Association between neurofibromatosis type 1 and piebaldism confirmed by genetic analysis. Review of the literature.

Aranibar L. Durán; Guzmán A. Rossi; V. Burckhardt-Bravo

doi:10.26326/2281-9649.35.1.2715

Association between neurofibromatosis type 1 and piebaldism confirmed by genetic analysis. Review of the literature.

Aranibar L. Durán
, Guzmán A. Rossi
, V. Burckhardt-Bravo

Research output: Contribution to journal › Article › peer-review

Abstract

Other cases fulfilling the diagnostic criteria for NF1 and piebaldism have been described in the literature, suggesting a possible association between these conditions. However, this relationship remains uncertain. To our knowledge, the current case is the first to document the association between neurofibromatosis type 1 and piebaldism, confirmed by genetic analysis, and to underline the importance of genetic studies in the early diagnosis of these conditions.

Original language	English
Pages (from-to)	23-26
Number of pages	4
Journal	European Journal of Pediatric Dermatology
Volume	35
Issue number	1
DOIs	https://doi.org/10.26326/2281-9649.35.1.2715
State	Published - Jan 2025

Bibliographical note

Publisher Copyright:
© 2025 Dermatologia Pediatrica. All rights reserved.

Keywords

genetic mutations
Neurofibromatosis
piebaldism

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10.26326/2281-9649.35.1.2715

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title = "Association between neurofibromatosis type 1 and piebaldism confirmed by genetic analysis. Review of the literature.",

abstract = "Other cases fulfilling the diagnostic criteria for NF1 and piebaldism have been described in the literature, suggesting a possible association between these conditions. However, this relationship remains uncertain. To our knowledge, the current case is the first to document the association between neurofibromatosis type 1 and piebaldism, confirmed by genetic analysis, and to underline the importance of genetic studies in the early diagnosis of these conditions.",

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PY - 2025/1

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AB - Other cases fulfilling the diagnostic criteria for NF1 and piebaldism have been described in the literature, suggesting a possible association between these conditions. However, this relationship remains uncertain. To our knowledge, the current case is the first to document the association between neurofibromatosis type 1 and piebaldism, confirmed by genetic analysis, and to underline the importance of genetic studies in the early diagnosis of these conditions.

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KW - Neurofibromatosis

KW - piebaldism

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Association between neurofibromatosis type 1 and piebaldism confirmed by genetic analysis. Review of the literature.

Abstract

Bibliographical note

Keywords

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