[…] at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present. [1] : 598 [2] : 556 17q12-q21 ( KRT5 ), 12q13 ( KRT14 ) 131900 Localized epidermolysis bullosa simplex [en.wikipedia.org]

Genetic sequencing revealed a heterozygous G138E KRT5 variant, present in approximately 10% of the European population and only rarely associated with pathology. [ncbi.nlm.nih.gov]

Company also presents findings from proof-of-concept study of diacerein 1% ointment at 47 th Annual ESDR Meeting 2017. [castlecreekpharma.com]

• Weakness

  He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity. [ncbi.nlm.nih.gov]

  Weakness of the protein is caused by a minor abnormality (a mutation) in the gene responsible for producing that protein. [britishskinfoundation.org.uk]

  […] published October 11, 2016, DOI: https://doi.org/10.1212/NXG.0000000000000109 Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness [ng.neurology.org]

• Falling

  Falls Sie bereits registriert sind, melden Sie sich bitte an. Andernfalls können Sie sich jetzt kostenlos registrieren. Bitte vervollständigen Sie Ihre Registrierung, um auf alle Artikel und Bilder zuzugreifen. [enzyklopaedie-dermatologie.de]

  Talia Williams suffers from Epidermolysis Bullosa Simplex - a rare condition that causes her skin to fall away at the slightest knock - leaving her with huge sores. [dailymail.co.uk]

  So as a result, the top layer of skin falls apart, resulting in a blister. Although EB Simplex is considered a non-scarring form of EB, secondary infection may cause scarring. EB Simplex is usually inherited as an autosomal dominant condition. [debra.org]

  Keratin proteins function as the scaffolding for the skin, and so when this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters. EB Simplex can be split up into two main types, Generalized and Localized. [med.stanford.edu]

  When this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters. EB Simplex can be split up into two main types, Generalized and Localized. Blistering occurs all over the body in Generalized EB Simplex. [stanfordchildrens.org]

• Failure to Thrive in Infancy

  Internal blistering in the mouth and the esophagus can affect nutrition, potentially leading to failure to thrive in infancy. Blistering and scarring can also affect vision, and lead to tooth disease. [epidermolysisbullosanews.com]

  […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Palmoplantar keratoderma Thickening of palms and soles 0000982 Pyloric stenosis 0002021 Skin ulcer Open skin sore 0200042 5%-29% of people have these symptoms [rarediseases.info.nih.gov]

• Failure to Thrive

  Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. [paperity.org]

  […] to thrive, esophageal strictures and debilitating hand and foot deformities Diagnosis : usually requires focused lab testing, such as transmission EM (“gold standard”), immunofluorescence antigen mapping or immunohistochemical staining with EB-specific [pathologyoutlines.com]

  Internal blistering in the mouth and the esophagus can affect nutrition, potentially leading to failure to thrive in infancy. Blistering and scarring can also affect vision, and lead to tooth disease. [epidermolysisbullosanews.com]

  Sepsis, respiratory failure and failure to thrive are the main causes. [ 26 ] Some subtypes, especially the milder EB forms, improve with age. [ 3 ] [patient.info]

• Dental Caries

  Regular dental visits are required for EB patients as good oral hygiene is essential, especially in patients with DEB and JEB, who are more prone to developing dental caries. [news-medical.net]

  Dental caries (cavities) - This is more common in people affected with RDEB or JEB however, if mouth care is not performed regularly it will increase chances of cavities. [debra.org]

  Despite their best efforts, many patients with junctional epidermolysis bullosa and dystrophic epidermolysis bullosa develop dental caries because of enamel defects. [emedicine.medscape.com]

  Good dental hygiene and regular dental checks are recommended. Many patients with JEB and DEB develop dental caries because of enamel defects. Oral mucosal involvement can accompany severe forms of JEB and DEB. [patient.info]

• Muscle Weakness

  He was re-evaluated at age 17 and demonstrated significant ptosis, ophthalmoparesis, and pharyngeal muscle weakness. He had predominant proximal muscle weakness with the inability to raise arms against gravity. [ncbi.nlm.nih.gov]

  One subtype of EBS (EBS with muscular dystrophy) is characterized by variably severe, progressive muscle weakness, beginning either at birth or later in childhood or adulthood. [dermatologyadvisor.com]

• Skin Disease

  Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. [ncbi.nlm.nih.gov]

