[…] 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]

• Strabismus

  [J Pediatr Ophthalmol Strabismus. 2018;55:e26-e29.]. [ncbi.nlm.nih.gov]

• Pharyngeal 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]

• Proximal 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]

• Plantar Hyperkeratosis

  A 22-year-old Japanese woman with Koebner epidermolysis bullosa simplex presented with severe palmo-plantar hyperkeratosis. Skin biopsy specimens from the palm revealed hyperkeratosis and acanthosis with blistering in the basal cell layer. [ncbi.nlm.nih.gov]

  17q12-q21 ( KRT14 ) 601001 Generalized epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar [en.wikipedia.org]

  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]

• 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]

• Anger

  University Hospital, Angers, France. [ncbi.nlm.nih.gov]

  University Hospital, Angers, France References Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. [ojrd.biomedcentral.com]

• Cesarean Section

  He was born by cesarean section after a 39-week gestation because of non-reassuring fetal status. Clinically the proband showed extensive blistering and aplasia cutis on the extremities ( Fig. 2A, B ). [ncbi.nlm.nih.gov]

• Lymphocytic Infiltrate

  We found abundant CD4+ and CD8+ T lymphocytes infiltrating the papillary dermis and lining the dermal-epidermal junction. A number of these cells expressed the activation marker CD69. [ncbi.nlm.nih.gov]

  We found abundant CD4+ and CD8+ T lymphocytes infiltrating the papillary dermis and lining the dermal–epidermal junction. A number of these cells expressed the activation marker CD69. [dx.doi.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]

It is important to emphasize that besides dressings, there are currently no other treatments, therefore, investigators do not prevent an accepted treatment for the patient and there is no risk for the participant. [clinicaltrials.gov]

Jennings JL Aluminum chloride hexahydrate treatment of localized epidermolysis bullosa. Arch Dermatol 1984;120 (10) 1382 PubMed Google Scholar Crossref 2. [jamanetwork.com]

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]

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]

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]

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]

& Vitamin K Antagonists: Anticoagulation Affects on the Clotting Cascade Wilson’s Disease Section 9 - Genodermatoses and Syndromes Addison’s Disease Amyloid Basal Cell Nevus Syndrome Carney Complex Cushing's Syndrome and Disease Cushing's Syndrome: Pathophysiology [euro-libris.ro]

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]

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

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]

Murrell, Diagnosis and Prevention of Bullous Diseases, Preventive Dermatology in Infectious Diseases, 10.1007/978-0-85729-847-8_6, (53-73), (2011). J. Miquel, J. Chevrant-Breton, A. Dupuy, F. Le Gall, E. Bourdon-Lannoy, H. Adamski and C. [dx.doi.org]