Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study
نویسندگان
چکیده
Background Epidermolysis bullosa simplex (EBS) is the most common type of EB, a group rare genodermatoses. Affected individuals suffer from skin blistering and report high disease burden. In some EBS subtypes, plantar keratoderma (PK) has been described. Objectives This study investigated presence correlation PK with body mass index, pain mobility in EBS. Methods Individuals (n = 157) genetically characterized were included this retrospective cohort study, clinical data collected over 16 years (referral patients to largest German EB centre). Descriptive statistics mixed linear models used assess correlations. Results was found 75.8% beginning at mean age 4.3 years. Both focal diffuse observed, 60% adults localized severe preobese or obese, ˜30% reporting severely reduced mobility. The PK, especially correlated significantly local infections, obesity, requirement wheelchair. Conclusion Along treating fragility blistering, should be considered potential marker increased morbidity may represent target therapy development.
منابع مشابه
Epidermolysis Bullosa Simplex
The EBS subtype can be defined as EBS with blisters within epidermal basal keratinocytes or above, and it is distinguished from other subtypes whose levels of blister formation are deeper (JEB and DEB) or variable (KS). Mutations in several genes have been identified as being responsible for EBS phenotypes. The clinical manifestations of EBS vary greatly depending on the causative genes. Some E...
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The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes, encoding the intermediate filament (IF) network of basal epidermal keratinocytes. The mechanisms governing keratin network formation and collapse due to EBS mutations remain incompletely understood. Drosophila lacks cytoplasmic IFs, providing a 'null' env...
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AIM To report the caries treatment and delivery of a fixed denture for a 3-year-old girl with epidermolysis bullosa simplex (EBS). CASE REPORT EBS is manifested on the skin or mucous membranes where skin separation is easily induced by trauma. Full- mouth rehabilitation under in-patient general anaesthesia was performed to the patient in conjunction with proper pre- and postoperative care. A ...
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BACKGROUND A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful. The aim of the study was to characterize pain in patients with EBS-l and evaluate its impact on quality of life (QoL). Patients were contacted via the Research Group of...
متن کاملEye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry.
PURPOSE To determine the frequency of ocular manifestations in inherited epidermolysis bullosa (EB) within the continental United States and to define the estimated cumulative risks of developing nonscarring (blisters or erosions) and scarring corneal manifestations within each major EB subtype over time. DESIGN Observational (cross-sectional and longitudinal). METHODS Up to 16 years of lon...
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ژورنال
عنوان ژورنال: Journal of The European Academy of Dermatology and Venereology
سال: 2021
ISSN: ['1468-3083', '0926-9959']
DOI: https://doi.org/10.1111/jdv.17336