ICHTHYOSIS

作品数：7被引量：4H指数：1
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相关机构：重庆医科大学更多>>
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Borderline lepromatous leprosy:A case report
《Asian Pacific Journal of Tropical Medicine》2024年第7期329-332,共4页Nilshan Fernando Chiranthi Welhenge Ranjan Premaratna Ahamed Uwyse 
Rationale:Lepromatous leprosy can have many atypical presentations,obscuring early diagnosis.We present a case of lepromatous leprosy,presenting with atypical features,which made a diagnostic dilemma.Patient concerns:...
关键词：Lepromatous leprosy HEPATOSPLENOMEGALY HEMOPHAGOCYTOSIS PANCYTOPENIA ICHTHYOSIS 
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
《Pediatric Investigation》2023年第3期168-176,共9页Zhou Yang Zhe Xu Rui He Xin Xiang Bin Zhang Lin Ma 
Importance:Keratinopathic ichthyosis(KPI)represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1,KRT2,or KRT10 genes.In KPI,the relationship between genotype and phen...
关键词：Epidermolytic ichthyosis Ichthyosis with confetti Keratinopathic ichthyosis KRT1 KRT10 KRT2 
Use of two combination creams for the treatment of ichthyoses and ichthyosiform disorders
《Drug Combination Therapy》2023年第2期7-12,共6页Samar Khalil Serena Saade Divina Justina Hasbani Carla Stephan Tara Bardawil Adele Chedraoui Ossama Abbas Nelly Rubeiz Mazen Kurban 
Treatment options for ichthyosis and ichthyosiform disorders are limited and often unsatisfactory.Twenty-four patients used combination creams of 2%cholesterol with 2%lovastatin,and 10%glycolic acid with 0.025% tretin...
关键词：ICHTHYOSIS ichthyosiform disorders CHOLESTEROL STATIN TRETINOIN 
Consanguinity and Occurrence of Genetic Disorders in District Attock
《China-USA Business Review》2023年第1期20-27,共8页Ummara Rafi Sohail Hameed Naheed Malik Mariam Awan Shahid Baig Uzma Abdullah 
Consanguineous marriages are the marriages between blood relatives;nevertheless,it can also be referred as unions between second cousins or closer by the geneticists.Consanguinity increases the risk of congenital anom...
关键词：CONSANGUINITY NDM(Neuromuscular Disorder) MR(Mental Retardation) MICROCEPHALY EPILEPSY ICHTHYOSIS 
A Case of Complete Neu-Laxova Syndrome: Report and Literature Review被引量：1
《Open Journal of Obstetrics and Gynecology》2020年第3期341-347,共7页Bouchra Fakhir Oussama Rachid Amal Ait Benhassi Nisrine Aboussair Abderraouf Soummani 
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 ic...
关键词：eu-Laxova SYNDROME ICHTHYOSIS Growth RETARDATION MICROCEPHALY Polymalfomations 
X linked recessive ichthyosis: Current concepts
《World Journal of Dermatology》2015年第3期129-134,共6页Jaime Toral-López Luz María González-Huerta Sergio A Cuevas-Covarrubias 
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. Hi...
关键词：STS GENE X-LINKED ICHTHYOSIS Steroid SULFATASE GENE deletion Contiguous GENE syndrome GENODERMATOSIS 
Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population被引量：3
《Health》2010年第12期1345-1348,共4页Chang-Xing Li Quan Luo Xue-Mei Li Xi-Bao Zhang Chun-Lei Han Ze-Lin Ma Dong-Zi Lin 
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 eval...
关键词：ICHTHYOSIS VULGARIS SOUTHERN Chinese Population FILAGGRIN Mutation 
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