Nevoid basal cell carcinoma syndrome

The Goltz - Gorlin syndrome, also referred to as "focal dermal hypoplasia " ( FDH ) is a rare genetic disease from the group of phakomatoses.

Of these, the Gorlin - Goltz syndrome or basal cell nevus syndrome must be distinguished, which is much more common and in which basal cell carcinomas occur frequently.

Mark

The syndrome is inherited gonosomal dominant. The few hundred world famous sufferers are almost all women, as affected male embryos die predominantly. It can be found streaky areas where the skin is not completely created, but the epidermis directly auflagert the subcutaneous fat tissue.

Therapy options

A causal therapy is not possible.

Name of the syndrome differ from country to

While the naming of U.S. physicians Gorlin is oriented in the Anglo-American world, one names in German-speaking countries, the disease often alone after the Strasbourg physiology professor Friedrich Goltz, so as Goltz syndrome. Another designation as a "focal dermal hypoplasia " ( FDH ) even comes out without honoring researchers name.

Research

Practical benefits of scientific discovery is now given the possibility of prenatal diagnosis for those who wish to do so. From the analysis of genetic malfunction conclusions regarding regulatory processes can be harnessed, which play an important role in embryonic development.

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