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Dominant Dystrophic Epidermolysis Bullosa(EBDCT)

MedGen UID:
37165
•Concept ID:
C0079136
•
Disease or Syndrome
Synonyms: Cockayne Touraine Disease; Cockayne Touraine Type Epidermolysis Bullosa; Cockayne-Touraine Disease; Cockayne-Touraine Type Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type; Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Epidermolysis Bullosa Dystrophica, Dominant
SNOMED CT: Dominant dystrophic epidermolysis bullosa (111389006); Epidermolysis bullosa dystrophica dominans (111389006); Hyperplastic epidermolysis bullosa (111389006); Cockayne Touraine epidermolysis bullosa (111389006); Epidermolysis bullosa, Cockayne-Touraine type (111389006); Hyperplastic dystrophic epidermolysis bullosa (111389006)
 
OMIM®: 131750

Professional guidelines

PubMed

Extremely mild dominant dystrophic epidermolysis bullosa: Genotype information from whole-exome sequencing of salivary gDNA predicts disease severity.
Miyazaki A, Takeichi T, Takeuchi S, Taki T, Muro Y, Akiyama M
J Dermatol 2022 Aug;49(8):e276-e277. Epub 2022 Apr 21 doi: 10.1111/1346-8138.16402. PMID: 35451103
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Mellado F, Fuentes I, Palisson F, I Vergara J, Kantor A
Cornea 2018 Apr;37(4):442-447. doi: 10.1097/ICO.0000000000001525. PMID: 29384803

Recent clinical studies

Etiology

Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin.
Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK
Br J Dermatol 2024 Jul 16;191(2):252-260. doi: 10.1093/bjd/ljae110. PMID: 38477474
Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.
Sawka E, Funk T
Pediatr Dermatol 2021 Sep;38(5):1251-1254. Epub 2021 Aug 2 doi: 10.1111/pde.14727. PMID: 34338359
Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
Watson KD, Schoch JJ, Beek GJ, Hand JL
Pediatr Dermatol 2017 Mar;34(2):166-171. doi: 10.1111/pde.13083. PMID: 28297147
A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication.
Leung J, Kuzel P, Kurian A, Brassard A
JAMA Dermatol 2015 Nov;151(11):1264-5. doi: 10.1001/jamadermatol.2015.1791. PMID: 26154424
Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.
Christiano AM, Ryynänen M, Uitto J
Proc Natl Acad Sci U S A 1994 Apr 26;91(9):3549-53. doi: 10.1073/pnas.91.9.3549. PMID: 8170945Free PMC Article

Diagnosis

Estimated Spending on Beremagene Geperpavec for Dystrophic Epidermolysis Bullosa.
Raymakers AJN, Kesselheim AS, Mostaghimi A, Feldman WB
JAMA Dermatol 2024 Mar 1;160(3):297-302. doi: 10.1001/jamadermatol.2023.5857. PMID: 38294784Free PMC Article
Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.
Sawka E, Funk T
Pediatr Dermatol 2021 Sep;38(5):1251-1254. Epub 2021 Aug 2 doi: 10.1111/pde.14727. PMID: 34338359
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW, Dagaonkar N, Lammers K, Husami A, Kissell D, Zhang K
Pediatr Dermatol 2018 Mar;35(2):188-197. Epub 2018 Jan 15 doi: 10.1111/pde.13392. PMID: 29334134
Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature.
Kim WB, Alavi A, Pope E, Walsh S
Int J Low Extrem Wounds 2015 Jun;14(2):196-9. Epub 2015 Feb 17 doi: 10.1177/1534734615572469. PMID: 25694436
Dystrophic epidermolysis bullosa.
Burkhart CG, Ruppert ES
Clin Pediatr (Phila) 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801. PMID: 7249491

