التفاصيل البيبلوغرافية
| العنوان: |
Burnlike scars: A sign suggestive of KLHL24‐related epidermolysis bullosa simplex. |
| المؤلفون: |
Alkhalifah, Azzam, Chiaverini, Christine, Charlesworth, Alexandra, Has, Cristina, Lacour, Jean‐Philippe |
| المصدر: |
Pediatric Dermatology; May2018, Vol. 35 Issue 3, pe193-e195, 3p, 2 Color Photographs |
| مصطلحات موضوعية: |
EPIDERMOLYSIS bullosa, SCARS, HETEROGENEITY, SKIN permeability, GENETIC mutation, GENE expression, KERATINOCYTE differentiation, GENETICS, THERAPEUTICS |
| مستخلص: |
Abstract: Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24‐related epidermolysis bullosa simplex and highlight the burn‐like pattern of scars. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
