inherited skin disorder, lipoid proteinosis" symptom

kindler syndrome

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