Segmental Overgrowth/Vascular Anomalies/Dermatologic Disorders

This study was designed to determine the molecular etiology of disorders characterized by segmental overgrowth, vascular anomalies, or dermatologic conditions that are part of the diagnostic criteria for Proteus syndrome or PIK3CA-related overgrowth spectrum (PROS). Somatic variants in AKT1 or PIK3CA have been identified as causative for Proteus syndrome and PROS respectively, and this study aimed to determine the extent of allelic and genetic heterogeneity in individuals who fully met the diagnostic criteria, had some aspects of, or had isolated manifestations of either syndrome. ]]>
All patients who meet clinical diagnostic criteria for proteus (Biesecker, 2006, PMID: 17127737), or who have demonstrated AKT1 p.Glu17Lys mutations, as well as their biological parents are included. Patients with overgrowth that is not definitively proteus (i.e., who do not appear to meet clinical diagnostic criteria) and their biological parents may also be included. In general, participants may be included who have one or more of the manifestations from the proteus clinical criteria (Biesecker, et al 2006). Patients with cancer but who do not have overgrowth or other non-tumor manifestations of PS or non-PS overgrowth, whose tumors may harbor AKT1, PIK3CA, or other mutations, are excluded. In general, patients who clearly meet diagnostic criteria for a well-characterized overgrowth syndrome that is not PS are excluded. Bannayan-Riley-Ruvalcaba syndrome and PHACES syndrome are examples of such entities.]]>
Twenty-seven individuals have been added to version 2.]]>