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努南综合征、科斯特洛综合征和豹皮综合征的颅面及皮肤表现。

Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes.

作者信息

Pokrowiecki Rafał, Chomik Piotr, Borowiec Maciej, Dowgierd Krzysztof, Starzyńska Anna

机构信息

Department of Maxillofacial Surgery, Voivodeship Specialist Children's Hospital, Olsztyn, Poland.

Department of Oral Surgery, Medical University of Gdansk, Gdansk, Poland.

出版信息

Postepy Dermatol Alergol. 2018 Oct;35(5):437-441. doi: 10.5114/pdia.2017.70330. Epub 2018 Jul 19.

DOI:10.5114/pdia.2017.70330
PMID:30429698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6232548/
Abstract

Noonan, Costello and LEOPARD syndromes belong to a family of cardiofaciocutaneous disorders and share common genetic traits. As they are associated with a germline mutation in genes encoding proteins involved in RAS/MAPK, patients suffering from these syndromes are at a greater risk of cancer and abnormal myelopoiesis in infancy. Patients with cardio faciocutaneous syndromes share some clinically overlapping syndromes, therefore differential diagnosis can be problematic. In this paper we aim at demonstrating distinctive craniofacial and cutaneous manifestations of Noonan, Costello and LEOPARD syndromes which can be useful for clinicians who aim at treatment of children with rare diseases.

摘要

努南综合征、科斯特洛综合征和豹皮综合征属于心脏颜面皮肤疾病家族，具有共同的遗传特征。由于它们与编码参与RAS/MAPK的蛋白质的基因种系突变相关，患有这些综合征的患者在婴儿期患癌症和骨髓异常造血的风险更高。心脏颜面皮肤综合征患者有一些临床重叠的症状，因此鉴别诊断可能存在问题。在本文中，我们旨在展示努南综合征、科斯特洛综合征和豹皮综合征独特的颅面和皮肤表现，这对旨在治疗罕见病患儿的临床医生可能有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d453/6232548/399beff93d96/PDIA-35-70330-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d453/6232548/047e0038149e/PDIA-35-70330-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d453/6232548/399beff93d96/PDIA-35-70330-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d453/6232548/047e0038149e/PDIA-35-70330-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d453/6232548/399beff93d96/PDIA-35-70330-g002.jpg

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本文引用的文献

1
Correction of a severe Class II malocclusion in a patient with Noonan syndrome.努南综合征患者严重安氏II类错牙合畸形的矫治
Am J Orthod Dentofacial Orthop. 2016 Sep;150(3):511-20. doi: 10.1016/j.ajodo.2015.09.032.
2
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.患有努南综合征伴多发雀斑样痣的患者出现多处巨细胞病变。
Eur J Med Genet. 2016 Aug;59(8):425-8. doi: 10.1016/j.ejmg.2016.05.013. Epub 2016 May 26.
3
Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
努南综合征、心面皮肤综合征和科斯特洛综合征面部的客观研究：Ras/MAPK信号通路三种疾病的比较
Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.
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Recent advances in RASopathies.RAS 病的最新进展。
J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8.
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Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.伴有KRAS突变的颅缝早闭与努南综合征：通过一例病例报告及文献复习扩展其表型
Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6.
6
LEOPARD syndrome: you could be the first one to diagnose!豹综合征：你可能是第一个做出诊断的人！
J Indian Soc Pedod Prev Dent. 2015 Jan-Mar;33(1):57-60. doi: 10.4103/0970-4388.149008.
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RAS diseases in children.儿童RAS疾病
Haematologica. 2014 Nov;99(11):1653-62. doi: 10.3324/haematol.2014.114595.
8
Noonan syndrome.努南综合征。
Am Fam Physician. 2014 Jan 1;89(1):37-43.
9
Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.拉索病——伴有身材矮小和恶性肿瘤风险的畸形综合征。
Endocr Regul. 2013 Oct;47(4):217-22. doi: 10.4149/endo_2013_04_217.
10
The other side of Turner's: Noonan's syndrome.特纳综合征的另一面：努南综合征。
Indian J Endocrinol Metab. 2013 Sep;17(5):794-8. doi: 10.4103/2230-8210.117197.