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难梳头发综合征

Uncombable hair syndrome.

作者信息

Calderon Pamela, Otberg Nina, Shapiro Jerry

机构信息

Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.

出版信息

J Am Acad Dermatol. 2009 Sep;61(3):512-5. doi: 10.1016/j.jaad.2009.01.006.

DOI:10.1016/j.jaad.2009.01.006
PMID:19700017
Abstract

Uncombable hair syndrome is a relatively rare anomaly of the hair shaft, with less than 100 cases reported to date, that results in a disorganized, unruly hair pattern that is impossible to comb flat. The characteristic longitudinal grooves along the hair shaft, along with the triangular or kidney-shaped cross section allows this condition to be diagnosed microscopically. The majority of cases are inherited in an autosomal-dominant manner with either complete or incomplete penetrance. There is no definitive treatment, and most cases improve with the onset of puberty.

摘要

难梳头发综合征是一种相对罕见的毛干异常疾病,迄今为止报道的病例不足100例,其导致头发杂乱无章、难以梳理平整。沿着毛干的特征性纵向凹槽以及三角形或肾形横截面使得这种疾病能够通过显微镜诊断。大多数病例以常染色体显性方式遗传,具有完全或不完全外显率。目前尚无确切的治疗方法,大多数病例在青春期开始后会有所改善。

相似文献

1
Uncombable hair syndrome.难梳头发综合征
J Am Acad Dermatol. 2009 Sep;61(3):512-5. doi: 10.1016/j.jaad.2009.01.006.
2
Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy.难梳理头发(三角形毛发和有沟毛发):基于扫描电子显微镜检查的完全显性遗传证据。
Am J Med Genet. 1987 Sep;28(1):185-93. doi: 10.1002/ajmg.1320280126.
3
[A syndrome: uncombable hair. Observation of 6 members of a family with pili canaliculi, associated with pili torti, progressive alopecia, atopic eczema and hamartomas].[A综合征:难梳理毛发。对一个患有毛发管腔、伴有扭曲毛发、进行性脱发、特应性皮炎和错构瘤的家族6名成员的观察]
Hautarzt. 1982 Jul;33(7):366-72.
4
[Pili canaliculi (uncombable hair syndrome or spun glass hair syndrome). A scanning electron microscope study of ten new cases (author's transl)].[毛囊管(难梳理毛发综合征或玻璃丝样毛发综合征)。十例新病例的扫描电子显微镜研究(作者译)]
Ann Dermatol Venereol. 1980 Apr;107(4):243-8.
5
Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).拉普-霍奇金综合征:10例观察及特征性毛发改变(毛发管腔)
Birth Defects Orig Artic Ser. 1988;24(2):149-68.
6
Uncombable hair syndrome: a clinical report.难梳理毛发综合征:一份临床报告。
Eur J Med Genet. 2007 Jul-Aug;50(4):309-14. doi: 10.1016/j.ejmg.2007.03.002. Epub 2007 Apr 11.
7
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.难梳理头发(蓬乱发、三角形毛发和毛囊管)综合征:简要综述及扫描电子显微镜在诊断中的作用
Ultrastruct Pathol. 2001 Mar-Apr;25(2):99-103.
8
Autosomal dominant ectodermal dysplasia.常染色体显性外胚层发育不良
J Craniofac Genet Dev Biol. 1987;7(4):403-12.
9
Pili trianguli et canaliculi: a distinctive hair shaft defect leading to uncombable hair.三角形毛发和毛囊管:一种导致难梳理毛发的独特毛干缺陷。
Dermatology. 1993;187(4):296-8. doi: 10.1159/000247273.
10
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia.
J Am Acad Dermatol. 1985 Jul;13(1):97-102. doi: 10.1016/s0190-9622(85)70150-8.

引用本文的文献

1
Pili Trianguli et Canaliculi: A Case Report with 10-year Follow-Up.三角嵴与沟:一例随访10年的病例报告
Int J Trichology. 2022 Sep-Oct;14(5):188-189. doi: 10.4103/ijt.ijt_53_20. Epub 2022 Oct 7.
2
Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.毛发显微镜检查:儿童系统性疾病诊断的便捷辅助手段。
Appl Microsc. 2021 Nov 29;51(1):18. doi: 10.1186/s42649-021-00067-6.
3
Hair That Is Difficult to Manage in a Hispanic Girl.难以打理的西班牙裔女孩的头发。
Skin Appendage Disord. 2018 Jan;4(1):41-43. doi: 10.1159/000477741. Epub 2017 Jul 20.
4
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.编码参与毛干形成的蛋白质的三个基因发生突变会导致难梳头发综合征。
Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17.