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一名印度儿童的皮肤松弛症5年病程：再探德巴尔西综合征

A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited.

作者信息

Dutta Abhijit, Ghosh Sudip Kumar, Ghosh Arghyaprasun, Roy Sutirtha

机构信息

Department of Pediatric Medicine, North Bengal Medical College, Siliguri, West Bengal, India.

Department of Dermatology, Venereology, and Leprosy, R. G. Kar Medical College, Kolkata, West Bengal, India.

出版信息

Indian J Dermatol. 2016 Jan-Feb;61(1):81-4. doi: 10.4103/0019-5154.174031.

DOI:10.4103/0019-5154.174031
PMID:26955101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4763701/
Abstract

De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities. We present here an account of 5-year follow-up since the birth of an Indian boy with DBS, who had a few rare and unusual manifestations. In addition, our case probably represents the first reported case of DBS from India.

摘要

德巴尔西综合征（DBS），也被称为常染色体隐性遗传性皮肤松弛症III型，是一种极为罕见的疾病，临床特征为皮肤松弛、早老样外貌和眼科异常。我们在此报告一名患有DBS的印度男童自出生起的5年随访情况，该患儿有一些罕见且不寻常的表现。此外，我们的病例可能是印度首例报道的DBS病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/1239e17e6439/IJD-61-81-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/4a69a41a4198/IJD-61-81-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/060916ab9b09/IJD-61-81-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/58dc9f6bb780/IJD-61-81-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/32fdf57402ea/IJD-61-81-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/1239e17e6439/IJD-61-81-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/4a69a41a4198/IJD-61-81-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/060916ab9b09/IJD-61-81-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/58dc9f6bb780/IJD-61-81-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/32fdf57402ea/IJD-61-81-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9df4/4763701/1239e17e6439/IJD-61-81-g005.jpg

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本文引用的文献

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De Barsy syndrome and ATP6V0A2-CDG.德巴尔西综合征与ATP6V0A2 - 先天性糖基化障碍
Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16.
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De Barsy syndrome: a review of the phenotype.德巴尔西综合征：表型综述
Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964.
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The De Barsy syndrome.
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The de Barsy syndrome.
Turk J Pediatr. 2001 Jan-Mar;43(1):79-84.
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De Barsy syndrome--an autosomal recessive, progeroid syndrome.德巴尔西综合征——一种常染色体隐性早衰综合征。
Eur J Pediatr. 1985 Nov;144(4):348-54. doi: 10.1007/BF00441776.
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