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内格利-弗朗切斯科蒂-雅达松综合征：一种罕见的网状色素沉着疾病。

Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder.

作者信息

Sanodia Gitika, Hulmani Manjunath, Kumar V Jagannath

机构信息

Department of Dermatology, SS Institute of Medical Sciences and Research Centre, Davanagere, Karnataka, India.

出版信息

Indian J Dermatol. 2019 May-Jun;64(3):235-238. doi: 10.4103/ijd.IJD_653_16.

DOI:10.4103/ijd.IJD_653_16
PMID:31148864
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6537681/
Abstract

Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We report a case of 16-year-old female who had generalized reticulate pigmentation, dental changes, nail changes, and absence of dermatoglyphics and hypohydrosis.

摘要

内格利-弗朗切斯科蒂-雅达索恩综合征是一种罕见的常染色体显性遗传性外胚层发育不良，会影响汗腺、指甲、牙齿和皮肤。我们报告一例16岁女性病例，该患者有全身性网状色素沉着、牙齿改变、指甲改变、无皮纹和少汗症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/6533859f6709/IJD-64-235-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/f22f7c746719/IJD-64-235-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/a20a55cb4ee3/IJD-64-235-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/8cade1a4b001/IJD-64-235-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/aa9bac92d394/IJD-64-235-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/6533859f6709/IJD-64-235-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/f22f7c746719/IJD-64-235-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/a20a55cb4ee3/IJD-64-235-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/8cade1a4b001/IJD-64-235-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/aa9bac92d394/IJD-64-235-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1a0/6537681/6533859f6709/IJD-64-235-g005.jpg

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本文引用的文献

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Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review.网状色素性皮病：1例新病例报告及文献复习
Indian J Dermatol. 2016 Jul-Aug;61(4):468. doi: 10.4103/0019-5154.185766.
2
Naegeli-Franceschetti-Jadassohn syndrome: A rare case.内格利-弗朗切斯科蒂-雅达索恩综合征：1例罕见病例。
Indian Dermatol Online J. 2015 Nov-Dec;6(6):403-6. doi: 10.4103/2229-5178.169712.
3
Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.
J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21.
4
Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder.网状色素性皮病：一种罕见的网状色素沉着性疾病。
Indian Dermatol Online J. 2013 Jan;4(1):40-2. doi: 10.4103/2229-5178.105470.
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Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
Dermatology. 2010;221(2):135-6. doi: 10.1159/000314693. Epub 2010 Jun 26.
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[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].[内格利-弗朗切斯科蒂-雅达松综合征与网状色素沉着性皮病。两种与编码角蛋白14的显性基因突变相关的等位基因外胚层发育异常]
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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.内格利-弗朗切斯科蒂-雅达松综合征和网状色素性皮病：由KRT14显性突变引起的两种等位基因外胚层发育异常。
Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25.
8
Comprehensive analysis of keratin gene clusters in humans and rodents.人类和啮齿动物角蛋白基因簇的综合分析。
Eur J Cell Biol. 2004 Feb;83(1):19-26. doi: 10.1078/0171-9335-00354.
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[On incontinentia pigmenti and differentiation of two syndromes appearing under the same name].
Dermatologica. 1954 Jan;108(1):1-28.
10
The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.内格利-弗朗切斯科蒂-雅达松综合征的基因定位于17号染色体长臂21区。
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