| [1] |
Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility[J]. Br J Dermatol, 2020, 183(4): 614-627.
doi: 10.1111/bjd.v183.4
|
| [2] |
Khanna D, Bardhan A. Epidermolysis Bullosa. In: StatPearls[EB/OL]. Treasure Island (FL): StatPearls Publishing; 2025 [2023-11-21]. https://www.ncbi.nlm.nih.gov/books/NBK470362.
|
| [3] |
Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa[J]. Nat Rev Dis Primers, 2020, 6(1): 78.
doi: 10.1038/s41572-020-0210-0
pmid: 32973163
|
| [4] |
刘子源, 申云, 董铭菲, 等. 大疱性表皮松解症的遗传学和治疗方法研究进展[J]. 生命科学, 2024, 36(2): 212-225.
|
|
Liu ZY, Shen Y, Dong MF, et al. Research progress in genetics and treatment methods of epidermolysis bullosa[J]. Shengming Kexue, 2024, 36(2): 212-225.
|
| [5] |
Mellerio JE, Kiritsi D, Marinkovich MP, et al. Mapping the burden of severe forms of epidermolysis bullosa: implications for patient management[J]. JAAD Int, 2023, 11: 224-232.
doi: 10.1016/j.jdin.2023.02.016
|
| [6] |
Bruckner AL, Losow M, Wisk J, et al. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers[J]. Orphanet J Rare Dis, 2020, 15(1): 1.
doi: 10.1186/s13023-019-1279-y
pmid: 31900176
|
| [7] |
Danescu S, Negrutiu M, Has C. Treatment of epidermolysis bullosa and future directions: a review[J]. Dermatol Ther (Heidelb), 2024, 14(8): 2059-2075.
doi: 10.1007/s13555-024-01227-8
|
| [8] |
中华人民共和国国家卫生健康委员会. 罕见病诊疗指南(2019年版) [EB/OL]. (2019-02-27) [2025-08-11]. https://www.nhc.gov.cn/yzygj/c100068/201902/073540e8f83b4a54a28684d23e2ae2f5/files/1732871139221_41526.pdf.
|
|
National Health Commission of the People's Republic of China. Guidelines for the Diagnosis and Treatment of Rare Diseases (2019 Edition)[EB/OL]. (2019-02-27) [2025-08-11]. https://www.nhc.gov.cn/yzygj/c100068/201902/073540e8f83b4a54a28684d23e2ae2f5/files/1732871139221_41526.pdf.
|
| [9] |
蝴蝶宝贝关爱中心. [EB/OL]. [2025-08-11]. https://www.debra.org.cn.
|
|
Debra China. [EB/OL]. [2025-08-11]. https://www.debra.org.cn.
|
| [10] |
Fine JD, Johnson LB, Weiner M, et al. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006 [J]. J Am Acad Dermatol, 2009, 60(2): 203-211.
doi: 10.1016/j.jaad.2008.09.035
pmid: 19026465
|
| [11] |
Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa[EB/M]. [2018-12-20]. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2025. 2008.
|
| [12] |
Chen F, Wei R, Deng D, et al. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China[J]. J Eur Acad Dermatol Venereol, 2023, 37(2): 411-419.
doi: 10.1111/jdv.v37.2
|
| [13] |
Chen F, Huang L, Li C, et al. Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population[J]. Clin Genet, 2020, 98(2): 179-184.
doi: 10.1111/cge.13791
pmid: 32484238
|
| [14] |
EB Research Network. What is EB? [EB/OL]. 2025-08-11 [2025-08-11]. https://www.eb-researchnetwork.org/research/what-is-eb.
|
| [15] |
陈劼, 吕军, 周迎春, 等. 遗传性大疱性表皮松解症367例问卷调查[J]. 中华皮肤科杂志, 2020, 53(2): 136-138.
|
|
Chen J, Lyu J, Zhou YC, et al. A questionnaire survey of 367 patients with inherited epidermolysis bullosa[J]. Zhonghua Pifuke Zazhi, 2020, 53(2): 136-138.
|
| [16] |
Tang JY, Marinkovich MP, Lucas E, et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa[J]. Orphanet J Rare Dis, 2021, 16(1): 175.
