Epidermolysis Bullosa, Junctional
"Epidermolysis Bullosa, Junctional" 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 having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
| Descriptor ID |
D016109
|
| MeSH Number(s) |
C16.131.831.493.170 C16.320.850.275.170 C17.800.804.493.170 C17.800.827.275.170 C17.800.865.410.170
|
| Concept/Terms |
Epidermolysis Bullosa, Junctional- Epidermolysis Bullosa, Junctional
- Epidermolysis Bullosa, Generalized Atrophic Benign
- Epidermolysis Bullosa Junctionalis, Severe Nonlethal
- Junctional Epidermolysis Bullosa
- Epidermolysis Bullosa Junctionalis, Disentis Type
Epidermolysis Bullosa Letalis- Epidermolysis Bullosa Letalis
- Bullosa Letali, Epidermolysis
- Bullosa Letalis, Epidermolysis
- Epidermolysis Bullosa Letali
- Letali, Epidermolysis Bullosa
- Letalis, Epidermolysis Bullosa
- Herlitz Disease
- Disease, Herlitz
- Lethal Junctional Epidermolysis Bullosa
- Herlitz-Pearson-Type Epidermolysis Bullosa
- Bullosa, Herlitz-Pearson-Type Epidermolysis
- Epidermolysis Bullosa, Herlitz-Pearson-Type
- Epidermolysis Bullosa, Junctional, Herlitz Type
- Herlitz-Pearson Type Epidermolysis Bullosa
- Herlitz Pearson Type Epidermolysis Bullosa
- Epidermolysis Bullosa Junctionalis, Herlitz Type
- Herlitz's Disease
- Disease, Herlitz's
- Herlitzs Disease
- Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
|
Below are MeSH descriptors whose meaning is more general than "Epidermolysis Bullosa, Junctional".
- 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, Junctional [C16.131.831.493.170]
- Genetic Diseases, Inborn [C16.320]
- Skin Diseases, Genetic [C16.320.850]
- Epidermolysis Bullosa [C16.320.850.275]
- Epidermolysis Bullosa, Junctional [C16.320.850.275.170]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Abnormalities [C17.800.804]
- Epidermolysis Bullosa [C17.800.804.493]
- Epidermolysis Bullosa, Junctional [C17.800.804.493.170]
- Skin Diseases, Genetic [C17.800.827]
- Epidermolysis Bullosa [C17.800.827.275]
- Epidermolysis Bullosa, Junctional [C17.800.827.275.170]
- Skin Diseases, Vesiculobullous [C17.800.865]
- Epidermolysis Bullosa [C17.800.865.410]
- Epidermolysis Bullosa, Junctional [C17.800.865.410.170]
Below are MeSH descriptors whose meaning is more specific than "Epidermolysis Bullosa, Junctional".
This graph shows the total number of publications written about "Epidermolysis Bullosa, Junctional" by people in this website by year, and whether "Epidermolysis Bullosa, Junctional" 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 |
|---|
| 2001 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2006 | 2 | 0 | 2 |
| 2007 | 2 | 0 | 2 |
| 2015 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Epidermolysis Bullosa, Junctional" by people in Profiles.
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Tartaglia G, Park PH, Alexander MH, Nystr?m A, Rosenbloom J, South AP. Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. Biomolecules. 2023 04 25; 13(5).
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Pasichow KP, Frizzola M, Miller EG. Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa. J Palliat Med. 2018 07; 21(7):1048-1052.
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Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. Int J Dermatol. 2015 Oct; 54(10):e416-23.
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Igoucheva O, Kelly A, Uitto J, Alexeev V. Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. J Invest Dermatol. 2008 Jun; 128(6):1476-86.
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Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol. 2007 Jul; 127(7):1772-5.
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Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006 Aug; 43(8):641-52.
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Saxena A, Lee JB, Humphreys TR. Mohs micrographic surgery for squamous cell carcinoma associated with epidermolysis bullosa. Dermatol Surg. 2006 Jan; 32(1):128-34.
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Hata D, Miyazaki M, Seto S, Kadota E, Muso E, Takasu K, Nakano A, Tamai K, Uitto J, Nagata M, Moriyama K, Miyazaki K. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Pediatrics. 2005 Oct; 116(4):e601-7.
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Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol. 2002 Apr; 46(4):510-6.
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Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 2002 Jan; 110(1):41-51.