Epidermolysis Bullosa Dystrophica

"Epidermolysis Bullosa Dystrophica" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

Descriptor ID	D016108
MeSH Number(s)	C16.131.831.493.160 C16.320.850.275.160 C17.300.200.367 C17.800.804.493.160 C17.800.827.275.160 C17.800.865.410.160
Concept/Terms	Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica Bullosa Dystrophica, Epidermolysis Bullosa Dystrophicas, Epidermolysis Dystrophica, Epidermolysis Bullosa Dystrophicas, Epidermolysis Bullosa Epidermolysis Bullosa Dystrophicas Epidermolysis Bullosa, Dystrophic Dystrophic Epidermolysis Bullosa Bullosa, Dystrophic Epidermolysis Bullosas, Dystrophic Epidermolysis Dystrophic Epidermolysis Bullosas Epidermolysis Bullosas, Dystrophic Hallopeau-Siemens Disease Hallopeau-Siemens Disease Hallopeau Siemens Disease Epidermolysis Bullosa Dystrophica, Autosomal Recessive Dystrophic Epidermolysis Bullosa, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Recessive Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type Cockayne-Touraine Disease Cockayne-Touraine Disease Cockayne Touraine Disease Cockayne-Touraine Type Epidermolysis Bullosa Cockayne Touraine Type Epidermolysis Bullosa Epidermolysis Bullosa Dystrophica, Dominant Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type

Below are MeSH descriptors whose meaning is more general than "Epidermolysis Bullosa Dystrophica".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Skin Abnormalities [C16.131.831]
Epidermolysis Bullosa [C16.131.831.493]
Epidermolysis Bullosa Dystrophica [C16.131.831.493.160]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Epidermolysis Bullosa [C16.320.850.275]
Epidermolysis Bullosa Dystrophica [C16.320.850.275.160]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Collagen Diseases [C17.300.200]
Epidermolysis Bullosa Dystrophica [C17.300.200.367]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Epidermolysis Bullosa [C17.800.804.493]
Epidermolysis Bullosa Dystrophica [C17.800.804.493.160]
Skin Diseases, Genetic [C17.800.827]
Epidermolysis Bullosa [C17.800.827.275]
Epidermolysis Bullosa Dystrophica [C17.800.827.275.160]
Skin Diseases, Vesiculobullous [C17.800.865]
Epidermolysis Bullosa [C17.800.865.410]
Epidermolysis Bullosa Dystrophica [C17.800.865.410.160]

Below are MeSH descriptors whose meaning is related to "Epidermolysis Bullosa Dystrophica".

Below are MeSH descriptors whose meaning is more specific than "Epidermolysis Bullosa Dystrophica".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Epidermolysis Bullosa Dystrophica" by people in this website by year, and whether "Epidermolysis Bullosa Dystrophica" was a major or minor topic of these publications.

Bar chart showing 148 publications over 30 distinct years, with a maximum of 10 publications in 2022

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1996	6	0	6
1997	3	0	3
1998	3	0	3
1999	6	1	7
2000	1	0	1
2001	2	0	2
2002	1	0	1
2003	1	0	1
2004	2	0	2
2005	4	1	5
2006	5	0	5
2007	5	0	5
2008	6	0	6
2009	2	0	2
2010	7	0	7
2011	7	0	7
2012	1	1	2
2013	6	2	8
2014	4	0	4
2015	8	1	9
2016	7	0	7
2017	2	1	3
2018	6	0	6
2019	8	0	8
2020	8	0	8
2021	7	0	7
2022	10	0	10
2023	3	0	3
2024	9	0	9
2025	1	0	1

Below are the most recent publications written about "Epidermolysis Bullosa Dystrophica" by people in Profiles.

Mellerio JE, Pillay EI, Sollesta K, Thiel KE, Zimmerman G, McGrath JA, Martinez AE, Jeffs E. Milestone events in recessive dystrophic epidermolysis bullosa: findings of the PEBLES study. Clin Exp Dermatol. 2025 May 23; 50(6):1125-1131.

View in: PubMed
Jeffs E, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, McGrath JA, Wang Y, Martinez AE, Mellerio JE. Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES). Orphanet J Rare Dis. 2024 Oct 11; 19(1):375.

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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. Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin. Br J Dermatol. 2024 07 16; 191(2):252-260.

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Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991.

View in: PubMed
Popp C, Miller W, Eide C, Tolar J, McGrath JA, Ebens CL. Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2024 Sep; 144(9):1943-1953.

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Guri-Lamce I, Alrokh Y, Graham C, Maeshima R, Rognoni E, Caley M, Laczmanski L, Hart SL, McGrath JA, Jack?w-Malinowska J. Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In?Vitro. J Invest Dermatol. 2024 Oct; 144(10):2314-2317.e3.

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Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study. J Am Acad Dermatol. 2024 Jul; 91(1):130-133.

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Tartaglia G, Fuentes I, Patel N, Varughese A, Israel LE, Park PH, Alexander MH, Poojan S, Cao Q, Solomon B, Padron ZM, Dyer JA, Mellerio JE, McGrath JA, Palisson F, Salas-Alanis J, Han L, South AP. Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa. EMBO Mol Med. 2024 Apr; 16(4):870-884.

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Doolan BJ, McGrath JA, Mellerio JE. Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper. Br J Dermatol. 2024 02 16; 190(3):340-342.

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Ropret S, Khurana P, Fabcic T, Cvetkovska J, Trobec A, Jokhadar ?Z, Ilic D, McGrath JA, Guttmann-Gruber C, Liovic M. Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB). Stem Cell Res. 2024 03; 75:103306.

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