"Transforming the Beast to A Beauty"- Fifteen Years into the Making - Case Report of Congenital Neurofibromatosis

Open Access Maced J Med Sci. 2019 Jan 31;7(3):388-391. doi: 10.3889/oamjms.2019.126. eCollection 2019 Feb 15.

Abstract

Background: In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis "von Recklinghausen disease". In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing.

Case report: We are presenting the results from multiple surgical esthetic and reconstructive surgical procedures performed on a female patient with severe congenital neurofibromatosis during 15 years (2000-2015). The external appearance of our patient was not reflected in the general public's beauty standards. Convinced that she was unusual and unaccepted by the society, she gathered all of the strength and became our patient at 15 years of age.

Conclusion: Transforming the patient's life in the next fifteen years improved her overall health and her life quality.

Keywords: Madelung’s disease; Neurofibromatosis; Recklinghausen.

Publication types

  • Case Reports