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具有可变表达的念珠状发。

Monilethrix with variable expressivity.

作者信息

Bindurani S, Rajiv S

机构信息

Department of Dermatology, Pariyaram Medical College, Kannur, Kerala, India.

出版信息

Int J Trichology. 2013 Jan;5(1):53-5. doi: 10.4103/0974-7753.114703.

DOI:10.4103/0974-7753.114703
PMID:23960403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3746233/
Abstract

Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis. Light microscopy of hair reveals a beaded appearance. Here, we report the case of a 32-year-old male who presented with sparse hair and follicular keratotic papules in the absence of any family history.

摘要

念珠状发是一种罕见的常染色体显性遗传性毛干疾病，表现度可变。通常表现为头皮毛发短而易折断以及毛囊角化过度。毛发的光学显微镜检查显示呈串珠状外观。在此，我们报告一例32岁男性病例，该患者在无任何家族史的情况下出现毛发稀疏和毛囊角化性丘疹。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/67dc78edd516/IJT-5-53-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/dedb192354fb/IJT-5-53-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/86e414948f2c/IJT-5-53-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/ccdc1071908d/IJT-5-53-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/67dc78edd516/IJT-5-53-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/dedb192354fb/IJT-5-53-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/86e414948f2c/IJT-5-53-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/ccdc1071908d/IJT-5-53-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a10/3746233/67dc78edd516/IJT-5-53-g004.jpg

相似文献

1
Monilethrix with variable expressivity.具有可变表达的念珠状发。
Int J Trichology. 2013 Jan;5(1):53-5. doi: 10.4103/0974-7753.114703.
2
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.常染色体隐性先天性单纯性卷发：三个中国家系中 DSG4 基因的新变异。
Mol Genet Genomic Med. 2022 Apr;10(4):e1889. doi: 10.1002/mgg3.1889. Epub 2022 Feb 11.
3
Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy.兄弟姐妹中呈模式分布的念珠状发：通过毛发镜检查进行诊断。
Int J Trichology. 2010 Jan;2(1):56-9. doi: 10.4103/0974-7753.66918.
4
Monilethrix: A Report of Three Cases in Children Confirmed with Dermoscopy.念珠状发：3例儿童病例经皮肤镜检查确诊的报告
Indian Dermatol Online J. 2020 Jan 13;11(1):65-67. doi: 10.4103/idoj.IDOJ_93_19. eCollection 2020 Jan-Feb.
5
Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome?
Pediatr Dermatol. 2004 Jul-Aug;21(4):486-90. doi: 10.1111/j.0736-8046.2004.21416.x.
6
Value of dermoscopy for the diagnosis of monilethrix.皮肤镜检查在毛发结节病诊断中的价值。
Dermatol Online J. 2017 Jul 15;23(7):13030/qt9hf1p3xm.
7
A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.一例由桥粒芯糖蛋白 4（DSG4）基因新型复合杂合突变引起的毳毛症。
Br J Dermatol. 2011 Aug;165(2):425-31. doi: 10.1111/j.1365-2133.2011.10373.x. Epub 2011 Jul 19.
8
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.
J Invest Dermatol. 1996 Apr;106(4):795-7. doi: 10.1111/1523-1747.ep12346400.
9
[Monilethrix is a hereditary hair shaft disorder].念珠状发是一种遗传性毛干疾病。
Ugeskr Laeger. 2017 Sep 11;179(37).
10
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.一名患有局限性常染色体隐性少毛症的女孩中，DSG4基因出现新型D323G突变，临床上与念珠状发重叠。
Int J Dermatol. 2015 Oct;54(10):1163-8. doi: 10.1111/ijd.12889. Epub 2015 Jul 14.

本文引用的文献

1
Monilethrix in pedigree.系谱中的毛发念珠菌病。
Indian J Dermatol Venereol Leprol. 1996 Nov-Dec;62(6):388-9.
2
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.毛发念珠状发的常染色体隐性形式由DSG4基因突变引起：与局限性常染色体隐性少毛症的临床重叠。
J Invest Dermatol. 2006 Jun;126(6):1292-6. doi: 10.1038/sj.jid.5700251.
3
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.II型毛发角蛋白hHb3中的错义突变与念珠状发有关。
J Med Genet. 2005 Mar;42(3):e19. doi: 10.1136/jmg.2004.021030.
4
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.念珠状发中基础毛发角蛋白hHb1和hHb6新突变的鉴定：对蛋白质结构和临床表型的影响
J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x.
5
Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason).用口服维甲酸Ro 10-9359（替加松）治疗念珠状发。
Clin Exp Dermatol. 1983 Jul;8(4):393-6. doi: 10.1111/j.1365-2230.1983.tb01799.x.