Symptoma

Epidermolysis Bullosa Simplex Type Kobner

Epidermolysis Bullosa Simplex, Koebner Type

In EBS, gen intermed, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-gen sev. [ncbi.nlm.nih.gov]

[…] involves the junction of epidermis and skin The mutated genes encode proteins Plectin, Laminin 332, and a6b4 Integrin The condition presents itself at birth Epidermolysis Bullosa Acquisita is an acquired form of EB. [dovemed.com]

Acronym K-EBS Synonyms EBS2 EBS generalized Epidermolysis bullosa simplex 2 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

  • Strabismus

    PMID: 12930305 Diagnosis Al-Thawabieh W, Lucky AW, Wong B, Motley WW J Pediatr Ophthalmol Strabismus 2018 Aug 29;55:e26-e29. doi: 10.3928/01913913-20180806-03. [ncbi.nlm.nih.gov]

    Other ocular associations reported in EB include cataracts (11), cornea plana and sclerocornea (12), refractive errors, amblyopia, lacrimal duct obstruction, strabismus, lens subluxation, posterior vitreous detachment, and Graves’ disease. 2 This study [bjo.bmj.com]

  • Lacrimation

    Other ocular associations reported in EB include cataracts (11), cornea plana and sclerocornea (12), refractive errors, amblyopia, lacrimal duct obstruction, strabismus, lens subluxation, posterior vitreous detachment, and Graves’ disease. 2 This study [bjo.bmj.com]

  • Plantar Hyperkeratosis

    The frequency of milia, mild atrophic scarring, focal plantar hyperkeratosis and nail dystrophy is intermediate between that of localized EBS and EBS-DM (see these terms), and extracutaneous findings, other than occasional intraoral blistering, are rare [orpha.net]

    TY - JOUR T1 - Severe palmo-plantar hyperkeratosis in Koebner epidermolysis bullosa simplex. [unboundmedicine.com]

    Because this goal is rarely achieved, e... more A 22-year-old Japanese woman with Koebner epidermolysis bullosa simplex presented with severe palmo-plantar hyperkeratosis. [scinapse.io]

    Expression of a truncated keratin 5 may contribute to severe palmar-plantar hyperkeratosis in epidermolysis bullosa simplex patients. J. Invest. Derm. 116: 970-974, 2001. 19. Mulley, J. C.; Nicholls, C. M.; Propert, D. [genome.jp]

    Keratolytics and softening agents for palmar plantar hyperkeratosis may prevent tissue thickening and cracking. [ncbi.nlm.nih.gov]

  • Skin Tear

    Hence, a minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering EB is not a preventable condition. However, blistering and complications can be prevented to a certain extent. [dovemed.com]

  • Oral Blisters

    Clinical Synopsis: INHERITANCE: Autosomal dominant HEAD AND NECK: [Mouth]; Oral blistering SKIN, NAILS, HAIR: [Skin]; Blistering, generalized, recurrent (occurs after mild physical trauma); Hyperkeratosis of the palms and soles; Milia (less common); Lack [genome.jp]

  • Oral Blistering

    Clinical Synopsis: INHERITANCE: Autosomal dominant HEAD AND NECK: [Mouth]; Oral blistering SKIN, NAILS, HAIR: [Skin]; Blistering, generalized, recurrent (occurs after mild physical trauma); Hyperkeratosis of the palms and soles; Milia (less common); Lack [genome.jp]

  • Hemorrhagic Bullae

    Extremely fragile and hemorrhagic bullae are found in almost all patients, especially at the junction of the hard and soft palates.14 Oral ulcerations, as well as blistering, can be seen at birth or shortly thereafter.ls Hypoplastic and pitted enam- el [dokumen.tips]

  • Suggestibility

    Exome sequencing in two cases suggested a novel non-synonymous variation, p.L325H, in the KRT5 gene. The present analysis also reports the first causative mutation of EBS Koebner type from India. [guardian.meragenome.com]

    The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. {11:Gedde-Dahl (1981)} recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided [diseaseinfosearch.org]

    Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild [malacards.org]

