Laryngeal stenosis associated with epidermolysis bullosa simplex
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DOI: 10.1016/j.jdcr.2020.02.033
Abstract: Fig 1. A blister on the heel of the child at birth. INTRODUCTION Inherited epidermolysis bullosa is a heterogeneous group of rare genetic diseases characterized by cutaneous or mucosal fragility. The diseases are caused by… read more here.
Keywords: laryngeal stenosis; bullosa simplex; epidermolysis bullosa; epidermolysis ... See more keywords
Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment
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DOI: 10.1016/j.jdcr.2021.03.025
Abstract: EB: epidermolysis bullosa EBS: epidermolysis bullosa simplex INTRODUCTION Epidermolysis bullosa (EB) refers to a group of genetic diseases characterized by blistering in response to minor trauma. It is divided into 3 major categories based on… read more here.
Keywords: simplex clearance; clearance nasopharyngeal; epidermolysis; bullosa simplex ... See more keywords
Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102750
Abstract: More than 107 pathogenic variations were identified in Keratin 14 gene (KRT14) in patients affected by epidermolysis bullosa simplex (EBS), a rare skin disease with still no curative treatment. Disease models as human induced pluripotent… read more here.
Keywords: bullosa simplex; epidermolysis bullosa; pluripotent stem; stem cell ... See more keywords
A review of the clinically distinguishing features of nodular or keloidal scleroderma in systemic sclerosis
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DOI: 10.1111/ajd.13239
Abstract: 1. Fine JD, Bruckner-Tuderman L, Eady RA et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J. Am. Acad. Dermatol. 2014; 70: 1103–26. 2. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic… read more here.
Keywords: epidermolysis; bullosa simplex; epidermolysis bullosa; dermatol ... See more keywords
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14
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DOI: 10.1111/bjd.15053
Abstract: Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin 5 and 14 dimerise to… read more here.
Keywords: digenic inheritance; bullosa simplex; epidermolysis bullosa; krt5 krt14 ... See more keywords
Autosomal recessive epidermolysis bullosa simplex: report of three cases from India
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DOI: 10.1111/ced.13182
Abstract: mainly middle-aged to elderly men, who present with a mass in ≥ 1 anatomical sites, including the pancreas (where it is recognized as autoimmune pancreatitis type I), hepatobiliary tract, orbit, salivary glands, lymph nodes and… read more here.
Keywords: igg4; recessive epidermolysis; bullosa simplex; report ... See more keywords
A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
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DOI: 10.1111/pde.14087
Abstract: Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous… read more here.
Keywords: circinate erythema; migratory circinate; simplex migratory; bullosa simplex ... See more keywords
Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
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DOI: 10.1186/s13023-017-0666-5
Abstract: BackgroundA localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful. The… read more here.
Keywords: bullosa simplex; quality life; epidermolysis bullosa; pain ... See more keywords
Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy.
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DOI: 10.3928/01913913-20180806-03
Abstract: Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis,… read more here.
Keywords: muscular dystrophy; bullosa simplex; epidermolysis bullosa; associated muscular ... See more keywords