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71.
72.
8岁女性患儿,因间断咳嗽、发热3年余,再发1月余入院。近1年反复出现口腔黏膜溃疡。体格检查发现右上背部皮肤色素脱失。外院多次查血常规和免疫功能正常。多次肺部CT提示肺部感染病灶,经抗感染治疗,发热咳嗽仍反复,右肺部病变持续存在,抗结核治疗无效。多次血常规检查发现粒细胞缺乏,行基因检测,确定为RTEL1基因纯合突变所致先天性角化不良(DC)。RTEL1基因突变的先天性角化不良患者易出现肺部并发症。由于RTEL1基因序列有高度可变性,突变位点很多,突变方式多样,且可以通过常染色体显性或隐性遗传方式遗传,因此其临床表现多样,易致漏诊及误诊。对不明原因反复肺部感染的患儿,应注意口腔、皮肤和指趾甲的检查并监测血常规以排除DC。DC目前无特效治疗,出现骨髓衰竭和肺功能衰竭时,造血干细胞移植和肺移植是目前唯一的治疗方法,雄激素及其衍生物对部分病人有效,针对端粒途径的靶向药物有望给DC患者带来希望。 相似文献
73.
Pc Ng Ch Lee KF To TF Fok KW So W Wong & KL Cheung 《Journal of paediatrics and child health》1999,35(3):306-308
A severe case of aplasia cutis congenita in a preterm infant is described. Although major problems with thermoregulation and fluid balance were anticipated, these parameters were relatively easy to control once the patient was stabilized. Meticulous skin care and rapid formation of a membranous-like fibrous tissue layer covering the denuded areas probably played an important role in minimizing excessive fluid and heat loss. The prognosis in aplasia cutis congenita is determined by the underlying associated anomalies, the severity of skin lesions and, in our case, the maturity of the infant who died from complications of prematurity. 相似文献
74.
C. de Diego J. Gámez E. Plassart-Schiess A. Lasa E. Del Río C. Cervera M. Baiget P. Gallano B. Fontaine 《Journal of neurology》1999,246(9):825-829
Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene,
after clinical, electromyographic, and genetic studies performed on 13 unrelated families. Two of the four mutations (2512insCTCA
and A218T) were identified in families with Thomsen’s disease, one (Q658X) in a family with Becker’s disease, and the fourth
(R669C) in a presumably sporadic patient with the Becker phenotype. Although identification of the mutations allows us to
establish some genotype/phenotype correlations, this does not wholly account for the clinical heterogenity and the inheritance
patterns of the disease.
Received: 27 June 1998 Received in revised form: 11 November 1998 Accepted: 16 November 1998 相似文献
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76.
M. Michael Cohen 《American journal of medical genetics. Part A》1999,84(4):311-315
Robin sequence has been the subject of numerous general papers and has also been cited in specific syndrome articles. Evidence is provided that the condition is not only causally heterogeneous but also pathogenetically and phenotypically variable, necessitating the use of the terms “Robin sequences” and “Robin complexes.” Am. J. Med. Genet. 84:311–315, 1999. © 1999 Wiley-Liss, Inc. 相似文献
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A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?
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Müzeyyen Gönül MD Ülker Gül MD Arzu Kılıç MD Seçil Soylu MD Oğuzhan Koçak MD Murat Demiriz MD 《International journal of dermatology》2015,54(3):334-337
A 30‐year‐old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh‐colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow‐up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita. 相似文献
80.
Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome. 相似文献