More Symptoms of Epidermolysis bullosa simplex, Koebner type » • • • Back to: « Epidermolysis bullosa simplex Genetics of Epidermolysis bullosa simplex, Koebner type Treatments See also the following treatment articles: Treatments for Epidermolysis Bullosa [familydiagnosis.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment is focused on managing the symptoms. The symptoms of EBS tend to get better with age. The long-term outlook for people with EBS depends on how well the skin symptoms can be managed. [4] Last updated: 2/18/2019 [rarediseases.info.nih.gov]

Prognosis Although the disease can be severely disabling, life-expectancy is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

The treatment offered is symptomatic including blister wound care, use of painkillers, nutritional support, and supportive care The prognosis depends on the type of Epidermolysis Bullosa. Junctional EB individuals usually die within the first year. [dovemed.com]

Prognosis - Epidermolysis bullosa simplex- Koebner type Not supplied. Treatment - Epidermolysis bullosa simplex- Koebner type Not supplied. Resources - Epidermolysis bullosa simplex- Koebner type Not supplied. [checkorphan.org]

Etiology Non-Dowling-Meara EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively. [orpha.net]

Etiology mutation in the keratin 5 (KRT5) (MIM.148040) mutation in the keratin 14 gene (KRT14) (MIM.148066) See also Koebner type of EBS (MIM.148040) Weber-Cockayne type of EBS (lesions are limited to the hands and feet) [humpath.com]

Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy, New York: Springer Wien; 2009. [rarediseases.org]

Summary Epidemiology Worldwide prevalence is unknown but in Scotland reported overall prevalence of non-Dowling-Meara generalized EBS and localized EBS is 1/35,000. Clinical description Onset of the disease is usually at birth. [orpha.net]

Google Scholar Fine JD: Epidemiology and the study of genetic diseases. Edited by: Grob JJ, MacKie R, Stern R, Weinstock M. Epidemiology and prevention of skin diseases London: Blackwell Science; 1996. [ojrd.biomedcentral.com]

Fine JD, Bauer E, McGuire J, Moshell A, eds.Epidermolysis Bullosa: Clinical, Epidemiologic, and Laboratory Advances and the Findings of the National Epidermolysis Bullosa Registry 1st edition The Johns Hopkins University Press; 1999. [rarediseases.org]

Relevant External Links for KRT5 Genetic Association Database (GAD) KRT5 Human Genome Epidemiology (HuGE) Navigator KRT5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: KRT5 No data available for Genatlas for KRT5 Gene Epidermolysis bullosa [genecards.org]

EBA is rare in humans. [ 5 ] Epidemiology Population studies are complicated by the fact that this is not a uniform disease but a wide number of diseases of varying severity. [patient.info]

The pathophysiology of this disorder has been traced to the fragility of the skin layer organization, primarily attributed to abnormal structure and/or architecture of keratin microfilaments in the skin, resulting in skin that is fragile and sensitive [nature.com]

Within the framework of clinical internal medicine, they will gain critical knowledge of the many powerful molecular biology-based developments now so rapidly enhancing our understanding of the pathophysiology of disease, improving the feasibility and [books.google.es]

In DEB the epidermis, which in normal skin shows only minimal collagenolytic activity, as well as the papillary dermis are capable of producing a specific coUagenase whose activity may contribute to ... more Introduction biology and pathophysiology of [scinapse.io]

As knowledge about the pathophysiology of EB has become more advanced, new variants of EB have been identified based on their specific genetic mutation. [ 1 ] Investigations [ 11 ] Skin biopsy is required. [patient.info]

Raap, Ulrike, Stander, Sonja, Metz, Martin, Pathophysiology of Itch and New Treatments, Current Opinion in Allergy and Clinical Immunology, October 2011, 15. Stoudemire, Alan, MD & Barry S. [go.galegroup.com]

Hence, a minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering EB is not a preventable condition. However, blistering and complications can be prevented to a certain extent. [dovemed.com]

[…] for Epidermolysis bullosa simplex, Koebner type includes the 5 symptoms listed below: * Blisters * Hemorrhagic blisters * Scarring * Excessive sweating of hands * Excessive sweating of feet Causes - Epidermolysis bullosa simplex- Koebner type Blisters Prevention [checkorphan.org]

Management involves identifying new blisters, lancing them with a sterile needle or snipping with a sharp pair of scissors, to release the fluid and prevent spread. [gosh.nhs.uk]