Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)

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.

Also Known As:

Epidermolysis Bullosa Herpetiformis Dowling Meara; EBS, Acral Form; EBS, Generalized; EBS-DM; Epidermolysis Bullosa Herpetiformis, Dowling-Meara; Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type; Epidermolysis Bullosa Simplex, Cockayne-Touraine Type; Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Koebner Type; Epidermolysis Bullosa Simplex, Localized; Epidermolysis Bullosa Simplex, Weber-Cockayne Type; Epidermolysis Bullosa of Hands and Feet; Weber-Cockayne Type Epidermolysis Bullosa Simplex; Acral Form EBS; Acral Form EBSs; Bullosa Simplices, Epidermolysis; EBSs, Acral Form; EBSs, Generalized; Epidermolysis Bullosa Herpetiformis, Dowling Meara; Epidermolysis Bullosa Herpetiformis, Dowling Meara Type; Epidermolysis Bullosa Simplex, Cockayne Touraine Type; Epidermolysis Bullosa Simplex, Dowling Meara Type; Epidermolysis Bullosa Simplex, Weber Cockayne Type; Epidermolysis Bullosa Simplices; Generalized EBS; Generalized EBSs; Weber Cockayne Syndrome; Weber Cockayne Type Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Herpetiformis Dowling-Meara; Epidermolysis Bullosa Simplex Kobner; Weber-Cockayne Syndrome

Networked: 350 relevant articles (4 outcomes, 19 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Blister (Bulla)
2.	Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
3.	Muscular Dystrophies (Muscular Dystrophy)
4.	Skin Diseases (Skin Disease)
5.	Wounds and Injuries (Trauma)

Experts

1.	Lane, E Birgitte: 12 articles (03/2022 - 01/2002)
2.	Magin, Thomas M: 10 articles (12/2022 - 01/2007)
3.	Has, Cristina: 8 articles (12/2022 - 08/2006)
4.	Bauer, Johann W: 8 articles (11/2018 - 12/2010)
5.	Shimizu, Hiroshi: 8 articles (12/2017 - 06/2002)
6.	Wiche, Gerhard: 8 articles (12/2015 - 01/2002)
7.	Liovic, Mirjana: 7 articles (04/2020 - 06/2008)
8.	Wally, Verena: 7 articles (11/2018 - 12/2010)
9.	Nakamura, Hideki: 7 articles (12/2017 - 06/2002)
10.	Jonkman, Marcel F: 7 articles (06/2015 - 04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Epidermolysis Bullosa Simplex:

