 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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 | | 2009 | 1 | 0 | 1 | | 2013 | 0 | 1 | 1 | | 2014 | 0 | 1 | 1 | | 2015 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 2 | 0 | 2 | | 2022 | 1 | 0 | 1 | | 2023 | 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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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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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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Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jack?w J, Christiano AM, Uitto J, Fajardo-Ram?rez ?R, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Am J Med Genet A. 2021 11; 185(11):3390-3400.
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Solis DC, Teng C, Gorell ES, Barriga M, Nazaroff J, Li S, Lu Y, Bruckner A, Marinkovich MP, Tang JY. Classification of 2 distinct wound types in recessive dystrophic epidermolysis bullosa: A retrospective and cohort natural history study. J Am Acad Dermatol. 2021 11; 85(5):1296-1298.
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Bilousova G. Gene Therapy for Skin Fragility Diseases: The New Generation. J Invest Dermatol. 2019 08; 139(8):1634-1637.
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Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Sci Transl Med. 2018 08 22; 10(455).
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Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413.
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Geyer MB, Radhakrishnan K, Giller R, Umegaki N, Harel S, Kiuru M, Morel KD, LeBoeuf N, Kandel J, Bruckner A, Fabricatore S, Chen M, Woodley D, McGrath J, Baxter-Lowe L, Uitto J, Christiano AM, Cairo MS. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. J Pediatr. 2015 Sep; 167(3):765-9.e1.
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