Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys
| Autor: | Daisuke Tsuruta, Takashi Hashimoto, Takaya Fukumoto, Chiharu Tateishi, Sachiko Sakaguchi, Hiromi Kobayashi, Masamitsu Ishii, Yuko Obase, Airo Tsubura, Junko Sowa, Takahiro Hamada |
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| Rok vydání: | 2011 |
| Předmět: |
chemistry.chemical_classification
medicine.medical_specialty Keratin 14 integumentary system Acantholysis macromolecular substances Dermatology General Medicine medicine.disease Keratin 1 Molecular biology Keratin 5 Epidermolysis bullosa simplex chemistry Spinous cell Keratin medicine Epidermolysis bullosa |
| Zdroj: | The Journal of Dermatology. 38:1177-1179 |
| ISSN: | 0385-2407 |
| DOI: | 10.1111/j.1346-8138.2011.01302.x |
| Popis: | Epidermolysis bullosa (EB) is a group of hereditary autosomal dominant bullous diseases. EB is divided into four major phenotypes: intraepidermal EB (or EB simplex), junctional EB, dermolytic EB and mixed EB (Kindler syndrome). EB simplex is further divided into three subtypes: localized EB simplex, Dowling-Meara EB simplex and other generalized EB simplex. We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p.Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells. Immunohistochemistry revealed that the broader expression of keratin 5 and 14 was observed in the epidermis, while the expression of keratin 1/10 was quite normal. Dysregulated expression of keratin 5/14 may hinder some functions or roles of keratin 1/10, namely filament assembly of keratin 1/10 in spinous cell integrity, although the expression of keratin 1/10 was not affected and this has not been demonstrated before. |
| Databáze: | OpenAIRE |
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