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Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
J Dermatol. 2015 Jul; 42(7):703-5.JD

Abstract

Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly.

Authors+Show Affiliations

Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.Department of Dermatology, Tokyo Medical University, Tokyo, Japan.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25981987

Citation

Sakai, Noriyasu, et al. "Family With Legius Syndrome (neurofibromatosis Type 1-like Syndrome)." The Journal of Dermatology, vol. 42, no. 7, 2015, pp. 703-5.
Sakai N, Maeda T, Kawakami H, et al. Family with Legius syndrome (neurofibromatosis type 1-like syndrome). J Dermatol. 2015;42(7):703-5.
Sakai, N., Maeda, T., Kawakami, H., Uchiyama, M., Harada, K., Tsuboi, R., & Mitsuhashi, Y. (2015). Family with Legius syndrome (neurofibromatosis type 1-like syndrome). The Journal of Dermatology, 42(7), 703-5. https://doi.org/10.1111/1346-8138.12862
Sakai N, et al. Family With Legius Syndrome (neurofibromatosis Type 1-like Syndrome). J Dermatol. 2015;42(7):703-5. PubMed PMID: 25981987.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Family with Legius syndrome (neurofibromatosis type 1-like syndrome). AU - Sakai,Noriyasu, AU - Maeda,Tatsuro, AU - Kawakami,Hiroshi, AU - Uchiyama,Masaki, AU - Harada,Kazutoshi, AU - Tsuboi,Ryoji, AU - Mitsuhashi,Yoshihiko, Y1 - 2015/05/18/ PY - 2014/11/13/received PY - 2015/02/16/accepted PY - 2015/5/19/entrez PY - 2015/5/20/pubmed PY - 2016/12/15/medline KW - Legius syndrome KW - SPRED1 KW - cafe-au-lait macules KW - neurofibroma KW - neurofibromatosis type 1 SP - 703 EP - 5 JF - The Journal of dermatology JO - J Dermatol VL - 42 IS - 7 N2 - Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first reported by Legius et al. in 2007. We herein report the first instance of Legius syndrome occurring in two female siblings in Japan. Both individuals presented cafe-au-lait macules and freckling. Mutation analysis revealed a mutation of c.349C>T resulting in p.Arg117* in the SPRED1 gene as the cause of the Legius syndrome. The National Institutes of Health criteria for NF1 are insufficient to rule out the condition. For this reason, and because the clinical course of each condition is quite different, we stress the need to differentiate Legius syndrome from NF1 clearly. SN - 1346-8138 UR - https://www.unboundmedicine.com/medline/citation/25981987/Family_with_Legius_syndrome__neurofibromatosis_type_1_like_syndrome__ L2 - https://doi.org/10.1111/1346-8138.12862 DB - PRIME DP - Unbound Medicine ER -