European Consensus recommendations on lymphedema in Phelan-McDermid syndrome

European Consensus recommendations on lymphedema in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10-25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations.

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Guidelines on the Management of Cellulitis in Lymphedema

Guidelines on the Management of Cellulitis in Lymphedema

This guidance is mainly intended to support primary health care professionals but should also be of value to those working in specialist lymphoedema services. It has been produced by a consensus group (membership listed on page 11) with an annual literature review for new evidence.  Disclaimer: These recommendations do not discuss how lymphedema interacts with other pathologies and only a few select medications are reviewed. These guidelines were recommended for a population that did not necessarily have chromosome abnormalities. Discuss treatment management and drug interactions with your physician.

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