The clinical spectrum of epidermolysis bullosa simplex
| Autor: | H.M. Horn, M.J. Tidman |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Adolescent Dermatology Aplasia cutis congenita Epidermolysis bullosa simplex Immunopathology Clinical information Humans Medicine Age of Onset Acral blistering Child Skin business.industry Infant Newborn Mouth Mucosa Infant medicine.disease Oral blistering Pedigree Phenotype Child Preschool Epidermolysis Bullosa Simplex Disease Progression Female Epidermolysis bullosa Age of onset medicine.symptom business |
| Zdroj: | British Journal of Dermatology. 142:468-472 |
| ISSN: | 1365-2133 0007-0963 |
| Popis: | As part of the U.K. National Epidermolysis Bullosa Register, we have systematically recorded clinical information on 130 (77%) of the 168 known Scottish epidermolysis bullosa simplex (EBS) sufferers. Three subtypes of EBS were recognized: Dowling–Meara (EBS-DM), Weber–Cockayne (EBS-WC) and Köbner (EBS-Kb), seen in 5%, 42% and 53% of patients, respectively. As there is considerable overlap between EBS-WC and EBS-Kb, with both phenotypes frequently seen within the same pedigree, EBS-WC is best regarded as a milder variant of EBS-Kb rather than a separate disorder. Improvement with age is common in all variants of EBS, but is not invariable. Pain due to acral blistering in EBS-Kb/EBS-WC has a more marked impact on life-style than the blisters of EBS-DM. Oral blistering, nail involvement and aplasia cutis congenita occur in all EBS subtypes and laryngeal involvement is a feature of EBS-DM. Seasonal variation is not seen in EBS-DM but is common in EBS-Kb/EBS-WC. |
| Databáze: | OpenAIRE |
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