Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.

UNLABELLED: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial, we evaluated a 4-month oral EGCG treatment regimen in 17 RDEB patients. We found that EGCG treatment was not more effective than placebo in modified intention to treat and per protocol analysis (n = 16; p = 0.78 and n = 10; p = 1 respectively). Tolerance was good. Specific organizational and technical difficulties of controlled randomized double-blind trials in EB patients are discussed. TRIAL REGISTRATION: US National Institutes of Health Clinical Trial Register ( NCT00951964 ).

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.

BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible in all EB subtypes and required for prenatal diagnosis. The extent of skin and mucosal lesions varies greatly depending on EB subtype and patient age. In the more severe EB subtypes lifelong generalized blistering, chronic ulcerations and scarring sequelae lead to multiorgan involvement, major morbidity and life-threatening complications. In the absence of a cure, patient management remains based on preventive measures, together with symptomatic treatment of cutaneous and extracutaneous manifestations and complications. The rarity and complexity of EB challenge its appropriate care. Thus, the aim of the present study has been to generate multicentre, multidisciplinary recommendations on global skin care addressed to physicians, nurses and other health professionals dealing with EB, both in centres of expertise and primary care setting. METHODS: Almost no controlled trials for EB treatment have been performed to date. For this reason, recommendations were prepared by a multidisciplinary team of experts from different European EB centres based on available literature and expert opinion. They have been subsequently revised by a panel of external experts, using an online-modified Delphi method to generate consensus. RESULTS: Recommendations are reported according to the age of the patients. The major topics treated comprise the multidisciplinary approach to EB patients, global skin care including wound care, management of itching and pain, and early diagnosis of squamous cell carcinoma. Aspects of therapeutic patient education, care of disease burden and continuity of care are also developed. CONCLUSION: The recommendations are expected to be useful for daily global care of EB patients, in particular in the community setting. An optimal management of patients is also a prerequisite to allow them to benefit from the specific molecular and cell-based treatments currently under development.

[Education on caring for children with inherited epidermolysis bullosa]. / L'éducation aux soins des enfants atteints d'épidermolyse bulleuse héréditaire.

Inherited epidermolysis bullosa is a rare dermatological disease that requires specific daily care. An education programme teaches parents how to bathe their children in optimal conditions described in a care protocol that encourages contact and promotes the parent-child relationship.

A pretibial plaque in a five and a half year-old girl.

A five and a half year-old girl presented with a reddish-brown plaque on her right anterior tibia, first observed 1 year previously and without any history of injury or insect bite. Histological examination showed a dense dermal infiltrate composed of plasma cells and small lymphocytes, combined with lymphocytic exocytosis in the epidermis and interface dermatitis. In addition, a second biopsy found small epithelioid granulomas within the lymphoplasmocytic infiltrate. Infection was ruled out. No clonality was found. None of the treatments attempted was successful (antibiotics and steroids), and the lesion was stable but did not improve for 4 years. The same features typical of lymphoplasmocytic pseudolymphoma were observed on a third biopsy. A diagnosis of "pretibial lymphoplasmocytic plaque" was made on the basis of clinical and histological findings. Recently, 3 other cases of this type of lymphocytic and plasma cell cutaneous infiltrate with very distinctive clinical and histopathological features have been reported in children. Our case is instructive because it presents new and as yet undocumented histopathologic features including a lichenoid reaction with vacuolization of the basal cell layer and numerous apoptotic bodies, apparent in 2 of the 3 biopsies, and hypervascularity with thick-walled blood vessels lined with plump endothelial cells in the upper dermis. The clinicopathological presentation of these cases, including ours, is homogenous suggesting a specific entity described as "pretibial lymphoplasmocytic plaque in children". This seems to be a benign, chronic, reactive process, probably arising secondary to a local response to an unknown antigen.

CEMARA an information system for rare diseases.

Rare diseases cover a group of conditions characterized by a low prevalence, affecting less than 1 in 2,000 people; 5000 to 7000 rare diseases have been currently identified in Europe. Most diseases do not have any curative treatment. They represent thus an important public health concern. CEMARA is based on a n-tier architecture. Its main objective is to collect continuous and complete records of patients with rare diseases, and their follow-up through a web-based Information System, and to analyse the epidemiological patterns. In France, 41 out of 131 labelled Reference Centres (RC) are sharing CEMARA. Presently 56,593 cases have been registered by more than 850 health care professionals belonging to 171 clinical sites. The national demand of care was explored in relation with the offer of care in order to reach an improved match. Within 2 years, CEMARA stimulated sharing a common platform, a common ontology with Orphanet and initiating new cohorts of rare diseases for improving patient care and research.

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in Europe are affected. It is a true public health stake since most diseases do not have any curative treatment. In France, the Ministry of Health has initiated a National Rare Diseases Plan. Twenty five out of 132 labelled Reference Centres (RC) decided to share a common Information System named CEMARA. It is dedicated to collect continuous and complete records of all patients presenting with a rare disease, and their follow-up. The main objective of CEMARA is to contribute to the missions of the RC regarding the registration and description of their activities, coordination of the network of their correspondents, organization of the follow-up of rare diseases, and analysis of the epidemiological patterns. A description of CEMARA is provided as well as its cooperation with Orphanet and Genatlas, and a presentation of 11803 current records collected by more than 300 health care professionals belonging to more than 70 sites.

[Atopic dermatitis in children]. / Eczéma atopique de l'enfant.

Atopic dermatitis is a chronic inflammatory and recurrent dermatosis, the frequency of which increases regularly in industrialised countries. It begins in the first months of life and the clinical presentation changes with the age of the child. The diagnostic is clinical in the majority of cases. Sometimes allergological explorations are necessary. The treatment has two objectives: treatment of the flares (mainly topical corticosteroids) and preventive adjuvant measures. The use of topical immunosuppressors reinforces the therapeutic management, after failure of topical corticosteroids.