A new approach to Cloves Syndrome treatment

Abstract

Cloves syndrome (ICD Q87.3) is a rare disease included in PROS (PIK3CA-related overgrowth spectrum). This spectrum is formed by a heterogeneous group of rare disorders that overlap in several clinical aspects. In addition the patients within each group are also clinically diverse from each other. All this makes it particularly difficult to create standard diagnosis, follow up and classifications. The latter will become increasingly important now that for the first time clinical trials are being made with drugs that target this pathway. Following on from a complete review of all Cloves in medical literature, the object of this paper is to propose a classification that will serve as a tool when taking therapeutic decisions. This classification takes into account the seriousness of the symptoms, progress and extension of Cloves. The diagram will select those children eligible for treatment with the new drugs that are being used in clinical trials. Categories will be defined which facilitate the taking of therapeutic decisions, distinguishing them from the degree of extension which may not be a factor of the therapeutic options. These categories will also be used as a much needed tool to establish the degree of disability.