<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Neurofibromatosis type I is an autosomal dominant genetic disorder with an incidence of about 1 in 3000 births. Apart from the typical skin involvement NF1 may affect multiple organs with ocular, neurological, skeletal and cardiovascular manifestations. We present a case of a 38-year-old man with multiple café-au-lait macules and hundreds of neurofibromas disseminated on the trunk and extremities dating from childhood. To establish the diagnosis and to exclude any complications we performed multiple examinations, including skin biopsy, laboratory investigations, ophthalmologic assessment, consultations with a neurologist, internist and orthopedist, etc. The treatment of cutaneous NF1 is mainly symptomatic. Surgical excision aims to achieve cosmetic results. Recently novel and perspective conservative therapies have been investigated. In order to ensure better outcome for the patients with NF1 long-term multi-disciplinary approach is advised.</p></abstract>

Neurofibromatosis type I is an autosomal dominant genetic disorder with an incidence of about 1 in 3000 births. Apart from the typical skin involvement NF1 may affect multiple organs with ocular, neurological, skeletal and cardiovascular manifestations. We present a case of a 38-year-old man with multiple café-au-lait macules and hundreds of neurofibromas disseminated on the trunk and extremities dating from childhood. To establish the diagnosis and to exclude any complications we performed multiple examinations, including skin biopsy, laboratory investigations, ophthalmologic assessment, consultations with a neurologist, internist and orthopedist, etc. The treatment of cutaneous NF1 is mainly symptomatic. Surgical excision aims to achieve cosmetic results. Recently novel and perspective conservative therapies have been investigated. In order to ensure better outcome for the patients with NF1 long-term multi-disciplinary approach is advised.

Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

Department of Dermatology and Venereology

Acta Medica Bulgarica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Neurofibromatosis type I is an autosomal dominant genetic disorder with an incidence of about 1 in 3000 births. Apart from the typical skin involvement NF1 may...

Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

Publié en ligne: 27 juil. 2020

Pages: 43 - 46

Reçu: 01 août 2019

Accepté: 01 août 2019

DOI: https://doi.org/10.2478/amb-2020-0023

Mots clés
neurofibromatosis type I, cutaneous manifestations, treatment modalities

© 2020 J. Pozharashka et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

Publié en ligne: 27 juil. 2020

Pages: 43 - 46

Reçu: 01 août 2019

Accepté: 01 août 2019

DOI: https://doi.org/10.2478/amb-2020-0023

Mots clésneurofibromatosis type I, cutaneous manifestations, treatment modalities

© 2020 J. Pozharashka et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
neurofibromatosis type I, cutaneous manifestations, treatment modalities