Family burden of children suffering from epidermolysis bullosa.

BACKGROUND: Living with a rare disease has profound effects on the patient's life and that of their entire family, with practical and psychosocial consequences. This is particularly true when the patient is a child. The principal aim of this study was to measure the family burden in Epidermolysis Bullosa (EB). The secondary endpoint was to evaluate the possible correlation between family burden and the severity of EB. METHODS: A sample of 50 families with one or two children affected by EB were recruited between January 2016 and February 2017 to answer a 20-item questionnaire - the EB Burden of Disease (EB-BoD) - developed and validated to assess the family burden of children with EB. RESULTS: The presence of a child with EB may have profound negative implications on several different areas of daily life. In particular, the results demonstrate important differences between the different subtypes of epidermolysis bullosa regarding most of the categories considered by the questionnaire. For three categories out of four (family life, child's life, economic and social impact), a higher score is observed for children with the more debilitating forms of EB: recessive dystrophic EB (RDEB) and junctional EB (JEB). CONCLUSIONS: It is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations.

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).

BACKGROUND: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. MAIN BODY: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. CONCLUSION: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.