Monday, July 20, 2009
Specialist Trip to Washington D.C.
We met with Dr. Stensel on Saturday morning for our evaluation. He doesn't think Makenna has CMTC...but gave us other ideas on what it could be. He said that children with CMTC met developmental milestones, were not cognitively behind, basically CMTC is on a spectrum that is of overgrowth syndromes. M-CMTC is first, then CMTC, then KTW, Proteus and so on of overgrowth syndromes. Children with classic CMTC have very prominient facial markings, especially above the eye and lips. CMTC impacts more of vascular issues and has not been linked to gross motor, cognitive or developmental delays. In regards to kidneys, cysts, and heart these complications are not linked with CMTC, but manifest in other syndromes such as:Congenital Lipomalous Overgrowth Vascular Malformation, Epidermal Nevi (CLOVE syndrome)Cowden Disease----this one speaks of ovary cysts you asked about. Here is the link to an article I found today. http://emedicine.medscape.com/article/1093383-overview Linear sebaceous Nevus SyndromJadaddohn/Schimmel- Penning-Eeserstenin Phakomatosis pigmeule-vascularisHe suggested to look into getting a skin biopsy for Makenna and parts of her skin that have the epidermal nevi. To also look for chromosomal abnormalities in affected vs unaffected areas of skin. and complete an experiemental SNP array, and look for the FGFR3 and or PI3K of affected skin with epidermal nevi.