 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.
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
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| 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
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| 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
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Below are MeSH descriptors whose meaning is more general than "Epidermolysis Bullosa Dystrophica".
Below are MeSH descriptors whose meaning is more specific than "Epidermolysis Bullosa Dystrophica".
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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 | | 2014 | 1 | 1 | 2 | | 2015 | 2 | 0 | 2 | | 2016 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 2 | 0 | 2 | | 2020 | 2 | 0 | 2 | | 2021 | 5 | 0 | 5 | | 2022 | 2 | 0 | 2 | | 2023 | 2 | 0 | 2 | | 2024 | 2 | 0 | 2 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Epidermolysis Bullosa Dystrophica" by people in Profiles.
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Pathmarajah P, Eid E, Nazaroff J, So J, Mittal V, Harris N, Li S, Lucky AW, Gorell ES, Peoples KG, Pope E, Lara-Corrales I, Paller AS, Wiss K, Perman MJ, Eichenfield LF, Levy ML, Morel KD, Garc?a-Romero MT, McCuaig CC, Saber M, Marinkovich MP, Oro A, Bruckner AL, Tang JY. Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2025 Apr 28; 192(5):917-925.
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Pascual MG, Cox HC, Larson A, Bruckner AL. Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1. Am J Med Genet A. 2025 Jul; 197(7):e64032.
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Neumayer G, Torkelson JL, Li S, McCarthy K, Zhen HH, Vangipuram M, Mader MM, Gebeyehu G, Jaouni TM, Jack?w-Malinowska J, Rami A, Hansen C, Guo Z, Gaddam S, Tate KM, Pappalardo A, Li L, Chow GM, Roy KR, Nguyen TM, Tanabe K, McGrath PS, Cramer A, Bruckner A, Bilousova G, Roop D, Tang JY, Christiano A, Steinmetz LM, Wernig M, Oro AE. A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa. Nat Commun. 2024 Jul 11; 15(1):5834.
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So JY, Nazaroff J, Yenamandra VK, Gorell ES, Harris N, Fulchand S, Eid E, Dolorito JA, Marinkovich MP, Tang JY. Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2024 Sep; 91(3):448-456.
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Liy-Wong C, Tarango C, Pope E, Coates T, Bruckner AL, Feinstein JA, Schwieger-Briel A, Hubbard LD, Jane C, Torres-Pradilla M, Zmazek M, Lara-Corrales I. Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa. Orphanet J Rare Dis. 2023 02 23; 18(1):38.
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Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, L?we S, Davis C, Sumeray M, Bruckner AL, Murrell DF. Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study. Br J Dermatol. 2023 01 23; 188(1):12-21.
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So JY, Nazaroff J, Iwummadu CV, Harris N, Gorell ES, Fulchand S, Bailey I, McCarthy D, Siprashvili Z, Marinkovich MP, Tang JY, Chiou AS. Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2022 10 17; 17(1):377.
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Feinstein JA, Bruckner AL, Chastek B, Anderson A, Roman J. Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2022 09 29; 17(1):367.
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Phillips GS, Huang A, Augsburger BD, Kaplan L, Peoples K, Bruckner AL, Khuu P, Tang JY, Lara-Corrales I, Pope E, Wiss K, Levin LE, Morel KD, Hook KP, Paller AS, Eichenfield LF, McCuaig CC, Powell J, Castelo-Soccio L, Levy ML, Price HN, Schachner LA, Browning JC, Jahnke M, Shwayder T, Bayliss S, Lucky AW, Glick SA. A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa. J Am Acad Dermatol. 2022 05; 86(5):1063-1071.
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Fulchand S, Harris N, Li S, Barriga M, Gorell E, De Souza M, Murrell D, Marinkovich MP, Krishna Yenamandra V, Tang JY. Patient-reported outcomes and quality of life in dominant dystrophic epidermolysis bullosa: A global cross-sectional survey. Pediatr Dermatol. 2021 Sep; 38(5):1198-1201.
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