[…] at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present. [5] : 598 [2] : 556 17q12-q21 ( KRT5 ), 12q13 ( KRT14 ) 131900 Localized epidermolysis bullosa simplex [wikidoc.org]

Society 1876 – Director, policlinic for syphilis and diseases of the skin, University of Breslau 1893 – Member of the German Academy of Natural Scientists, Leopoldina Died 3 September 1904 Charlottenberg Medical Eponyms Köbner (Koebner) phenomenon (Presented [lifeinthefastlane.com]

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]

• Disability

  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]

  Epidermolysis bullosa, late- onset localized junctional, with mental retardation 0 *Anodontia *Intellectual Disability *Nail Diseases *Epidermolysis Bullosa Simplex Hair/abnormalities. [reference.md]

  This family of disorders, most of which are inherited, range in severity from mild to the severely disabling and life-threatening diseases of the skin. This rare genetic disorder affects all ethnic and racial groups. [mybeautifulebbaby.blogspot.com]

  A new protocol for the treatment of hand deformities in recessive dystrophic epidermolysis bullosa (13 cases). 10.1016/S0753-9053(97)80025-7 Summary The recessive form of dystrophic epidermolysis bullosa creates severe hand deformities with disabling [scinapse.io]

  Death and disability are highly variable according to type of disease. Death in infancy can occur from infection. [patient.info]

• Fever

  If the infection had spread or the patient experiences symptoms such as weakness, lymph glands that are inflamed, and fever then prescribed oral antibiotics might be used. [healthsurgical.com]

  If your child has any of the following symptoms then see a doctor within 48 hours: fever acutely increased pain feeling unwell discharge from any of the blisters red, hot skin. [your.md]

  Blisters in oral mucous membranes were noted and found in summer and in periods of fever. Hair, teeth, and nails were normal. Improvement was noted by progression of age from 5 to 23 years, and by some in summer and by others in winter. [genome.jp]

  The one exception to this observation, which is seen in only a subset of EBS-DM patients, is a temporary reduction of blistering during periods of high fever. [ojrd.biomedcentral.com]

• Crying

  Internal complications may produce a hoarse cry, cough and respiratory difficulty. There is risk of death from sepsis or other complications due to epithelial dysfunction, and they usually die in infancy. [patient.info]

  Herlitz JEB-associated complications are similar to those seen in RDEB-GS and children may have a hoarse cry with difficulty breathing due to pathological changes in the airway. [news-medical.net]

• Asymptomatic

  The only common extracutaneous finding in localized EBS, localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one-third of these patients, and usually is seen only during infancy [ 27, 28 ]. [ojrd.biomedcentral.com]

• Vomiting

  Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. [icdlist.com]

  • Early attempts at feeding result in non-bilious vomiting.• Death occurs in first few months, unless pyloric stenosis is surgically corrected. 37. [slideshare.net]

• Osteoporosis

  These include alopecia (hair loss), failure to thrive, osteoporosis, and delayed puberty. [news-medical.net]

  Secondary consequences of the disease include malnutrition with subsequent growth slowing, anemia, constipation, osteopenia, osteoporosis, and dilated cardiomyopathy. [aocd.org]

  Some patients also develop: osteoporosis (weakening and thinning of the bones) anaemia, where there are not enough red blood cells in the body, resulting in tiredness and breathlessness problems with the urinary tract, where there is blistering or scarring [your.md]

  Patients with generalized forms of JEB and RDEB need to be monitored by serial DEXA scans for possible osteoporosis or osteopenia, and in selected EB subsets other laboratory parameters (hematological; renal) or diagnostic tests (echocardiogram) should [ojrd.biomedcentral.com]

• Blister

  Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. [ncbi.nlm.nih.gov]

  Overview Epidermolysis bullosa simplex, Koebner type: A rare genetic skin blistering disorder where fragile skin blisters upon minor trauma. The blistering is widespread and can cause severe scarring which can affect growth. [checkorphan.org]

  NIH Rare Diseases : 53 Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. [malacards.org]

• Hyperkeratosis

  Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis epidermolytic hyperkeratosis 1 Epidermolytic Palmoplantar Keratoderma epidermomycosis epidermomycosis epidermomycosis epidermophytid epidermophytin Epidermophyton [acronyms.thefreedictionary.com]

