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Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population

Health 2010年第12期2卷 1345-1348页

作者： Chang-Xing Li Quan Luo Xue-Mei Li Xi-Bao Zhang Chun-Lei Han Ze-Lin Ma Dong-Zi Lin Department of Dermatology Dongguan Institute of Dermatology Dongguan China

Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom? MassARRAY? system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.

关键词： ichthyosis Vulgaris Southern Chinese Population Filaggrin Mutation

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X linked recessive ichthyosis: Current concepts

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World Journal of Dermatology 2015年第3期4卷 129-134页

作者： Jaime Toral-López Luz María González-Huerta Sergio A Cuevas-Covarrubias Departamento de Genética Médica Centro Médico Ecatepec Instituto de Seguridad Social del Estado de México y Municipios Ecatepec Estado de México CP 55000 México Departamento de Genética Médica Hospital General de México/Facultad de Medicina Universidad Nacional Autónoma de México Ciudad de México CP 06726 México

In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.

关键词： STS gene X-linked ichthyosis Steroid sulfatase Gene deletion Contiguous gene syndrome Genodermatosis

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A Case of Complete Neu-Laxova Syndrome: Report and Literature Review

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Open Journal of Obstetrics and Gynecology 2020年第3期10卷 341-347页

作者： Bouchra Fakhir Oussama Rachid Amal Ait Benhassi Nisrine Aboussair Abderraouf Soummani Department of Gynecology & Obstetrics University Hospital Mohammed VI Cadi Ayyad University Marrakech Morocco Department of Genetics Clinical Research Center University Hospital Mohammed VI Cadi Ayyad University Marrakech Morocco

Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early fatal disease. It is a complex entity that includes intrauterine growth retardation, abnormal facial structure, limb and skeletal abnormalities, and ichthyosis and severe malformations of the central nervous system. We report a rare case of recurrence of Neu-Laxova syndrome in a 32-year-old pauciparous woman, which occurred after a first cousin’s consanguineous marriage. Typical ultrasound findings included hydramnios, severe intrauterine growth restriction, craniofacial and central nervous system abnormalities such as ventriculomegaly. The newborn shows a terrible face with a usual craniofacial aspect, eyeball proptosis, puffy hands and feet, large bilateral cleft lip/palate, severe hall body ichthyosis. The overcome was fatal, the death occurred in less than one hour after birth. Consanguinity remains the most implicated cause which is high in developing countries. Prenatal serial ultrasound examinations with genetic counselling should be performed on high-risk pregnant women to terminate affected pregnancies.

关键词： eu-Laxova Syndrome ichthyosis Growth Retardation Microcephaly Polymalfomations

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Use of two combination creams for the treatment of ichthyoses and ichthyosiform disorders

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Drug Combination Therapy 2023年第2期5卷 7-12页

作者： Samar Khalil Serena Saade Divina Justina Hasbani Carla Stephan Tara Bardawil Adele Chedraoui Ossama Abbas Nelly Rubeiz Mazen Kurban Department of Dermatology American University of BeirutBeirut 110236Lebanon Department of Biochemistry and Molecular Genetics American University of BeirutBeirut 110236Lebanon

Treatment options for ichthyosis and ichthyosiform disorders are limited and often ***-four patients used combination creams of 2%cholesterol with 2%lovastatin,and 10%glycolic acid with 0.025% tretinoin and 2%ketoconazole *** one month(n=20),the average percent reduction in severity scores was 40%,and at three months(n=10),it was 60.3%.Side effects were mainly mild *** findings suggest that these two combination creams could be beneficial in the treatment of ichthyosiform disorders.

关键词： ichthyosis ichthyosiform disorders cholesterol statin tretinoin

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