1.	trimethyloxamine (trimethylamine N-oxide)IBA 05/01/2010 - "Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes." 03/01/2016 - "Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide." 03/01/2009 - "Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition."
2.	Cyproheptadine (Periactin)FDA Link 02/01/1997 - "Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara?"
3.	Bufexamac (Jomax)IBA 11/01/1988 - "Evaluation of the efficacy of topical bufexamac in epidermolysis bullosa simplex. "
4.	apremilastIBA 01/01/2019 - "Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment."
5.	Keratins (Keratin)IBA 07/01/2002 - "This study presents new data, examines clinical, histological, ultrastructural, and molecular aspects of MECD, and compares the features seen in this condition with those observed in other well studied keratin diseases such as epidermolysis bullosa simplex. " 03/27/2000 - "The positions of the EBS-DM mutations were consistent with previous studies, whereas the EBS-WC and EBS-K mutations were found in regions of the keratin genes not typically associated with this type of EBS mutations. " 06/01/1999 - "Epidermolysis bullosa simplex (EBS) is caused by defective assembly of keratin intermediate filaments in basal keratinocytes and recent studies indicated causal mutations in the keratin KRT5 and KRT14 genes. " 01/01/1996 - "Epidermolysis bullosa simplex (EBS) is caused by an aberration of the keratin intermediate filaments and recent studies indicated causal mutations in the keratin K14 and K5 genes. " 01/01/1994 - "Ultrastructural and immunohistochemical studies of clinically intact skin obtained from three severe neonatal cases of epidermolysis bullosa herpetiformis (Dowling-Meara type) demonstrated disorders in the assembly of keratin intermediate filaments and desmosomes of the keratinocytes. "
6.	Keratin-5 (Keratin 5)IBA 07/01/2007 - "A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist." 11/01/2019 - "Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation." 01/01/2019 - "Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype." 01/01/2019 - "Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis." 08/01/2018 - "p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex."
7.	PlectinIBA 01/01/2022 - "Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India." 12/15/2015 - "We further demonstrate that keratinocytes have abnormal nuclear morphologies in the epidermis of plectin-deficient, epidermolysis bullosa simplex patients. " 01/01/2014 - "Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients." 03/01/2010 - "Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex." 03/01/2010 - "Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report."
8.	Keratin-14 (Keratin 14)IBA 11/01/2017 - "In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). " 01/01/2022 - "Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants." 07/22/2021 - "In skin, KLHL24-ΔN28 leads to gain of function, excessively targeting intermediate filament keratin-14 for proteasomal degradation, ultimately causing epidermolysis bullosa simplex (EBS). " 01/01/2020 - "We have generated UQACi001-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a male patient with the generalized severe epidermolysis bullosa simplex phenotype (EBS-gen sev) and carrying the keratin 14 (K14) R125S mutation. " 10/01/2014 - "Novel Ala94Thr mutation of keratin 14 in epidermolysis bullosa simplex."
9.	Proteins (Proteins, Gene)FDA Link 11/01/2019 - "Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. " 01/01/2017 - "A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. " 11/01/2014 - "Genetic alterations of these proteins cause epidermolysis bullosa simplex (EBS) characterized by disturbed cytoarchitecture and cell fragility. " 01/01/2014 - "Recently, autosomal recessive loss-of-function mutations in EXPH5 (encoding exophilin-5, also known as Slac2-b, a protein involved in intracellular vesicle transport) were identified in a new mechanobullous disease resembling a form of epidermolysis bullosa simplex (EBS). " 02/11/1997 - "In diseases in which the mutation leads to an abnormal structural protein, the homozygote may be as severely affected as the heterozygote (epidermolysis bullosa simplex) or more severely (achondroplasia, Marfan syndrome). "
10.	CytokinesIBA 05/01/2009 - "Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex." 10/01/2015 - "Our aim was to investigate a set of cytokine levels in serum samples from patients suffering from epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), and healthy controls (HCs), exploring their potential correlations with antiskin autoantibody titers and disease activity. " 01/01/2019 - "Studies have shown that patients with generalized severe epidermolysis bullosa simplex (EBS), a variant characterized by extreme fragility, develop blisters in the setting of overproduced, mutated K14 protein, a component of the intermediate filament integral in keratinocyte stability, and constitutive activation of interleukin (IL)-1 , a pro-inflammatory cytokine that promotes the hyperproliferation of keratinocytes. "

Therapies and Procedures

1.	Therapeutics 01/01/2022 - "In this study, we utilize this approach to identify, to our knowledge, previously unreported therapies for epidermolysis bullosa simplex (EBS). " 12/01/2022 - "Epidermolysis bullosa simplex (EBS) is a severe and potentially life-threatening disorder for which no adequate therapy exists. " 01/01/2022 - "(2021) combined transcriptomics and computational analysis of drug-target databases to identify novel therapies for epidermolysis bullosa simplex. " 01/01/2022 - "Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex." 12/15/2015 - "To be able to develop effective therapeutics for epidermolysis bullosa simplex (EBS), it is necessary to elucidate the molecular pathomechanisms that give rise to the disease's characteristic severe skin-blistering phenotype. "
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2018 - "Thus, further preclinical experimentation, possibly using mouse models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable before commencing clinical trials of bone marrow transplantation for epidermolysis bullosa simplex." 01/01/2018 - "In this issue, two studies (Hünefeld et al., and Egawa and Kabashima) address the issue whether bone marrow transplantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal blistering. "
3.	Spinal Fusion (Spondylosyndesis) 06/01/2021 - "In this case report, we presented a case of a 14-year-old girl with epidermolysis bullosa simplex and Gitelman's syndrome who underwent posterior spinal fusion for scoliosis. " 01/01/2022 - "Anesthetic management of a pediatric patient with epidermolysis bullosa simplex undergoing spinal fusion."
4.	Radiotherapy 05/01/2019 - "Definitive radiotherapy for Merkel cell carcinoma in the setting of epidermolysis bullosa simplex." 01/01/2010 - "Successful radiation therapy for supratentorial primitive neuroectodermal tumor and epidermolysis bullosa simplex."
5.	Hydrocolloid Bandages (Duoderm) 03/01/2017 - "Epidermolysis bullosa simplex complicated by allergic contact dermatitis caused by a hydrocolloid dressing."