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同胞中患有伴有异常毛干异常的鱼鳞病。

Ichthyosis with unusual hair shaft abnormalities in siblings.

作者信息

Yesudian P, Srinivas K

出版信息

Br J Dermatol. 1977 Feb;96(2):199-203. doi: 10.1111/j.1365-2133.1977.tb12544.x.

DOI:10.1111/j.1365-2133.1977.tb12544.x
PMID:843456
Abstract

An autosomal recessive disorder characterized by lamellar ichthyosis, an usual structural defect of the scalp hairs and amino aciduria occurred in two siblings in a South Indian family in Madras. In addition the female sibling was physically and mentally retarded. The disorder differs from typical Netherton's syndrome in several ways. The hair abnormality specific for this disorder appears to be splitting of the shaft. The possible mechanism of production of the split hairs is discussed.

摘要

一种常染色体隐性疾病,其特征为板层状鱼鳞病、头皮毛发常见的结构缺陷和氨基酸尿症,在马德拉斯的一个南印度家庭的两名同胞中出现。此外,女性同胞存在身体和智力发育迟缓的情况。该疾病在几个方面与典型的 Netherton 综合征不同。这种疾病特有的毛发异常似乎是毛干分裂。文中讨论了产生分裂毛发的可能机制。

相似文献

1
Ichthyosis with unusual hair shaft abnormalities in siblings.同胞中患有伴有异常毛干异常的鱼鳞病。
Br J Dermatol. 1977 Feb;96(2):199-203. doi: 10.1111/j.1365-2133.1977.tb12544.x.
2
[Netherton's syndrome. Ichthyosis-like changes in the skin and trichorrhexis invaginata. Demonstration of pathologically changed cortex keratin in the hair].
Hautarzt. 1971 Sep;22(9):397-409.
3
Helical hairs: a new hair anomaly in a patient with Netherton's syndrome.螺旋状毛发: Netherton综合征患者的一种新的毛发异常。
Cutis. 1995 Jun;55(6):349-52.
4
Ichthyosis linearis circumflexa Comèl with Trichorrhexis invaginata (Netherton's Syndrom): an ultrastructural study of the skin changes.
Arch Dermatol Forsch. 1972;245(1):42-9. doi: 10.1007/BF00596151.
5
Nertherton's syndrome.讷瑟顿综合征。
Cutis. 1980 Aug;26(2):185-8, 191.
6
Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa.Netherton病中毛干的多种缺陷。与线状回旋性鱼鳞病相关。
Br J Dermatol. 1969 Nov;81(11):851-7. doi: 10.1111/j.1365-2133.1969.tb15956.x.
7
[Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings].
Hautarzt. 1981 Feb;32(2):67-74.
8
Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings.Netherton综合征:一种IgE升高以及有特征性皮肤和毛发表现的综合征。
J Allergy Clin Immunol. 1995 Jan;95(1 Pt 1):116-23. doi: 10.1016/s0091-6749(95)70159-1.
9
[Netherton's syndrome in two sisters].
Ned Tijdschr Geneeskd. 2002 Jun 8;146(23):1087-90.
10
Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs.Netherton综合征:通过检查眉毛毛发增加诊断可能性。
Br J Dermatol. 1999 Sep;141(3):544-6. doi: 10.1046/j.1365-2133.1999.03056.x.

引用本文的文献

1
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.一个近亲家庭中,ST14基因上一个导致疾病的新型错义突变是常染色体隐性遗传鱼鳞病伴少毛症综合征的病因。
Eur J Dermatol. 2018 Apr 1;28(2):209-216. doi: 10.1684/ejd.2017.3210.
2
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.由编码II型跨膜丝氨酸蛋白酶matriptase的ST14突变引起的伴有少毛症的常染色体隐性鱼鳞病。
Am J Hum Genet. 2007 Mar;80(3):467-77. doi: 10.1086/512487. Epub 2007 Jan 23.