Epidermolysis Bullosa Simplex

"Epidermolysis Bullosa Simplex" 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

A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.

Descriptor ID

D016110

MeSH Number(s)

C16.131.831.493.180

C16.320.850.275.180

C17.800.804.493.180

C17.800.827.275.180

C17.800.865.410.180

Concept/Terms

Epidermolysis Bullosa Simplex

Weber-Cockayne Syndrome

Epidermolysis Bullosa Simplex Kobner

Epidermolysis Bullosa Herpetiformis Dowling-Meara

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

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 Simplex [C16.131.831.493.180]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Epidermolysis Bullosa [C16.320.850.275]
Epidermolysis Bullosa Simplex [C16.320.850.275.180]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Epidermolysis Bullosa [C17.800.804.493]
Epidermolysis Bullosa Simplex [C17.800.804.493.180]
Skin Diseases, Genetic [C17.800.827]
Epidermolysis Bullosa [C17.800.827.275]
Epidermolysis Bullosa Simplex [C17.800.827.275.180]
Skin Diseases, Vesiculobullous [C17.800.865]
Epidermolysis Bullosa [C17.800.865.410]
Epidermolysis Bullosa Simplex [C17.800.865.410.180]

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

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

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Epidermolysis Bullosa Simplex" by people in Harvard Catalyst Profiles by year, and whether "Epidermolysis Bullosa Simplex" was a major or minor topic of these publication.

Bar chart showing 11 publications over 7 distinct years, with a maximum of 3 publications in 1992

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

Year	Major Topic	Total
1991	1	1
1992	3	3
1993	2	2
1994	2	2
2004	1	1
2012	1	1
2014	1	1

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

Kim EN, Harris AG, Bingham LJ, Yan W, Su JC, Murrell DF. A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. Acta Derm Venereol. 2017 Oct 02; 97(9):1114-1119.

View in: PubMed
Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord. 2015 Feb; 25(2):165-8.

View in: PubMed
Crombie J, Greenlaw S, Fenner J, Lyle S, Wiss K. Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. J Am Acad Dermatol. 2012 Sep; 67(3):e120-1.

View in: PubMed
Weiner M, Stein A, Cash S, de Leoz J, Fine JD. Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial. Br J Dermatol. 2004 Mar; 150(3):613-4.

View in: PubMed
Arbiser JL, Fine JD, Murrell D, Paller A, Connors S, Keough K, Marsh E, Folkman J. Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. Mol Med. 1998 Mar; 4(3):191-5.

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Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov; 103(5 Suppl):25S-30S.

View in: PubMed
Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci. 1994 Apr; 107 ( Pt 4):765-74.

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Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci U S A. 1993 Apr 15; 90(8):3197-201.

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Adamis AP, Schein OD, Kenyon KR. Anterior corneal disease of epidermolysis bullosa simplex. Arch Ophthalmol. 1993 Apr; 111(4):499-502.

View in: PubMed
Kates SG, Sueki H, Honig PJ, Murphy GF. Immunohistochemical and ultrastructural characterization of tonofilament and hemidesmosome abnormalities in a case of epidermolysis bullosa herpetiformis (Dowling-Meara). J Am Acad Dermatol. 1992 Dec; 27(6 Pt 1):929-34.

View in: PubMed

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