DEB Subtypes Features Dominant generalised DEB Generalised blistering present at birth Blistering becomes localised to hands, feet, elbow or knees as the child grows older and in response to friction Small white spots called milia are often present at [dermnetnz.org]

At the age of 10 the nails were gradually shed and now no nails were present on the fingers or toes. [ijdvl.com]

The H-JEB patients presented have functional null alleles for one of the laminin-5 chains. [jem.rupress.org]

The role of the various diagnostic tests is explained, and clinical manifestations of the specific diseases are presented with the aid of many high-quality illustrations. [books.google.com]

He also presented nail dystrophy and tooth abnormalities. Mucosal involvement was limited to gingival erosion. Alopecia was absent and body, axillary and pubic hair were normal. [ncbi.nlm.nih.gov]

• Amyloidosis

  Ridley, CM. and Levy, I.S. (1968) Epidermolysis bullosa and amyloidosis. Trans. St. John’s Hosp. Dermatol. Soc, 54, 75–82. Google Scholar 22. Tidman, M.J., Eady, R.A.J. and Marsden, R.A. (1985) Non-lethal junctional epidermolysis bullosa. Brit. J. [link.springer.com]

  Development of squamous cell carcinomas has been reported. [25] Other complications include osteoporosis, renal amyloidosis, pulmonary amyloidosis, and dilated cardiomyopathy. [ijdvl.com]

  Due to numerous complications (secondary infection, amyloidosis, sepsis, bleeding from erosions), life expectancy is reduced [Bork et al. 2008; Fine et al. 2008; Voigtländer V 1998]. [med-college.de]

  Conditions such as glomerulonephritis, renal amyloidosis, and immunoglobulin A nephropathy have all contributed to renal failure in cases of EB [4]. ► Psychological complications Depression and other emotional issues are common with EB. [physio-pedia.com]

  Chronic renal failure, the result of poststreptococcal glomerulonephritis or renal amyloidosis, occurs within this RDEB subtype, and may eventually lead to death in about 12% [ 59 ]. [ojrd.biomedcentral.com]

• Osteoporosis

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

  As a consequence of the osteoporosis, a significant proportion of patients develop fractures. [bmcmedicine.biomedcentral.com]

  Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may require calcium and vitamin D supplements to prevent osteoporosis. [dxline.info]

  Other patients have selenium and carnitine or vitamin D deficiencies which may predispose them to cardiomyopathy and osteoporosis. Many patients develop failure to thrive and require feeding gastrostomies. [rarediseases.org]

• Arthritis

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme [icdlist.com]

  National Institute of Arthritis and Musculoskeletal and Skin Diseases. 11 April 2017. Retrieved 16 May 2018. ^ a b "Epidermolysis Bullosa". National Institute of Arthritis and Musculoskeletal and Skin Diseases. 11 April 2017. [en.wikipedia.org]

  Here are some facts about the disease: According to National Institute of Arthritis and Musculoskeletal and Skin Diseases, EB is an illness that causes the skin to be extremely fragile. [digjamaica.com]

  National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/. Accessed June 15, 2017. AskMayoExpert. Pemphigoid disorders. [mayoclinic.org]

• Erythema

  Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome and erythema multiforme. Arch Dermatol '1993; 129: 92-6. ‎ [books.google.es]

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme [icdlist.com]

  With Pyloric Atresia Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita Jeb-Pa Junctional Epidermolysis Bullosa With Pyloric Atresia 226730 Genetic Test Registry Epidermolysis Bullosa Simplex With Migratory Circinate Erythema [ukgtn.nhs.uk]

  […] dystrophica, AR 226600 COL7A1 collagen, type VII, alpha 1 Epidermolysis bullosa of hands and feet 131800 ITGB4 integrin, beta 4 Epidermolysis bullosa pruriginosa 604129 COL7A1 collagen, type VII, alpha 1 Epidermolysis bullosa simplex with migratory circinate erythema [ac-gen.com]

  Epidermolysis bullosa, porphyria cutanea tarda and erythema multiforme. In: Ultrastructure of normal and abnormal skin (Ed: A. S. Zelickson), pp. 320–334, Philadelphia: Lea and Febiger 1967 Google Scholar 18. Pearson, R. [link.springer.com]

• Skin Atrophy

  Junctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genodermatosis, characterized by trauma-induced blistering and healing without scarring but sometimes with skin atrophy. [ncbi.nlm.nih.gov]

  atrophy and milia #pic#. [med-college.de]

  In another variant of RDEB known as RDEB inversa, blistering and skin atrophy occurs on the neck, thighs, groins and axillae while no changes are observed on the hands, feet, elbows, or knees. [ijdvl.com]

