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奥姆斯特德综合征

Olmsted syndrome.

作者信息

Elise Tonoli Renata, De Villa Damiê, Hübner Frainer Renata, Pizzarro Meneghello Luana, Ricachnevsky Nelson, de Quadros Maurício

机构信息

Department of Dermatology, Brazilian Society of Dermatology, Santo Antônio Hospital, Santa Casa de Midericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

出版信息

Case Rep Dermatol Med. 2012;2012:927305. doi: 10.1155/2012/927305. Epub 2012 Dec 23.

DOI:10.1155/2012/927305
PMID:23320205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3540698/
Abstract

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of Olmsted syndrome is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. The present paper describes a case of Olmsted syndrome and its treatment.

摘要

奥姆斯特德综合征是一种罕见的先天性、边界清晰的进行性掌跖角化病。它于1927年由奥姆斯特德首次描述。这种罕见疾病的诊断取决于临床特征,如手掌和足底角化病的对称性受累以及身体孔口周围的对称性角化过度斑块。它始于新生儿期或儿童期。该疾病病程缓慢但呈进行性发展,且致残性极强。奥姆斯特德综合征的治疗通常基于外用维甲酸、皮质类固醇、润肤剂和角质剥脱剂。本文描述了一例奥姆斯特德综合征病例及其治疗情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/1c9d0ef6e710/CRIM.DM2012-927305.008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/5c73888466b2/CRIM.DM2012-927305.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/a9de6ccc03ca/CRIM.DM2012-927305.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/5c08f84a7530/CRIM.DM2012-927305.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/2a93569f99b3/CRIM.DM2012-927305.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/467db592d18a/CRIM.DM2012-927305.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/f117125eb958/CRIM.DM2012-927305.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/9dc976a181a9/CRIM.DM2012-927305.007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/1c9d0ef6e710/CRIM.DM2012-927305.008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/5c73888466b2/CRIM.DM2012-927305.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/a9de6ccc03ca/CRIM.DM2012-927305.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/5c08f84a7530/CRIM.DM2012-927305.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/2a93569f99b3/CRIM.DM2012-927305.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/467db592d18a/CRIM.DM2012-927305.005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/f117125eb958/CRIM.DM2012-927305.006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/9dc976a181a9/CRIM.DM2012-927305.007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a491/3540698/1c9d0ef6e710/CRIM.DM2012-927305.008.jpg

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本文引用的文献

1
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.外显子组测序揭示 TRPV3 基因突变是 Olmsted 综合征的病因。
Am J Hum Genet. 2012 Mar 9;90(3):558-64. doi: 10.1016/j.ajhg.2012.02.006.
2
Olmsted syndrome: a case report and review of literature.奥姆斯特德综合征:一例病例报告及文献综述
Int J Dermatol. 2008 May;47(5):432-7. doi: 10.1111/j.1365-4632.2008.03595.x.
3
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma.
Pediatr Dermatol. 2003 Jul-Aug;20(4):323-6. doi: 10.1046/j.1525-1470.2003.20410.x.
J Transl Med. 2021 Mar 20;19(1):114. doi: 10.1186/s12967-021-02779-5.
4
Comment on "Olmsted Syndrome".关于《奥姆斯特德综合征》的评论
Case Rep Dermatol Med. 2020 Jun 3;2020:8024981. doi: 10.1155/2020/8024981. eCollection 2020.
5
Hypotrichosis in a Child with Olmsted Syndrome.一名患有奥姆斯特德综合征儿童的毛发稀少症
Indian Dermatol Online J. 2018 Jan-Feb;9(1):65-68. doi: 10.4103/idoj.IDOJ_10_17.
6
Olmsted Syndrome in a Family.一个家族中的奥姆斯特德综合征
Int J Trichology. 2016 Oct-Dec;8(4):168-170. doi: 10.4103/0974-7753.203175.
7
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes.导致奥姆斯特德综合征的瞬时受体电位香草酸亚型3(TRPV3)突变体可诱导细胞黏附受损和溶酶体功能失调。
Channels (Austin). 2017 May 4;11(3):196-208. doi: 10.1080/19336950.2016.1249076. Epub 2016 Oct 18.
8
Olmsted syndrome: clinical, molecular and therapeutic aspects.奥姆斯特德综合征:临床、分子及治疗方面
Orphanet J Rare Dis. 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5.
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Olmsted syndrome.奥姆斯特德综合征
J Cutan Pathol. 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x.
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Olmsted syndrome: report of a new case.奥姆斯特德综合征:一例新病例报告。
Br J Dermatol. 1997 Jun;136(6):935-8.