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Recklinghausen’s disease

Recklinghausen's disease

Recklinghausen’s disease is a disease characterized by skin neurofibromatosis nodes, pigmentation disorders and neurofibromas with different localization. This is a relatively common inherited disease that affects 1 in 3500-4000 people. Described for the first time by Friedrich Recklinghausen, professor of Kenisbarg.

Neurofibromatosis is the result of a genetic defect localized in the 17th chromosome. It is inherited in an autosomal dominant way, which means that the risk parent – winner of mutation to transmit the disease in the offspring is 50%. In most cases, however, it is a newly mutations. Not yet clarified the exact causes of the disease. Gene itself is connected to control intracellular signaling.

Both sexes are affected by the disease of Recklinghausen. Most often the disease debut in childhood with diverse clinical course and progression.

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