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Articles by C. Has
Epidermolysis Bullosa: Fragile Skin, Fragile Hope
No abstract is available for this article. Disclosure No AI was used to generate ideas, text, or references. Grammarly was used only for grammar and syntax improvement. Conflicts of Interest The author declares no conflicts of interest. Data Availability Statement Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.
Epidermolysis Bullosa: Fragile Skin, Fragile Hope
No abstract is available for this article. Disclosure No AI was used to generate ideas, text, or references. Grammarly was used only for grammar and syntax improvement. Conflicts of Interest The author declares no conflicts of interest. Data Availability Statement Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.
Secukinumab for the treatment of SAM syndrome associated with desmoglein‐1 deficiency
Research letter C. Has Corresponding Author cristina.has@uniklinik-freiburg.de orcid.org/0000-0001-6066-507X Department of Dermatology, Medical Center ‐ University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany Correspondence: Cristina Has.
Notice of withdrawal
Abstract L. Frommherz, J. Küsel, A. Zimmer, J. Fischer, C. Has.
大疱性表皮松解症诊断的新指南
Summary 大疱性表皮松解症 (EB) 是一类罕见的遗传性疾病,其皮肤比平常更脆弱,外界力量(如轻伤或擦伤)会导致水泡或溃疡,愈合可能缓慢,并经常留下疤痕。EB 包含四种主要类型,包括 30 多种亚型。诊断基于临床表现,即其外观、遗传方式、皮肤分裂程度和遗传缺陷。 来自世界各国的一组专家代表慈善机构 DEBRA International 制定了这些指南,以提供有关 EB 的实验室诊断的信息。 在公共数据库中查找出版物(即已在期刊上发表的有关 EB 的科学研究)。对六十四篇论文进行了评估,并对其质量进行了评价。 基于此,作者提出以下建议:如果怀疑患有 EB,在知情同意后,始终需要进行实验室诊断。如果可获得且可负担得起,则应进行基因 (DNA) 检测和皮肤样本分析(通过称为免疫荧光的过程),以进行全面诊断。但是,这并不总是可能的。确定优先级可以缩短诊断时间并节省资源,但需要专业知识。例如,在新生儿中,分析皮肤样本应该是诊断第一步,因为它可以在几天内得出结果。同时,应始终进行基因检测。如果 EB...
New guidelines for the diagnosis of epidermolysis bullosa
Summary Epidermolysis bullosa (EB) is a group of rare inherited disorders in which the skin is more fragile than usual, and outside forces like minor injury or rubbing cause blisters or ulcers that may be slow to heal and often leave scars. EB comprises four main types, with more than 30 subtypes. The diagnosis is based on clinical manifestations, meaning how it looks, mode of inheritance, level of skin splitting and the genetic defect.
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Summary Background Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB). Objectives We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data. Methods This was a consensus expert review.
Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis - Frommherz - - British Journal of Dermatology - Wiley Online Library
The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Case Report Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis C. Has Corresponding Author E-mail address: cristina.has@uniklinik-freiburg.de Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany Correspondence Prof.
Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis
Keratinopathic ichthyoses are rare keratinization disorders associated with monoallelic pathogenic variants in the genes encoding keratins 1, 2 or 10.1 Keratins are major intermediate filament proteins within the cytoskeleton of epithelial cells. Mutations in genes encoding these keratins lead to keratin clumping and promote cytolysis within the suprabasal epidermis.2 The group of keratinopathic ichthyoses can be divided into major and minor variants.
Chronic tissue damage: a common pathomechanism of genodermatoses - Has - - British Journal of Dermatology - Wiley Online Library
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Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis
Guidelines Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis C. Has Corresponding Author E-mail address: cristina.has@uniklinik-freiburg.de Department of Dermatology, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Germany Correspondence: Cristina Has Department of Dermatology, University Medical Center Freiburg, Faculty of Medicine, Freiburg, Germany Hauptstr.
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Has - - British Journal of Dermatology - Wiley Online Library
Guidelines Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa C. Has Corresponding Author E-mail address: cristina.has@uniklinik-freiburg.de https://orcid.org/0000-0001-6066-507X Department of Dermatology, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany Correspondence Cristina Has.
Postzygotic HRAS mutation in heterochromia of straight scalp hair
Research Letter Postzygotic HRAS mutation in heterochromia of straight scalp hair C. Has Corresponding Author E-mail address: cristina.has@uniklinik-freiburg.de Department of Dermatology, Medical Center ‐ University of Freiburg, Faculty of Medicine Freiburg, Germany Correspondence Prof.
Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations
The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Research Letter Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations C. Has Corresponding Author E-mail address: cristina.has@uniklinik-freiburg.de Department of Dermatology, Medical Center ‐ University of Freiburg, Faculty of Medicine Freiburg, Germany Correspondence Prof.
Multiple facets of desmoglein 1 mutations
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A case of mosaicism in ectodermal dysplasia - skin fragility syndrome
Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells.
Mosaicism in the skin: lumping or splitting?
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