Segmental neurofibromatosis presenting with congenital excessive skin folds

Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or lim...

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Autores principales:	Alexander M. Helfand, Ariella Nouriel, Jonah Zisquit, Aviv Barzilai, Shoshana Greenberger
Formato:	article
Lenguaje:	EN
Publicado:	Mattioli1885 2015
Materias:	neurofibromatosis skin folds congenital Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/289fd487b73842099388d7e851bf17de
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spelling	oai:doaj.org-article:289fd487b73842099388d7e851bf17de2021-11-17T08:31:39ZSegmental neurofibromatosis presenting with congenital excessive skin folds10.5826/dpc.0502a212160-9381https://doaj.org/article/289fd487b73842099388d7e851bf17de2015-04-01T00:00:00Zhttp://dpcj.org/index.php/dpc/article/view/773https://doaj.org/toc/2160-9381 Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back. A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient’s neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor have not been previously described in the literature as a manifestation of SNF. Clinicians should be educated about the possibility of congenital localized skin folds in association with SNF in order to identify the disease in infancy and monitor any changes in neurofibroma pathology. Alexander M. HelfandAriella NourielJonah ZisquitAviv BarzilaiShoshana GreenbergerMattioli1885articleneurofibromatosisskin foldscongenitalDermatologyRL1-803ENDermatology Practical & Conceptual (2015)
institution	DOAJ
collection	DOAJ
language	EN
topic	neurofibromatosis skin folds congenital Dermatology RL1-803
spellingShingle	neurofibromatosis skin folds congenital Dermatology RL1-803 Alexander M. Helfand Ariella Nouriel Jonah Zisquit Aviv Barzilai Shoshana Greenberger Segmental neurofibromatosis presenting with congenital excessive skin folds
description	Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back. A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient’s neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor have not been previously described in the literature as a manifestation of SNF. Clinicians should be educated about the possibility of congenital localized skin folds in association with SNF in order to identify the disease in infancy and monitor any changes in neurofibroma pathology.
format	article
author	Alexander M. Helfand Ariella Nouriel Jonah Zisquit Aviv Barzilai Shoshana Greenberger
author_facet	Alexander M. Helfand Ariella Nouriel Jonah Zisquit Aviv Barzilai Shoshana Greenberger
author_sort	Alexander M. Helfand
title	Segmental neurofibromatosis presenting with congenital excessive skin folds
title_short	Segmental neurofibromatosis presenting with congenital excessive skin folds
title_full	Segmental neurofibromatosis presenting with congenital excessive skin folds
title_fullStr	Segmental neurofibromatosis presenting with congenital excessive skin folds
title_full_unstemmed	Segmental neurofibromatosis presenting with congenital excessive skin folds
title_sort	segmental neurofibromatosis presenting with congenital excessive skin folds
publisher	Mattioli1885
publishDate	2015
url	https://doaj.org/article/289fd487b73842099388d7e851bf17de
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Segmental neurofibromatosis presenting with congenital excessive skin folds

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