Cutaneous diseases related do DNA repair disorders

Thematic group

Chair of the thematic group

Fanny Morice-Picard (Centre Hospitalier Universitaire Bordeaux )

Chair of the thematic group

Mark Berneburg (Universitätsklinikum Regensburg)

Focus of the group

DNA repair Disorders appear when mechanisms responsible for DNA repair are defective. If the genome is not effectively protected, genetic instability arises and diseases appear. There is a large variety of symptoms related to these conditions, however common clinical features may be detected such as growth retardation, neurological disorders, skin alterations and accelerated aging.

Besides, among the genetic disorders of the skin treated by the thematic group on Cutaneous diseases related to DNA Repair Disorders, many (Xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, etc.) entail hypersensitivity to ultraviolet (UV) light. They are caused by the inability of cells to remove damage caused by sunlight to DNA.  They all result from an inability to handle damage generated in cellular DNA by UV light from the sun. As a consequence, patients with any one of these disorders share hypersensitivity to sunlight which considerably affects their quality of life.

The particularity of these conditions requires clinical expertise and access to molecular diagnoses, photoprotective devices, microscope and polarised light (for hair diagnoses) or rooms with no UV light. The ERN Skin enables the sharing of these specific resources in Europe in order to improve the life of its patients and facilitate diagnoses. It also makes multidisciplinary management of the patients possible for, in addition to dermatologists, psychologists, nurses, pathologists or dieteticians, the intervention of ophtalmologists but also radiologists, surgeons, geneticists and paeditricians are necessary to offer a comprehensive care of the patients.

Related conditions

Participating Reference Centres