  ▶ All human skin disorders and treatment ▶ Self care of Skin Disease ▶ Skin cancer diseases ▶ Bacterial diseases ▶ Fungal diseases ▶ Sun effective diseases ▶ Itchy skin problem app ▶ Disease list &skin look of children disease/disorder ▶ Excellent UI [play.google.com]

• Alopecia

  It remains to be elucidated whether diffuse alopecia results from PLEC mutations and/or from environmental factors. [ncbi.nlm.nih.gov]

  Branco, Raquel Senra, Ângela Reis-Rego and Luisa Mota-Vieira, A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report, BMC Dermatology, 10.1186 [dx.doi.org]

  Murrell, Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review, Pediatric Dermatology,, (2019). [oadoi.org]

• 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]

• Excoriation

  The deactivations of the cingulate cortex after excoriation in healthy subjects was also determined. [go.galegroup.com]

• Suggestibility

  In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications [paperity.org]

  Our study suggests that protein-protein binding defects may underlie EB in patients with unidentified disease-causing sequence variants. [ncbi.nlm.nih.gov]

• Kidney Failure

  Some rare forms of DEB, called generalized DEB, may lead to chronic kidney failure and skin cancer. People with DEB are particularly prone to aggressive forms of a skin cancer called squamous cell carcinoma (SCC), which can be fatal. [epidermolysisbullosanews.com]

In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications [paperity.org]

In this report, we present the case of a 77-year-old woman with a history of palmoplantar keratoderma who developed a transient EBS-MP-like phenotype associated with bexarotene treatment for cutaneous T-cell lymphoma. [ncbi.nlm.nih.gov]

Treatment or Management of the Condition There is no cure for this disease therefore, treatment is a constant process. The main goal of treatment is to keep the skin protected to prevent new blisters from forming. [wiki.ggc.edu]

Prognosis Prognosis is highly dependent on the subtype. Most patients have a normal life expectancy but significant morbidity and even early death may occur in some subtypes. [orpha.net]

In conclusion, genotype-based prognosis should be given to patients with caution. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. KEYWORDS: G138E; KRT14; epidermolysis bullosa simplex; hyperkeratosis; molecular dynamics [ncbi.nlm.nih.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]

Abstract Epidermolysis bullosa (EB) comprises a heterogeneous group of genodermatoses whose prognosis is variable. The diagnosis is suggested by prenatal ultrasound at signs, especially for junctional EB with pyloric atresia. [elsevier-masson.com]

The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. [ncbi.nlm.nih.gov]

Etiology EBS is caused by genetic mutations in specific genes depending on the subtype. Diagnostic methods Diagnosis is based on determination of the epidermal level within which blisters develop following minor skin traction. [orpha.net]

We conclude that GGT deficiency may be etiologically related to this disease in some families, but that different defects must be the cause in other cases. (N Engl J Med. 1981; 304: 197–204.) [nejm.org]

As will be discussed elsewhere, rigorous epidemiological case finding methods were used to identify and recruit participants throughout the United States. [dx.doi.org]

Our data give further insight into the natural history of EBS molecular pathology, epidemiology and mutation origin. KEYWORDS: Epidermolysis bullosa simplex (EBS); KRT14; KRT5 [ncbi.nlm.nih.gov]

Summary Epidemiology Reported prevalence ranges from 1/215,000 in the USA to 1/35,000 in Scotland. [orpha.net]

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]

Jo-David Fine, Christopher Lanschützer, Helmut Hintner, 2009 2 Epidermolysis bullosa : clinical, epidemiologic, and ... [educalingo.com]

The discovery of the etiology and pathophysiology of EBS was intimately linked to the quest for an understanding of the properties and function of keratin filaments in skin epithelia. [ncbi.nlm.nih.gov]

Pathophysiology of EB simplex: straightforward, and yet... [dx.doi.org]

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]

Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. [paperity.org]

Air-conditioning may help in preventing disease worsening in warm weather. [orpha.net]

The main goal of treatment is to keep the skin protected to prevent new blisters from forming. Avoiding skin trauma and infections as well as keeping the patient comfortable are also important. [wiki.ggc.edu]

[…] bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. [3]Blister formation of EBS occurs at the dermal-epidermal junction.[4] Cause[edit] Epidermolysis bullosa simplex is caused by genetic mutations that prevent [en.wikipedia.org]

Completely preventing blisters is not possible. Once they form, blisters should be lanced and drained to prevent them from becoming larger. [my46.org]