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

  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]

• Skin Disease

  The term ‘ epidermolysis bullosa ‘ was first introduced by Köbner in 1886 to describe an hereditary, non-scarring, blistering skin disease. [ 1886;12:21-2 ] Major Publications Controversies Köbner or Koebner: Original German spelling (Köbner) has mainly [lifeinthefastlane.com]

  CRC Press, 27.03.2009 - 160 Seiten This book is the definitive guide to the diagnosis and treatment of various blistering skin diseases. [books.google.de]

  CRC Press, 27 mar. 2009 - 160 páginas This book is the definitive guide to the diagnosis and treatment of various blistering skin diseases. [books.google.es]

  Abstract Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical-stress-induced degeneration of basal epidermal cells. [pnas.org]

  Abstract The term “epidermolysis bullosa” (EB) was first introduced by Koebner in the late 19th century to describe a nonscarring, blistering skin disease. [link.springer.com]

• Alopecia

  […] areata 140 141 Tinea capitis and kerion 141 142 Traction alopecia and hair pulling 142 143 Ectodermal dysplasias 142 145 Telogen and anagen effluvium 144 146 Pachyonychia congenita 146 148 Median nail dystrophy 148 150 Psoriasis nails 150 152 Ectodermal [books.google.de]

  Cicatricial JEB• Bistering heal with scarring and result in loss of nails, alopecia, syndactyly and contractures.• Involvement of oral mucosa with stenosis of anterior nares 40. [slideshare.net]

  […] for KRT14 Gene - elite association - COSMIC cancer census association via MalaCards Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia [genecards.org]

  These include alopecia (hair loss), failure to thrive, osteoporosis, and delayed puberty. [news-medical.net]

• Hyperpigmentation

  […] worsening in summer months, warm temperatures Mouth Mucosal erosions (mild) Dowling Meara Skin Widespread bu Ilae with "herpetiform" grouping of lesions may have marked severity with increased morbidity, mortality in infancy; nonscarring, postinflamma¬tory hyperpigmentation [cram.com]

  The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland [genecards.org]

  The blisters may be present from birth and cause extensive scarring with pseudosyndactyly and hypo or hyperpigmentation and unlike DDEB-G, there is mucosal involvement of the eyes, mouth, and esophagus. [news-medical.net]

  Piebaldism 105 108 Tinea versicolor 107 109 Lichen sclerosis 109 111 Morphea 111 112 Nevus depigmentosus 112 114 Hypomelanosis of Ito 114 116 Mongolian spots 116 118 Caféaulait macules CALMs 118 120 Junctional nevi 120 122 Lentigines 122 124 Postinflammatory hyperpigmentation [books.google.de]

• Screaming

  Sometimes she would scream in agony. She never crawled because it would hurt her so much. "Blisters form everywhere: under her hair, in her ears and her mouth. I became frightened to pick her up and dreaded having to get her dressed. [your.md]

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]

Three months after completion of drug treatment, only 12.5 percent of patients in the diacerein 1% treatment group returned to baseline blistering levels versus 67 percent of patients in the placebo group. [raredr.com]

Dental treatment for patients with EB consists of pall... more [scinapse.io]

Interdisciplinary management and treatment The objective of treatment of EB is a quality of life as normal as possible; causal treatment of EB including gene therapy is still not available [Ferrari et al. 2006]. [med-college.de]

[…] with EB simplex at the end of treatment versus baseline and compared to an intrasubject placebo treated control. [clinicaltrials.gov]

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 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]

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 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]

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]

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]

The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study population. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. [malattierare.regione.veneto.it]

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]

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]

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]

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]

Ulrike Raap, Sonja Stander, Martin Metz, Pathophysiology of Itch and New Treatments, Current Opinion in Allergy and Clinical Immunology, october 2011, http://www.medscape.com/viewarticle/749608 (11.) [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]

Epidermolysis bullosa simplex may be divided into multiple types: no cure for EB treat symptomatic protect skin, stop blisters formation, promote healing prevents complications Necessary treatment: use oral & topical steroid for healing & prevent complication [en.wikipedia.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]