残毁性掌跖角皮病合并口周皮肤病的研究进展

魏皓然; 陶娟

doi:10.12376/j.issn.2097-0501.2023.02.004

残毁性掌跖角皮病合并口周皮肤病的研究进展

doi: 10.12376/j.issn.2097-0501.2023.02.004

魏皓然,
陶娟^,

华中科技大学同济医学院附属协和医院皮肤科，武汉 430000

详细信息

通信作者:
陶娟，E-mail：tjhappy@126.com

中图分类号: R758.5+3
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- 被引次数: 0
出版历程
- 收稿日期: 2023-01-15
- 录用日期: 2023-03-04
- 网络出版日期: 2023-05-05

Research Development in Patients with Olmsted Syndrome

WEI Haoran,
TAO Juan^,

Department of Dermatology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430000, China

More Information

Corresponding author: TAO Juan, E-mail: tjhappy@126.com

摘要

摘要: 残毁性掌跖角皮病合并口周皮肤病(OS)是一种极为罕见的遗传性皮肤病，以掌跖部位及口周皮肤的重度角化为特征。本病的诊断主要依赖于临床表现，同时需要排除其他皮肤角化过度相关的疾病。近年来关于OS病因的分子遗传学研究有许多进展，明确发生特定突变后可致病的基因包括TRPV3、MBTPS2/S2P及PERP。因此基因检测也成为诊断本病的重要手段之一。OS治疗困难，传统治疗采用外用药物软化皮肤角质层，或口服阿维A。对于严重限制活动的缩窄环，也可采用手术切除，但易复发；精准治疗采用小分子药物厄洛替尼和西罗莫司治疗，可显著改善掌趾角化。本文总结了OS的病因及发病机制、临床表现、诊断、治疗和及预后展望，以期提高临床医师对OS的认识。
- Olmsted综合征 /
- TRPV3基因 /
- 遗传模式 /
- 精准治疗
Abstract: Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The diagnosis of this disease depends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hyperkeratosis. In recent years, there have been many advances in molecular genetic research on the pathogenesis of the disease. The genes that can cause disease after specific mutations include TRPV3, MBTPS2/S2P and PERP. Therefore, genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is difficult, and conventional therapy uses topical drugs to soften the cuticle of the skin, or oral Avi A.Excision of palmoplantar keratosis may also be used for constricting rings that severely restrict movement, but they often reoccur after initial improvement. In terms of precision treatment, researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results. This paper summarizes the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of OS, in order to improve the clinicans' awareness of OS.
- Olmsted syndrome /
- TRPV3 gene /
- genetic model /
- precision treatment
注释:

作者贡献：魏皓然负责文献搜集整理、文章撰写；陶娟负责选题构思、修改指导。

利益冲突：所有作者均声明不存在利益冲突。

HTML全文

表 1 Olmsted综合征与其他角化过度疾病的鉴别诊断

Table 1. Differential diagnosis of Olmsted syndrome from other hyperkeratosis disorders

疾病名称	遗传方式	基因突变	特殊表现
Olmsted综合征	多数散发	TRPV3/MBPTS2/PERP	口周受累
沃温克综合征	AD	GJB2/LOR	常伴有听力丧失或鱼鳞病
Meleda病	AR	SLUPR1	常伴有多汗及鱼鳞病
Clouston综合征	AD	GJB6/EDA/MSX1/KRT85等	少毛、少汗、特殊容貌
掌跖角化-牙周破坏综合征	AR	CTSC	破坏性牙周炎
先天性厚甲症	AD	KRT6a/b、KRT16、KRT17	指(趾)甲显著肥厚
酪氨酸血症Ⅱ型	AR	TAT	除皮肤外还累及眼和神经系统
肠病性肢端皮炎	AR	SLC39A4	除皮肤外还有腹泻表现
AD：常染色体显性遗传；AR：常染色体隐性遗传

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参考文献(48)

