Nail dystrophy, always present, can lead to loss of nail plates. Blisters develop in the mucosa, mainly in the oral cavity and, less commonly, the esophagus, where they can cause strictures. Dental caries are relatively frequent. [orpha.net]

Collagen VII mRNA was of normal size in the DEBD cells, but present in excessive amounts. [ncbi.nlm.nih.gov]

The main presenting feature of DEB is trauma induced blisters and healing with scarring. [contempclindent.org]

The blistering usually is present from birth; however, it improves with age. [news-medical.net]

More Symptoms of Generalized dominant dystrophic epidermolysis bullosa » Genetics of Generalized dominant dystrophic epidermolysis bullosa Treatments See also the following treatment articles: Treatments for Dominant dystrophic epidermolysis bullosa Causes [familydiagnosis.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

If you are reading this section because there is a new baby in your life with EB, please bear in mind that, while there is currently no safe and effective treatment for EB, there is much research on-going into possible treatments, some of which are showing [debra-international.org]

Prognosis 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]

DDEB-G has a good prognosis and manifests due to reduced collagen type VII expression. Blistering in DDEB-G is typically mild and limited to areas more prone to trauma such as the hands, elbows, knees, and feet. [news-medical.net]

The prognosis for children with EB varies wildly, depending on which variety they have, Theos said. Newborns with junctional EB, one of the most rare and severe varieties, typically don’t survive more than a year. [al.com]

Etiology DDEB-gen is caused by mutations within the type VII collagen gene ( COL7A1 ) that lead to an alteration of function or a reduction in the amount of collagen VII. [orpha.net]

( J Clin Invest 2009;119:1784 ) Junctional: blisters within lamina lucida, skin appears normal Dystrophic: blisters are sub-lamina densa; dominant or recessive Kindler syndrome: blisters at multiple levels (intra-lamina lucida and sub-lamina densa) Etiology [pathologyoutlines.com]

Poor oral hygiene, and diet rich in sugar and carbohydrates, which is necessary to provide sufficient caloric intake to maintain the growth, are the two most important etiological factors in high caries experience. [contempclindent.org]

Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy Wien New York: Springer Verlag GmbH; 2009:258-277. [ojrd.biomedcentral.com]

Summary Epidemiology The differential diagnosis includes other forms of EB. [orpha.net]

Epidemiology Frequency United States The exact prevalence of epidermolysis bullosa is unknown. Mild variants have been estimated to occur as frequently as 1 per 50,000 births. [emedicine.medscape.com]

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]

[…] generalized RDEB Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Pathophysiology [ edit ] In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita. [7] There exist other types of inherited [en.wikipedia.org]

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]

[…] insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T A LIPH mutation 40th Annual Meeting of the Japanese Society for Investigative Dermatology 2015/12/11 34 Clinical, histological and genetic insights into the pathophysiology [k-ris.keio.ac.jp]

Eponyms associated with different forms of epidermolysis bullosa include the following: Dowling-Meara Köebner Weber-Cockayne Kallin Mendes de Costa Herlitz Ogna Carmi Cockayne-Touraine Pasini Hallopeau-Siemens Shabbir Laryngoonychocutaneous (LOC) Pathophysiology [emedicine.medscape.com]

Management and treatment Management is preventive: protective padding of the skin and appropriate lifestyle measures reduce blistering, and careful wound care prevents secondary infection and reduces scarring. [orpha.net]

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]

The use of fluoride to prevent dental caries is another vital component in prevention. Neutral pH sodium fluoride mouthwashes are useful, while acidic fluoride preparations cause discomfort when oral ulceration occurs. [e-ijd.org]

Oral involvement also reduces the ability to practice preventive measures directed at reducing caries. [debracanada.org]