BackgroundInherited 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.MethodsAlmost 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.ResultsRecommendations 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.ConclusionThe 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.

Transcutaneous PCO(2) provides a safe and reliable trend-monitoring tool, provided there is no major vasoconstriction.

Surgical repair of craniosynostosis carries a high risk with large blood losses. Over a 2-yr period, we have managed 115 patients undergoing craniosynostosis repair with peroperative haemodilution to achieve a final PCV of 0.28-0.35. Measurements of PCV allowed calculation of estimated blood losses and transfused volumes in terms of red blood cell mass. Total estimated red cell volume lost was 91 +/- 66% of patient's estimated red blood cell volume during the peroperative period. The type of skull deformation and surgical procedure determined the extent of peroperative bleeding. Peroperative transfusion was satisfactory in 48% of patients and slight overtransfusion was noted in 32%. During the postoperative period, liberal administration of blood led to overtransfusion and possibly unnecessary transfusion in 74% of patients. Because of the well known risks of transmission of infectious disease, strict volume compensation with development of haemodilution and autotransfusion procedures should be used to limit these risks.