[1]	Olmsted HC. Keratodermia palmaris et plantaris congenitalis report of a case showing associated lesions of unusual location[J]. Am J Dis Child, 1927, 33(5): 757-764. doi: 10.1001/archpedi.1927.04130170055008
[2]	Kress DW, Seraly MP, Falo L, et al. Olmsted syndrome. Case report and identification of a keratin abnormality[J]. Arch Dermatol, 1996, 132(7): 797-800. doi: 10.1001/archderm.1996.03890310083012
[3]	Raskin CA, Tu JH. Keratin expression in Olmsted syndrome[J]. Arch Dermatol, 1997, 133(3): 389.
[4]	Tao J, Huang CZ, Yu NW, et al. Olmsted syndrome: a case report and review of literature[J]. Int J Dermatol, 2008, 47(5): 432-437. doi: 10.1111/j.1365-4632.2008.03595.x
[5]	Requena L, Manzarbeitia F, Moreno C, et al. Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma[J]. Am J Dermatopathol, 2001, 23(6): 514-520. doi: 10.1097/00000372-200112000-00003
[6]	Tonoli RE, Villa DD, Frainer RH, et al. Olmsted syndrome[J]. Case Rep Dermatol Med, 2012, 2012: 927305.
[7]	Lin Z, Chen Q, Lee M, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome[J] Am J Hum Genet, 2012, 90(3): 558-564. doi: 10.1016/j.ajhg.2012.02.006
[8]	Xu H, Ramsey IS, Kotecha SA, et al. TRPV3 is a calcium-permeable temperature-sensitive cation channel[J]. Nature, 2002, 418(6894): 181-186. doi: 10.1038/nature00882
[9]	Zhang A, Duchatelet S, Lakdawala N, et al. Targeted inhibition of the epidermal growth factor receptor and mammalian target of rapamycin signaling pathways in Olmsted syndrome[J]. JAMA Dermatol, 2020, 156(2): 196-200. doi: 10.1001/jamadermatol.2019.4141
[10]	Moqrich A, Hwang SW, Earley TJ, et al. Impaired thermosensation in mice lacking TRPV3, a heat and camphor sensor in the skin[J]. Science, 2005, 307(5714): 1468-1472. doi: 10.1126/science.1108609
[11]	Wilson NJ, Cole C, Milstone LM, et al. Expanding the Phenotypic Spectrum of Olmsted Syndrome[J]. J Invest Dermatol, 2015, 135(11): 2879-2883. doi: 10.1038/jid.2015.217
[12]	Zhong W, Hu L, Cao X, et al. Genotype-phenotype correlation of TRPV3-related Olmsted syndrome[J]. J Invest Dermatol, 2021, 141(3): 545-554. doi: 10.1016/j.jid.2020.06.035
[13]	Haghighi A, Scott CA, Poon DS, et al. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome[J]. J Invest Dermatol, 2013, 133(2): 571-573. doi: 10.1038/jid.2012.289
[14]	Wang HJ, Tang ZL, Lin ZM, et al. Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient[J]. Clin Exp Dermatol, 2014, 39(2): 158-161. doi: 10.1111/ced.12248
[15]	Song D, Ran X, Chen Y, et al. Recurrent c. 459 C>A mutation of the PERP gene results in severe Olmsted syndrome with congenital hypotrichosis, atopic dermatitis, and growth retardation[J]. J Dermatol, 2021, 48(10): E508-E509.
[16]	Duchatelet S, Boyden LM, Ishida-Yamamoto A, et al. Mutations in PERP cause dominant and recessive keratoderma[J]. J Invest Dermatol, 2019, 139(2): 380-390. doi: 10.1016/j.jid.2018.08.026
[17]	Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, et al. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP[J]. J Eur Acad Dermatol Venereol, 2022, 36(3): 472-479. doi: 10.1111/jdv.17856
[18]	Dai S, Sun Z, Lee M, et al. Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP[J]. Br J Dermatol, 2020, 182(1): 242-244.
[19]	Duchatelet S, Guibbal L, de Veer S, et al. Olmsted syndrome with erythromelalgia caused by recessive TRPV3 mutations[J]. Br J Dermatol, 2014, 171(3): 675-678. doi: 10.1111/bjd.12951
[20]	Duchatelet S, Pruvost S, de Veer S, et al. A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia[J]. JAMA Dermatol, 2014, 150(3): 303-306. doi: 10.1001/jamadermatol.2013.8709
[21]	Attia AM, Bakry OA. Olmsted syndrome[J]. J Dermatol Case Rep, 2013, 7(2): 42-45.
[22]	Nofal A, Assaf M, Nassar A, et al. Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?[J]. Int J Dermatol, 2010, 49(6): 658-665. doi: 10.1111/j.1365-4632.2009.04429.x
[23]	He Y, Zeng K, Zhang X, et al. A gain-of-function mutation in TRPV3 causes focal Palmoplantar Keratoderma in a Chinese family[J]. J Invest Dermatol, 2015, 135(3): 907-909. doi: 10.1038/jid.2014.429
[24]	Greco C, Leclerc-Mercier S, Chaumon S, et al. Use of epidermal growth factor receptor inhibitor erlotinib to treat palmoplantar keratoderma in patients with Olmsted syndrome caused by TRPV3 mutations[J]. JAMA Dermatol, 2020, 156(2): 191-195. doi: 10.1001/jamadermatol.2019.4126
