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

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 mu...

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Autores principales:	Pozharashka J., Dourmishev L., Bardarov E., Balabanova M., Miteva L.
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2020
Materias:	neurofibromatosis type i cutaneous manifestations treatment modalities Medicine R
Acceso en línea:	https://doaj.org/article/ccd91bdf10a24851a3c1063bcabaf0c7
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spelling	oai:doaj.org-article:ccd91bdf10a24851a3c1063bcabaf0c72021-12-02T19:11:31ZNeurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature0324-175010.2478/amb-2020-0023https://doaj.org/article/ccd91bdf10a24851a3c1063bcabaf0c72020-07-01T00:00:00Zhttps://doi.org/10.2478/amb-2020-0023https://doaj.org/toc/0324-1750Neurofibromatosis 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.Pozharashka J.Dourmishev L.Bardarov E.Balabanova M.Miteva L.Sciendoarticleneurofibromatosis type icutaneous manifestationstreatment modalitiesMedicineRENActa Medica Bulgarica, Vol 47, Iss 2, Pp 43-46 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	neurofibromatosis type i cutaneous manifestations treatment modalities Medicine R
spellingShingle	neurofibromatosis type i cutaneous manifestations treatment modalities Medicine R Pozharashka J. Dourmishev L. Bardarov E. Balabanova M. Miteva L. Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
description	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.
format	article
author	Pozharashka J. Dourmishev L. Bardarov E. Balabanova M. Miteva L.
author_facet	Pozharashka J. Dourmishev L. Bardarov E. Balabanova M. Miteva L.
author_sort	Pozharashka J.
title	Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
title_short	Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
title_full	Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
title_fullStr	Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
title_full_unstemmed	Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature
title_sort	neurofibromatosis type i (von recklinghausen disease): a case report and review of the literature
publisher	Sciendo
publishDate	2020
url	https://doaj.org/article/ccd91bdf10a24851a3c1063bcabaf0c7
work_keys_str_mv	AT pozharashkaj neurofibromatosistypeivonrecklinghausendiseaseacasereportandreviewoftheliterature AT dourmishevl neurofibromatosistypeivonrecklinghausendiseaseacasereportandreviewoftheliterature AT bardarove neurofibromatosistypeivonrecklinghausendiseaseacasereportandreviewoftheliterature AT balabanovam neurofibromatosistypeivonrecklinghausendiseaseacasereportandreviewoftheliterature AT miteval neurofibromatosistypeivonrecklinghausendiseaseacasereportandreviewoftheliterature
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Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

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