Therapy

Improved erythema and decreased blister formation in dominant dystrophic epidermolysis bullosa following treatment with pulsed dye laser.
Garza-Mayers AC, Su KA, Wiss K
Pediatr Dermatol 2022 Nov;39(6):1005-1006. Epub 2022 Sep 5 doi: 10.1111/pde.15126. PMID: 36063122
Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment.
Pallesen KAU, Lindahl KH, Bygum A
Acta Derm Venereol 2019 Nov 1;99(12):1195-1196. doi: 10.2340/00015555-3304. PMID: 31453628
A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication.
Leung J, Kuzel P, Kurian A, Brassard A
JAMA Dermatol 2015 Nov;151(11):1264-5. doi: 10.1001/jamadermatol.2015.1791. PMID: 26154424
Hemorrhagic, bullous Henoch Schonlein purpura in a 16-year-old girl with previously undiagnosed dominant dystrophic epidermolysis bullosa.
Abdulla F, Sheth AP, Lucky AW
Pediatr Dermatol 2010 Mar-Apr;27(2):203-4. doi: 10.1111/j.1525-1470.2010.01105.x. PMID: 20537079
High-dose tocopherol acetate therapy in epidermolysis bullosa siblings of the Cockayne-Touraine type.
Shirakata Y, Shiraishi S, Sayama K, Shinmori H, Miki Y
J Dermatol 1993 Nov;20(11):723-5. doi: 10.1111/j.1346-8138.1993.tb01372.x. PMID: 8300945

Prognosis

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM, Zhou J, Wang M, Wang Q, Sun L, Mshenga MM, Lu H
BMC Pediatr 2024 Apr 5;24(1):242. doi: 10.1186/s12887-024-04715-0. PMID: 38580989Free PMC Article
Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.
Ma THT, Luong TLA, Hoang TL, Nguyen TTH, Vu TH, Tran VK, Nguyen DB, Trieu TS, Nguyen HH, Nong VH, Nguyen DT
Mol Genet Genomic Med 2021 Aug;9(8):e1748. Epub 2021 Jul 19 doi: 10.1002/mgg3.1748. PMID: 34286919Free PMC Article
Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America.
Feinstein JA, Jambal P, Peoples K, Lucky AW, Khuu P, Tang JY, Lara-Corrales I, Pope E, Wiss K, Hook KP, Levin LE, Morel KD, Paller AS, McCuaig CC, Powell J, Eichenfield LF, Price H, Levy ML, Schachner LA, Browning JC, Bayliss S, Jahnke M, Shwayder T, Glick SA, Bruckner AL
JAMA Dermatol 2019 Feb 1;155(2):196-203. doi: 10.1001/jamadermatol.2018.4673. PMID: 30586139Free PMC Article
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
Mellado F, Fuentes I, Palisson F, I Vergara J, Kantor A
Cornea 2018 Apr;37(4):442-447. doi: 10.1097/ICO.0000000000001525. PMID: 29384803
A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication.
Leung J, Kuzel P, Kurian A, Brassard A
JAMA Dermatol 2015 Nov;151(11):1264-5. doi: 10.1001/jamadermatol.2015.1791. PMID: 26154424

Clinical prediction guides

Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin.
Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK
Br J Dermatol 2024 Jul 16;191(2):252-260. doi: 10.1093/bjd/ljae110. PMID: 38477474
Hindi translation and validation of quality of life score in Indian patients with epidermolysis bullosa; and its correlation with the clinical severity assessment scores: A cross-sectional study.
Bishnoi A, Manjunath S, Kishore K, De D, Handa S, Murrell DF, Mahajan R
Indian J Dermatol Venereol Leprol 2022 Mar-Apr;88(2):177-183. doi: 10.25259/IJDVL_31_20. PMID: 34491666
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.
Smith BRC, Nyström A, Nowell CJ, Hausser I, Gretzmeier C, Robertson SJ, Varigos GA, Has C, Kern JS, Pang KC
Dis Model Mech 2021 Jun 1;14(6) Epub 2021 Jun 4 doi: 10.1242/dmm.048082. PMID: 34085701Free PMC Article
A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.
Komatsu K, Yamaguchi S, Utsumi D, Yamamoto I, Takahashi K
Acta Dermatovenerol Croat 2020 Dec;28(4):251-252. PMID: 33835003
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen PA, Sommerlund M, Hertz JM, Castiglia D
Br J Dermatol 2011 Sep;165(3):678-82. Epub 2011 Jul 28 doi: 10.1111/j.1365-2133.2011.10414.x. PMID: 21574979

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