文献资料 > 色素失禁症
Utility of molecular studies in incontinentia pigmenti patients2014.01.02
在色素失禁症患者中分子生物学效用的研究
根据其典型的临床特征对色素失禁症的诊断是相当容易的,但是在具有局部或者非典型的临床特征的病例中诊断是困难的,特别在父母中。这表明该疾病是由于NEMO基因突变引起的,并且显着提高了对这种疾病的遗传咨询。我们报道了患有IP的四个家庭,分子生物学研究的建立明确的...
Systematic review of central nervous system anomalies in incontinentia pigmenti2014.01.02
色素失禁症患者中枢神经系统异常的系统性综述
本文旨在介绍中枢神经系统(CNS)异常类型的系统性综述,并考虑在色素失禁症(IP)的标准中包含中枢神经系统异常的可能性。分析从1993-2012年间的1,393例IP患者病历。在调查的IP患者中有30.44%的患者被诊断为中枢神经系统异常。每位患者异常的中枢神经系统类型总数为1.6...
Therapeutic use of topical corticosteroids in the vesiculobullous2014.01.02
外用皮质类固醇治疗色素失禁症的水疱性病变
色素失禁症(IP)是由核因子B kappa基本调节基因的突变导致的一种罕见的遗传性皮肤病。由于没有特殊治疗IP的方法,因此一直声称,没有有效的治疗方法以加快解决IP的任何一个阶段。。然而,IP的初始水疱性阶段以嗜酸性粒细胞的炎症反应为组织病理学特征并且采用皮质类固醇...
Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature2014.01.02
患有克氏综合征的色素失禁症男婴:病例报告和文献综述
色素失禁症,也称为布洛赫-苏兹贝格综合征,是一种遗传性的、X-连锁显性疾病,以皮肤、毛发、牙齿、眼睛和中枢神经系统异常为特征。它被认为是一种导致男性胎儿习惯性流产的典型的男性致命性疾病。我们报告的一例罕见的具有色素失禁症典型临床特征的幸存男婴病例,可以通...
Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti2013.12.31
An 18-day-old female infant witha diagnosis of incontinentiapigmenti, which had been confirmedby biopsy findings from a hyperpigmentedbullous skin rush on the anteriorsurface of both lower extremities(Fig. 1), was referred to our clinic forretinal ev...
Incontinentia Pigmenti with a Foreshortened Hand: Evidence for the Significance of NFjB in Human Morphogenesis2013.12.31
The X-linked disorder incontinentia pigmenti (IP) with its welldefinedunderlying defect in the NFjB essential modulator (NEMO) gene andits variability in patients’ phenotypes offers an excellent opportunity forexpanding knowledge of the function of ...
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype2013.12.31
Molecular mechanisms underlying aberrant phenotypes in balanced X;autosome translocations are scarcely understood.We report the case of a de novo reciprocal balanced translocation X;2(q23;q33) presenting phenotypic alterationshighly suggestive of Inc...
Incontinentia pigmenti with ultrastructurally disordered leucocytes2013.12.31
Incontinentia pigmenti (IP) is a rare X-linkedgenodermatosis in which skin changes are combined with anomalies of other tissues, mainly of ectodermalorigin. Mutations of the IKBKG gene are responsible forIP. Haematological disorders among IP patients...
First IKBKG Gene Mutation Study in Serbian Incontinentia Pigmenti Patients2013.12.31
Introduction Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations oftheIKBKG gene are the only knov\/n cause of IP. The presence of other than skin changes is important in thediagnosis of atypical IP cases when skin chang...
Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene2013.12.31
Aim: To describe and evaluate the clinical and molecular findings of patients withincontinentia pigmenti (IP) in Greece.Methods: We examined 12 female patients, initially aged 2 weeks to 7 monthswith clinical diagnosis of IP. Standard tests were perf...
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology2013.12.31
NF-kB Essential MOdulator (NEMO) has been shown to play a critical role in NF-kB activation, as the regulatorysubunit of IkB kinase. Upon cell stimulation, NEMO can be modified through phosphorylation, sumoylationor ubiquitination. In the latter case...
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms2013.12.31
IKBKG/NEMO gene mutations cause an X-linked, dominant neuroectodermal disorder named IncontinentiaPigmenti (IP). Located at Xq28, IKBKG/NEMO has a unique genomic organization, as it is part of a segmental duplication or low copy repeat (LCR1–LCR2, &...
Two male patients with incontinentia pigmenti2013.12.31
Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men. It is estimated that according...
Vaccination as a Probable Cause of Incontinentia Pigmenti Reactivation2013.12.31
We report a female infant with recurrent biopsy-proven vesicobullous incontinentia pigmenti occurring after her 12-month and 18-month immunizations. To our knowledge, incontinentia pigmenti vesicobullous recurrence following immunizations has not bee...
Skin ulcer mimicking pyoderma gangrenosum in a patient with incontinentia pigmenti2013.12.31
Incontinentia pigmenti is an X-linked dominant genodermatosis caused by a mutation in the NEMO gene encoding the nuclear factor (NF)-jB essential modulator. The skin lesion occurs in four stages: erythema, then vesicles and pustules; verrucous lesion...
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