Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study
Abstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural history of RDEB we explored features of itch, medicati...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02817-z |
| _version_ | 1797451580698525696 |
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| author | Jemima E. Mellerio Elizabeth I. Pillay Lesedi Ledwaba-Chapman Alessandra Bisquera Susan J. Robertson Marieta Papanikolaou John A. McGrath Yanzhong Wang Anna E. Martinez Eunice Jeffs |
| author_facet | Jemima E. Mellerio Elizabeth I. Pillay Lesedi Ledwaba-Chapman Alessandra Bisquera Susan J. Robertson Marieta Papanikolaou John A. McGrath Yanzhong Wang Anna E. Martinez Eunice Jeffs |
| author_sort | Jemima E. Mellerio |
| collection | DOAJ |
| description | Abstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural history of RDEB we explored features of itch, medications used, and correlation with disease severity and quality of life. Methods Fifty individuals with RDEB aged 8 years and above completed the Leuven Itch Scale (LIS) (total 243 reviews over a 7-year period). Data included itch frequency, severity, duration, distress, circumstances, consequences, itch surface area and medications for itch. The iscorEB disease severity score and the validated EB quality of life tool, QOLEB, were compared to LIS domains and analysed by RDEB subtype. Results Itch was frequent, present in the preceding month in 93% of reviews. Itch severity and distress were significantly greater in severe (RDEB-S) and pruriginosa (RDEB-Pru) subtypes compared to intermediate RDEB (RDEB-I). Itch medications were reported in just over half of reviews including emollients, topical corticosteroids and antihistamines; the proportion of participants not using medication despite frequent pruritus suggests limited efficacy. In inversa RDEB (RDEB-Inv) and RDEB-I, LIS domains correlated with iscorEB and QOLEB. In contrast to previous studies, correlations were lacking in RDEB-S suggesting that global disease burden relatively reduces the contribution of itch. Conclusions This comprehensive study of RDEB-associated itch highlights differences between RDEB subtypes, suggests an unmet need for effective treatments and could serve as control data for future clinical trials incorporating itch as an endpoint. |
| first_indexed | 2024-03-09T14:55:44Z |
| format | Article |
| id | doaj.art-fffd1c42edb4449fa70ef4bb51e829bf |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-09T14:55:44Z |
| publishDate | 2023-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-fffd1c42edb4449fa70ef4bb51e829bf2023-11-26T14:12:35ZengBMCOrphanet Journal of Rare Diseases1750-11722023-08-0118111010.1186/s13023-023-02817-zItch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register studyJemima E. Mellerio0Elizabeth I. Pillay1Lesedi Ledwaba-Chapman2Alessandra Bisquera3Susan J. Robertson4Marieta Papanikolaou5John A. McGrath6Yanzhong Wang7Anna E. Martinez8Eunice Jeffs9St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation TrustSt John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation TrustDepartment of Population Health Sciences, King’s College LondonDepartment of Population Health Sciences, King’s College LondonDepartments of Dermatology, The Royal Children’s Hospital, The Royal Melbourne Hospital and Monash HealthGenetic Skin Disease Group, King’s College LondonGenetic Skin Disease Group, King’s College LondonDepartment of Population Health Sciences, King’s College LondonDepartment of Dermatology, Great Ormond Street Hospital for Children NHS Foundation TrustSt John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation TrustAbstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural history of RDEB we explored features of itch, medications used, and correlation with disease severity and quality of life. Methods Fifty individuals with RDEB aged 8 years and above completed the Leuven Itch Scale (LIS) (total 243 reviews over a 7-year period). Data included itch frequency, severity, duration, distress, circumstances, consequences, itch surface area and medications for itch. The iscorEB disease severity score and the validated EB quality of life tool, QOLEB, were compared to LIS domains and analysed by RDEB subtype. Results Itch was frequent, present in the preceding month in 93% of reviews. Itch severity and distress were significantly greater in severe (RDEB-S) and pruriginosa (RDEB-Pru) subtypes compared to intermediate RDEB (RDEB-I). Itch medications were reported in just over half of reviews including emollients, topical corticosteroids and antihistamines; the proportion of participants not using medication despite frequent pruritus suggests limited efficacy. In inversa RDEB (RDEB-Inv) and RDEB-I, LIS domains correlated with iscorEB and QOLEB. In contrast to previous studies, correlations were lacking in RDEB-S suggesting that global disease burden relatively reduces the contribution of itch. Conclusions This comprehensive study of RDEB-associated itch highlights differences between RDEB subtypes, suggests an unmet need for effective treatments and could serve as control data for future clinical trials incorporating itch as an endpoint.https://doi.org/10.1186/s13023-023-02817-zEpidermolysis bullosaItchNatural historyQuality of lifeDisease severity |
| spellingShingle | Jemima E. Mellerio Elizabeth I. Pillay Lesedi Ledwaba-Chapman Alessandra Bisquera Susan J. Robertson Marieta Papanikolaou John A. McGrath Yanzhong Wang Anna E. Martinez Eunice Jeffs Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study Orphanet Journal of Rare Diseases Epidermolysis bullosa Itch Natural history Quality of life Disease severity |
| title | Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study |
| title_full | Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study |
| title_fullStr | Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study |
| title_full_unstemmed | Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study |
| title_short | Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study |
| title_sort | itch in recessive dystrophic epidermolysis bullosa findings of pebles a prospective register study |
| topic | Epidermolysis bullosa Itch Natural history Quality of life Disease severity |
| url | https://doi.org/10.1186/s13023-023-02817-z |
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