Presentation
In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. [ncbi.nlm.nih.gov]
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]
Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment. [books.google.de]
Jaw & Teeth
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Abnormal Teeth
Symptoms related to Adult junctional epidermolysis bullosa include: Connective tissue symptoms Head abnormality Teeth abnormality Oral Mucosal Blisters Limb abnormality Abdominal abnormality Genitourinary system abnormality Urethra abnormality Immune [familydiagnosis.com]
It is characterized by generalized cutaneous blister formation from birth, nail dystrophy, hair loss, and abnormal teeth. In addition, some patients have large melanocytic nevi that form at sites of prior blisters. [cags.org.ae]
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Selective Tooth Agenesis
Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by [ncbi.nlm.nih.gov]
Musculoskeletal
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Joint Deformity
Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities [ncbi.nlm.nih.gov]
Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). [ghr.nlm.nih.gov]
deformities (contractures) that restrict movement, and eye inflammation leading to vision loss Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing squamous cell carcinoma, which tends [pcds.org.uk]
Good practice points Bone health should be optimized with calcium and vitamin D supplements as needed, maintenance of maximum mobility, minimization of joint deformity and monitoring for/treatment of pubertal delay. [bmcmedicine.biomedcentral.com]
Skin
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Oral Blisters
Those with EBS may have thickened calluses on the palms and soles, oral blistering during infancy and rough, thickened fingernails/toenails. EBS does not usually scar. There are rare recessive forms. [rarediseases.org]
The blisters then occurred only on the extremities and until adult age, no oral blisters developed. The toenails were dystrophic and the finger nails largely normal, despite repeated loss of individual nails. [nature.com]
Oral blistering was rare, and esophagus involvement was not observed. Thus, this patient showed the characteristic clinical phenotype of localized EBD. [academic.oup.com]
Sucralfate suspension has been used to prevent and manage oral blisters in five children, 6- to 11-years-old, with RDEB when applied four times a day for six months [ 99 ]. [bmcmedicine.biomedcentral.com]
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Normal Hair
Patient 3 had the localisata variant of JEB, with predominantly acral blistering and normal hair. [ncbi.nlm.nih.gov]
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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]
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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]
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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]
Treatment
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]
Prognosis
This is a junctional form of EB that, in contrast to EB letalis of Herlitz, has a good prognosis. [jamanetwork.com]
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]
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]
PMID: 17115047 Prognosis Wang H, Yang Y, Zhou J, Cao J, He X, Li L, Gao S, Mao B, Tian P, Zhou A Medicine (Baltimore) 2018 Dec;97(49):e13225. doi: 10.1097/MD.0000000000013225. [ncbi.nlm.nih.gov]
This is critical for therapy, genetic counseling, and prognosis. Genetic counseling: Since these diseases are inherited, genetic counseling is essential. [dermquest.com]
Etiology
The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]
( 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]
Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy Wien New York: Springer Verlag GmbH; 2009:258-277. [ojrd.biomedcentral.com]
Epidemiology
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]
[…] centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care. keywords accesibilidad a servicios de salud access to health care services; epidemiology [researchportal.uc3m.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]
A clinical, genetic and epidemiological study. Baltimore: The Johns Hopkins Press 1971 Google Scholar 6. Gedde-Dahl, Jr., T.: Phenotype-genotype correlations in epidermolysis bullosa. In: Birth Defects, Original article series. Vol. [link.springer.com]
Pathophysiology
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]
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]
Full text Pathophysiology Characteristics: Chronic dilation and distortion of one or more bronchi Extensive inflammation and destruction of the bronchial wall cartilage, blood vessels, elastic tissue and smooth muscle components One or both lungs affected [plantanious.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]
Prevention
The missense mutation G539E allowed synthesis of immunoreactive collagen XVII in keratinocytes, but prevented its secretion, thus causing lack of the protein in the skin. [ncbi.nlm.nih.gov]
This assists healing and helps to prevent infection. [skincancer.asn.au]
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]
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. [mayoclinic.org]