Abstract

Course of neurofibromatosis type 1 diagnosed in adult woman

Highlights

  • Phacomatoses or neuroectomesodermal dysplasias are developmental changes within tissues that occur as a result of a genetic mutation which leads to growth and cellular differentiation disorders during the period of blastodermic layers and primordia development during the first three to four weeks of intrauterine life

  • Neurofibromatosis type 1, known as von Recklinghausen’s disease, is the most common of phacomatoses, occurring in 1 in 2,500 to 4,000 individuals in general population. It is inherited as an autosomal dominant trait and causesd by a loss of function mutation of the NF1 gene, localized on the long strand of chromosome 17 (17q11.2)

  • Diagnosis is usually made in early childhood on the basis of characteristic clinical picture

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Summary

Introduction

Phacomatoses or neuroectomesodermal dysplasias are developmental changes within tissues that occur as a result of a genetic mutation which leads to growth and cellular differentiation disorders during the period of blastodermic layers and primordia development during the first three to four weeks of intrauterine life. Neurofibromatosis type 1, known as von Recklinghausen’s disease, is the most common of phacomatoses, occurring in 1 in 2,500 to 4,000 individuals in general population. It is inherited as an autosomal dominant trait and causesd by a loss of function mutation of the NF1 gene, localized on the long strand of chromosome 17 (17q11.2). Diagnosis is usually made in early childhood on the basis of characteristic clinical picture. The disease stays clinically silent until the adulthood, when it might become diagnostically challenging

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