Type I Von Recklinghausen disease
Keywords:
neurofibromatosis1, nervous tissue, neurofibromaAbstract
Two photographs are presented of a patient with neurofibromatosis type I, also known as Von Recklinghausen's disease (Fig. 1), treated by collaborators of the Cuban medical mission who worked at the Central Hospital of Nampula, Republic of Mozambique. The patient was referred to the multidisciplinary genetics clinic, where investigations were carried out that demonstrated the presence of neurofibroma-type skin nodules, and in the ocular area the Lysch nodules that are pathognomonic of this disease. Panel A shows the photograph of the thoracic region with the neurofibromas and panel B shows the aforementioned tumors in the knee and the proximal third of the left leg; as well as in the right distal third and ankle.
Neurofibromatosis is a genodermatosis with variable clinical expression. There is extensive knowledge of the pathogenesis of neurofibromatosis type 1, but not of the other clinical forms. Type 1 is an autosomal dominant disease. In this hereditary condition, tumors (neurofibromas) form of nervous tissues in the upper and lower layers of the skin, in the cranial nerves, and in the spinal cord.
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