doi: 10.1186/s13023-021-01811-7
pmid: 33849616
|
| [17] |
Eng VA, Solis DC, Gorell ES, et al. Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey[J]. J Am Acad Dermatol, 2021, 85(5): 1161-1167.
doi: 10.1016/j.jaad.2020.03.028
pmid: 32199895
|
| [18] |
Teng C, Solis D, Tang J, et al. Natural history of wounds in patients with recessive dystrophic epidermolysis bullosa[J]. Investig Dermatol, 2019, 139(5): S43.
|
| [19] |
Montaudie H, Chiaverini C, Sbidian E, et al. Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases[J]. Orphanet J Rare Dis, 2016, 11(1): 117.
doi: 10.1186/s13023-016-0489-9
pmid: 27544590
|
| [20] |
Kim M, Li M, Intong-Wheeler L, et al. Epidemiology and outcome of squamous cell carcinoma in epidermolysis bullosa in Australia and New Zealand[J]. Acta Derm Venereol, 2018, 98(1): 70-76.
doi: 10.2340/00015555-2781
|
| [21] |
Kern JS, Schwieger-Briel A, Lowe S, et al. Oleogel-S10 Phase 3 study "EASE" for epidermolysis bullosa: study design and rationale[J]. Trials, 2019, 20(1): 350.
doi: 10.1186/s13063-019-3362-z
pmid: 31186047
|
| [22] |
Schwieger-Briel A, Chakkittakandiyil A, Lara-Corrales I, et al. Instrument for scoring clinical outcome of research for epidermolysis bullosa: a consensus-generated clinical research tool[J]. Pediatr Dermatol, 2015, 32(1): 41-52.
doi: 10.1111/pde.12317
pmid: 24650374
|
| [23] |
Scottish Medicines Consortium. Birch bark extract gel (Filsuvez®): Advice under the ultra-orphan framework[EB/OL]. (2024-07-08)[2025-08-11]. https://www.scottishmedicines.org.uk/medicines-advice/birch-bark-extract-filsuvez.
|
| [24] |
Jeon IK, On HR, Kim SC. Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa[J]. Ann Dermatol, 2016, 28(1): 6-14.
doi: 10.5021/ad.2016.28.1.6
pmid: 26848213
|
| [25] |
Goldschneider KR, Good J, Harrop E, et al. Pain care for patients with epidermolysis bullosa: best care practice guidelines[J]. BMC Med, 2014, 12: 178.
doi: 10.1186/s12916-014-0178-2
pmid: 25603875
|
| [26] |
Shayegan LH, Levin LE, Galligan ER, et al. Skin cleansing and topical product use in patients with epidermolysis bullosa: Results from a multicenter database[J]. Pediatr Dermatol, 2020, 37(2): 326-332.
doi: 10.1111/pde.14102
pmid: 31944391
|
| [27] |
Kern JS, Sprecher E, Fernandez MF, et al. Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study[J]. Br J Dermatol, 2023, 188(1): 12-21.
doi: 10.1093/bjd/ljac001
pmid: 36689495
|
| [28] |
Murrell DF, Bodemer C, Bruckner AL, et al. Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the phase III EASE study[J]. Br J Dermatol, 2025, 192(6): 1007-1017.
doi: 10.1093/bjd/ljaf022
pmid: 39821055
|
| [29] |
Bruckner A, Kiritsi D, Murrell D, et al. Oleogel-S10 reduces dressing changes burden and associated costs in patients with epidermolysis bullosa[J]. J Invest Dermatol, 2025, 145(3): e30.
|
| [30] |
Bruckner A, Kiritsi D, Murrell D. 274 Oleogel-S10 reduces dressing changes burden and associated costs in patients with epidermolysis bullosa[J]. J Investig Dermatol, 2024: 144S47.
|
| [31] |
Torres Pradilla M, Alvarez E, Novoa M, et al. OleogelS10 in dystrophic epidermolysis bullosa: a case series evaluating the impact on wound burden over two years[J]. Adv Ther, 2024, 41(2): 867-877.
doi: 10.1007/s12325-023-02749-x
|