A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn
نویسندگان
چکیده
Epidermolysis bullosa is a rare genetic skin disease in which easily peels off and blisters are formed with mild mechanical trauma. It classified into simple, borderline, dysmorphic, mixed type. These four subtypes further according to the location of gene mutation patterns. simplex (EBS) characterized by separation epidermal or subepidermal layer. And it mostly caused keratin 5 (KRT5) KRT14 genes. Recently, test has become increasingly important for diagnosis, confirming counseling. there moderate correlation exists between EBS phenotype genotype. Here, we report case 2-day-old boy Dowling-Meara type (EBS-DM) diagnosed analysis KRT14.
منابع مشابه
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
Epidermolysis bullosa simplex (EBS) is caused by defective assembly of keratin intermediate filaments in basal keratinocytes and recent studies indicated causal mutations in the keratin KRT5 and KRT14 genes. In this study, we describe a novel KRT5 mutation in a German sporadic case of EBS Dowling-Meara. Transition of G to T (nucleotide position 2334) leads to a premature stop codon (E477stop, r...
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ژورنال
عنوان ژورنال: Neonatal medicine
سال: 2022
ISSN: ['2287-9412', '2287-9803']
DOI: https://doi.org/10.5385/nm.2022.29.4.130