Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin

Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering of the skin and late onset of muscular dystrophy, and Ogna epidermolysis bullosa simplex, a rare dominant inherited form of epidermolysis bullosa simplex with no muscular involvement. Here we report a novel homozygous genetic mutation (2727del14) in the plectin gene (PLEC1) associated with a lethal form of recessive inherited epidermolysis bullosa in a consanguineous family with three affected offspring. This new clinical variant of epidermolysis bullosa is characterized by general skin blistering, aplasia cutis of the limbs, developmental complications, and rapid demise after birth. Mutation 2727del14 is the first genetic defect described in PLEC1 that disrupts the plakin domain of plectin. The severe phenotype of the patients may be linked to the role of the N-terminal domain in the function of plectin and develops the understanding of the genotype-phenotype correlations in the genodermatoses affecting the dermal-epidermal junction

The role of the nurse in the care and management of patients with atopic dermatitis

Background The purpose of this paper is to provide an overview of key aspects of specialised dermatology nursing practice in the management of patients with moderate to severe atopic dermatitis. The role of dermatology nurse specialists in supporting patients and promoting disease understanding, education and treatment adherence continues to evolve. As features of specialised nursing care can also inform other nursing staff in a wide range of care settings, an overview of key components is examined. Observations presented are from a pan-European perspective and represent the collected view of a group of dermatology nurse specialists, dermatologists and patient advocates following two round-table discussions. Discussion Atopic dermatitis is a common, chronic, inflammatory disease characterised by erythematous/scaling skin lesions, with often intense pruritus. Disease course is cyclic with periodic disease flares of varying intensity, presenting management challenges to patients and families. Dermatology nurse specialists play a key role in providing education and substantial patient support to improve treatment outcomes and quality of life to patients and their family, delivered within a multidisciplinary team framework. Nurse-led education and ‘eczema schools’ are of benefit in reducing disease severity and improving quality of life by enhancing self-management, adherence and patient engagement. eHealth tools, such as patient portals or online training platforms, can provide online learning, individualised education, and help to improve engagement. These and other initiatives, such as written action plans, are all essential to improve or maintain treatment adherence, self-management and quality of life. Summary Dermatology nurse specialists play a central role in the assessment and management of moderate to severe atopic dermatitis patients and families. This places them in an ideal position to build strong and often long-term relationships with patients and parents. Such engagement promotes trust, assists in setting realistic expectations of treatment and outcomes, and enhances self-management and engagement in their own care. Providing emotional support, as well as formal and systematic education (including individualised practical advice) all contribute to improved treatment adherence and can enhance the quality of life of patients and their families throughout the course of this long-term condition

A call for immediate action to increase COVID-19 vaccination uptake to prepare for the third pandemic winter

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A call for immediate action to increase COVID-19 vaccination uptake to prepare for the third pandemic winter

This Comment piece summarises current challenges regarding routine vaccine uptake in the context of the COVID-19 pandemic and provides recommendations on how to increase uptake. To implement these recommendations, the article points to evidence-based resources that can support health-care workers, policy makers and communicators.</p

Naevi de Spitz acuminés

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Adverse cutaneous drug reactions in AIDS

A maculopapular rash is reported in a girl with AIDS and Pneumocystis carinii pneumonia treated with co-trimoxazole. AIDS patients seem to be at increased risk of adverse drug reactions.SCOPUS: ar.jFLWNAinfo:eu-repo/semantics/publishe

Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine in father and son: Clinical and ultrastructural similarities

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Treatment of epidermolysis bullosa with human cultured epidermal allografts

Junctional epidermolysis bullosa letalis type Herlitz Pearson is a genetically determined, life-threatening disease. Effective therapy has been lacking to date. Therefore any therapy that improves wound healing would be beneficial for these patients. Cultured epidermal grafts are known to enhance wound epithe- lialization and have been used with success in some epidermolysis bullosa disorders. Encouraged by these reports, we grafted cultured allogeneic keratino- cytes to an infant with a junctional epidermolysis bullosa letalis type. © 1994 S. Karger AG, Basel.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Prepubertal melanoma in a medium-sized congenital naevus

A case of malignant melanoma in a medium-sized congenital naevus in a prepubertal girl is presented. Risk factors for developing melanoma during childhood include giant congenital naevi, dysplastic naevus syndrome and xeroderma pigmentosum. The lifetime risk of melanoma associated with giant congenital naevi has been estimated to be 4%-20%; the risk associated with small and medium-sized congenital naevi however remains controversial. In the latter lesions, malignant transformation is considered an almost exclusively postpubertal phenomenon, in contrast to giant congenital naevi where it often occurs prior to puberty. In our patient, malignant transformation in a medium-sized congenital naevus occurred before puberty. We suggest that the true incidence of malignant transformation within these lesions and the time at which it occurs, should be documented by prospective studies and that not only the giant congenital naevi but also the smaller congenital naevi should be considered for prophylactic excision in early childhood. © 1993 Springer-Verlag.SCOPUS: ar.jinfo:eu-repo/semantics/publishe