Phenotypic expansion in ichthyosis with confetti.
作者信息
Choate Keith A, Milstone Leonard M
机构信息
Department of Pathology, Yale School of Medicine, New Haven, Connecticut2Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.
Department of Dermatology, Yale School of Medicine, New Haven, Connecticut.
出版信息
JAMA Dermatol. 2015 Jan;151(1):15-6. doi: 10.1001/jamadermatol.2014.2525.
Abstract
摘要
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本文引用的文献
1
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.鱼鳞病患者中的有丝分裂重组导致 KRT10 显性突变的回复。
Science. 2010 Oct 1;330(6000):94-7. doi: 10.1126/science.1192280. Epub 2010 Aug 26.
2
Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature.先天性网状鱼鳞病样红皮病——斑驳状鱼鳞病：一例报告并文献复习
Acta Derm Venereol. 2003;83(1):36-9. doi: 10.1080/00015550310002684.
3
Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata).先天性网状鱼鳞病样红皮病（斑驳性鱼鳞病）中出现的异常色素沉着。
Br J Dermatol. 1998 Nov;139(5):893-6. doi: 10.1046/j.1365-2133.1998.02521.x.
4
Skin cancer associated with ichthyosis: the MAUIE syndrome.与鱼鳞病相关的皮肤癌：毛伊综合征。
J Am Acad Dermatol. 1997 Dec;37(6):1000-2. doi: 10.1016/s0190-9622(97)70084-7.
5
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.有丝分裂基因转换导致的大疱性表皮松解症中的回复性镶嵌现象。
Cell. 1997 Feb 21;88(4):543-51. doi: 10.1016/s0092-8674(00)81894-2.
6
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.角质化细胞包膜的主要成分兜甲蛋白中的分子缺陷是Vohwinkel综合征的基础。
Nat Genet. 1996 May;13(1):70-7. doi: 10.1038/ng0596-70.
7
A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'.一例先天性网状鱼鳞病样红皮病——“五彩纸屑”样鱼鳞病。
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Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis.先天性鱼鳞病患者皮肤癌发病率增加。
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[Confetti ichthyosis].[落叶状鱼鳞病]
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[Congenital reticular ichthyosiform erythroderma].[先天性网状鱼鳞病样红皮病]
Hautarzt. 1984 Oct;35(10):522-9.
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