[Show abstract][Hide abstract] ABSTRACT: Ectodermal dysplasias (EDs) form a complex and heterogeneous group of diseases currently defined and classified according to their clinical symptoms. The characterization, for several EDs, of the molecular events underlying their development, not only challenges this classification but also opens the door to new therapeutic options such as gene or protein therapy. This article provides a concise overview of the most recent successes and failures of this new type of treatment and sets in perspective how the specificities of given EDs will influence their feasibility in the near future. It makes the case for the need of new classification of EDs that is based on our most recent knowledge of the molecular basis of these diseases.
American Journal of Medical Genetics Part A 09/2009; 149A(9):2042-4. · 2.30 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Pain is an unfortunate constant in the lives of most patients with epidermolysis bullosa (EB), especially for those with the more severe types of EB. Patients with EB have a broad spectrum of need for pain treatment, varying with the type of EB, the severity within that type, and the particular physical, emotional, and psychological milieu of each individual. Prevention of situations that precipitate trauma to the skin or exacerbate other pain-inducing complications of this multifaceted disorder is the primary goal of the treating physician. The approach to pain management is different in daily life, during intermittent exacerbations or injuries, or when hospitalizations or operative procedures occur.
Dermatologic clinics 04/2010; 28(2):273-82, ix. · 1.29 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapies are currently under investigation. This review covers aspects of the molecular biology, clinical presentation, diagnosis, and treatment of epidermolysis bullosa relevant to improving the care for affected patients.
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