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 7 publications over 6 distinct years, with a maximum of 2 publications in 1994

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

Year	Major Topic	Total
1994	2	2
2004	1	1
2012	1	1
2014	1	1
2020	1	1
2021	1	1

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

Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex. J Invest Dermatol. 2022 02; 142(2):382-389.

View in: PubMed
Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy. Circ Genom Precis Med. 2020 04; 13(2):e002800.

View in: PubMed
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.

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Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord. 2015 Feb; 25(2):165-8.

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Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. J Am Acad Dermatol. 2012 Sep; 67(3):e120-1.

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Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial. Br J Dermatol. 2004 Mar; 150(3):613-4.

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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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Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov; 103(5 Suppl):25S-30S.

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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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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.

View in: PubMed

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J Invest Dermatol
J Am Acad Dermatol
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Acta Derm Venereol