• Plantar Hyperkeratosis

  Palmar hyperhidrosis MedGen UID: 346478 • Concept ID: C1856953 • Finding Plantar hyperkeratosis MedGen UID: 341658 • Concept ID: C1856954 • Finding Hyperkeratosis affecting the sole of the foot. [ncbi.nlm.nih.gov]

  Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). J Invest Dermatol 1998;111:893-5. [ PUBMED ] 14. Fischer T, Gedde-Dahl T Jr. [ijdvl.com]

• Skin Ulcer

  […] pigmentation abnormality Aplasia Hypoplastic toenails Fragile nails Skin Ulcers Muscle abnormality Respiratory system abnormality Skeletal system abnormality Corneal erosion • • • Back to: « Adult junctional epidermolysis bullosa Back to: « Junctional [familydiagnosis.com]

  PubMed PubMed Central Google Scholar Twillman RK, Long TD, Cathers TA, Mueller DW: Treatment of painful skin ulcers with topical opioids. J Pain Symptom Manage. 1999, 17: 288-292. [bmcmedicine.biomedcentral.com]

• Palmar Hyperhidrosis

  Palmar hyperhidrosis MedGen UID: 346478 • Concept ID: C1856953 • Finding Plantar hyperkeratosis MedGen UID: 341658 • Concept ID: C1856954 • Finding Hyperkeratosis affecting the sole of the foot. [ncbi.nlm.nih.gov]

Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment. [books.google.de]

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]

The prognosis for junctional EB (JEB), particularly JEB, generalized severe (JEB-gen sev), is grim, with about half of all children dying by 1 year of age, and all but a few dying by 25 years of age. [46] The prognosis for dominant dystrophic EB (DDEB [online.epocrates.com]

This is a junctional form of EB that, in contrast to EB letalis of Herlitz, has a good prognosis. [jamanetwork.com]

What is the prognosis of epidermolysis bullosa? The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structural of the genetically altered protein. [medicinenet.com]

This is critical for therapy, genetic counseling, and prognosis. Genetic counseling: Since these diseases are inherited, genetic counseling is essential. [dermquest.com]

Their prognosis mainly depends on adequate nutrition and hence on their dental status. Classification and pathogenesis of EB EB is classified by clinical, genetic and, above all, ultra-structural criteria. [med-college.de]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

It has a variety of underlying causes, with a common etiology of chronic inflammation. [plantanious.com]

( 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]

Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Springer Science & Business Media. p. 242. ISBN 9783211792711. ^ a b c d e f g h i j k "Epidermolysis bullosa". rarediseases.info.nih.gov. [en.wikipedia.org]

Etiology/Causes With epidermolysis bullosa, the fragility of skin and mucosa in which erosions occur because of slight mechanical trauma are inadvertently the result of defects in structural proteins within the epidermis. [physio-pedia.com]

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

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]

Epidemiology The most accurate epidemiological data are derived from the National EB registry project from USA and also from Scotland. [1], [4] According to the National EB registry project from USA, the incidence and prevalence of EB are estimated to [ijdvl.com]

Pediatr Dermtol 6:1–5 CrossRef Google Scholar Gedde-Dahl T Jr (1971) Epidermolysis bullosa: a clinical, genetic and epidemiological study. [doi.org]

The epidemiology of epidermolysis bullosa in the U.K.: A 9-year study. Br J Dermatol. 2011. 165 (Suppl 1):8. Kho YC, Rhodes LM, Robertson SJ, Su J, Varigos G, Robertson I, et al. [emedicine.medscape.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]

Albopapuloid epidermolysis bullosa (Pasini's disease) are rare subtypes of this disease. [13] Other genetic [ edit ] OMIM Name Locus Gene 609638 epidermolysis bullosa, lethal acantholytic 6p24 DSP Epidermolysis bullosa acquisita [ edit ] Acral peeling [ edit ] Pathophysiology [en.wikipedia.org]

However, the pathogenesis and pathophysiologic relevance of BD in asthma are poorly understood. Occasionally, nonbronchial systemic arteries or pulmonary arteries bleed. [plantanious.com]

Based on pathophysiology, EB has been classified into three major subtypes that include their own genetic abnormalities: ► EB simplex In EB simplex, the gene that helps make keratin, a fibrous protein in the top layer of skin, is faulty. [physio-pedia.com]

We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology of JEB. [jem.rupress.org]

This assists healing and helps to prevent infection. [skincancer.asn.au]

Prevention It's not possible to prevent epidermolysis bullosa. But you can take steps to help prevent blisters and infection. Handle your child gently. Your infant or child needs cuddling, but be very gentle. [drugs.com]

Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may require calcium and vitamin D supplements to prevent osteoporosis. [dxline.info]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]