[25]	Georgii A, Przybilla B, Schmoeckel C. Olmstedt syndrome-associated with primary sclerosing cholangitis and immune deficiency of uncertain origin[J]. Hautarzt, 1989, 40(11): 708-712.
[26]	Judge MR, Misch K, Wright P, et al. Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia: a new syndrome[J]. Br J Dermatol, 1991, 125(2): 186-188. doi: 10.1111/j.1365-2133.1991.tb06070.x
[27]	Larregue M, Callot V, Kanitakis J, et al. Olmsted syndrome: report of two new cases and literature review[J]. J Dermatol, 2000, 27(9): 557-568. doi: 10.1111/j.1346-8138.2000.tb02229.x
[28]	Barnett JH, Estes SA. Multiple epitheliomata cuniculata occurring in a mutilating keratoderma[J]. Cutis, 1985, 35(4): 345-347.
[29]	Hausser I, Frantzmann Y, Anton-Lamprecht I, et al. Olmsted syndrome. Successful therapy by treatment with etretinate[J]. Hautarzt, 1993, 44(6): 394-400.
[30]	Yoshizaki Y, Kanki H, Ueda T, et al. A further case of plantarsquamous cell carcinoma arising in Olmsted syndrome[J]. Br J Dermatol, 2001, 145(4): 685-686. doi: 10.1046/j.1365-2133.2001.04453.x
[31]	Dessureault J, Poulin Y, Bourcier M, et al. Olmsted syndrome palmoplantar and periorificial keratodermas: association with malignant melanoma[J]. J Cutan Med Surg, 2003, 7(3): 236-242. doi: 10.1177/120347540300700309
[32]	Ogawa F, Udono M, Murota H, et al. Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation[J]. Eur J Dermatol, 2003, 13(6): 524-528.
[33]	Dogra D, Ravindraprasad JS, Khanna N, et al. Olmsted syndrome with hypotrichosis[J]. Indian J Dermatol Venereol Leprol, 1997, 63(2): 120-122.
[34]	Mevorah B, Goldberg I, Sprecher E, et al. Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques[J]. J Am Acad Dermatol, 2005, 53(5 Suppl 1): S266-S272.
[35]	Tang L, Zhang L, Ding H, et al. Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid[J]. J Dermatol, 2012, 39(9): 816-817. doi: 10.1111/j.1346-8138.2012.01535.x
[36]	Faizan S, Adil M, Amin SS, et al. Olmsted syndrome with follicular hyperkeratosis and pityriasis amiantacea[J]. Actas Dermosifiliogr, 2022, 113(6): 646-648. doi: 10.1016/j.ad.2020.08.036
[37]	Ogawa F, Udono M, Murota H, et al. Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation[J]. Eur J Dermatol, 2003, 13(6): 524-528.
[38]	Poulin Y, Perry HO, Muller SA. Olmsted syndrome-congenital palmoplantar and periorificial keratoderma[J]. J Am Acad Dermatol, 1984, 10(4): 600-610. doi: 10.1016/S0190-9622(84)80264-9
[39]	Santos OL, Amorim JH, Voloch K, et al. The Olmsted syndrome[J]. Int J Dermatol, 1997, 36(5): 359-360.
[40]	Ueda M, Nakagawa K, Hayashi K, et al. Partial improve-ment of Olmsted syndrome with etretinate[J]. Pediatr Dermatol, 1993, 10(4): 376-381. doi: 10.1111/j.1525-1470.1993.tb00404.x
[41]	Fonseca E, Pena C, Del Pozo J, et al. Olmsted syndrome[J]. J Cutan Pathol, 2001, 28(5): 271-275. doi: 10.1034/j.1600-0560.2001.028005271.x
[42]	Batra P, Shah N. Olmsted syndrome-a rare syndrome with oral manifestations[J]. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 2004, 97(5): 599-602. doi: 10.1016/j.tripleo.2003.10.025
[43]	Faizan S, Adil M, Amin SS, et al. Olmsted syndrome with follicular hyperkeratosis and pityriasis amiantacea[J]. Actas Dermosifiliogr, 2022, 113(6): 646-648. doi: 10.1016/j.ad.2020.08.036
[44]	Bergonse FN, Rabello SM, Barreto RL, et al. Olmsted syndrome: the clinical spectrum of mutilating palmo-plantar keratoderma[J]. Pediatr Dermatol, 2003, 20(4): 323-326. doi: 10.1046/j.1525-1470.2003.20410.x
[45]	陆原, 陈达灿, 翁翊, 等. Olmsted综合征与1例文献复习[J]. 中国皮肤性病学杂志, 2008(7): 423-425. https://www.cnki.com.cn/Article/CJFDTOTAL-ZBFX200807022.htm
[46]	Demir FT, Çaytemel C, Caf N, et al. Case of Olmsted syndrome with essential thrombocytosis misdiagnosed as acrodermatitis enteropathica[J]. Indian J Dermatol, 2021, 66(5): 574.
[47]	Nico MMS, Fernandes JD. Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis)[J]. J Dtsch Dermatol Ges, 2017, 15(6): 665-667. doi: 10.1111/ddg.13254
[48]	Fan J, Hu L, Yue Z, et al. Structural basis of TRPV3 inhibition by an antagonist[J]. Nat Chem Biol, 2023, 19(1): 81-90. doi: 10.1038/s41589-022-01166-5