• Thank you – Charlie Harles, Dan Levine, Cindi Levin, Amanda Konradi, NYU, Dr. Gail Chorney, Ranit Shirky – All of the Doctors • Meet with doctors • Tight schedule 1938 • 1933 – 1937, 32 different names • “…perverted activity of the specific bone-forming mesenchyme.” Lichtenstein & Jaffe, 1943 young patient older patient Café-au-lait Hyperthyroid Precocious puberty Gigantism/ Acromegaly Fibrous dysplasia Cushings Rickets/ Osteomalacia Others Any combination of two or more of these typical findings = MAS These can occur in any combination Marked variability in severity and treatment Fibrous dysplasia Café-au-lait Precocious Pub. Thyroid Phosphate Growth hormone Cushings not visible yet Age causes problems can go away on its own How do you diagnose FD/MAS? (Kelly, OI, 2008) % of disease present Craniofacial Extremity (spine, ribs, pelvis) 90% 3.4* 13.7 15.5 Axial When do fractures occur in FD • fracture rate is highest in childhood Fracture rate (mean # fractures/patient/year) 0.5 • fracture rate persists into adulthood 0.45 • marked variability between people 0.4 • variability is related to endocrine problems 0.35 • low blood phosphorus has the largest effect 0.3 0.25 0.2 0.15 0.1 0.05 0 0-5 6-10 11-15 16-20 21-25 26-30 31-35 36-50 Ages (years) Leet JBMR 2004 • FD of the spine is common (63%) • scoliosis is common (40%) • functional deficits are rare • progression can be stopped by rods Quality of life in adults with FD/MAS • Adults Mental Health Role-Emotional Physical Function * 50 40 30 20 10 0 Social Function Role-Physical * MAS/FD POPULATION NATIONAL NORMS Bodily Pain * General Health * Vitality * = p < 0.05 MAS vs US norms Kelly, Bone, 2005 Quality of life in children with FD/MAS • Children Physical Function * 100 Behavior Role-Physical * 80 60 40 Mental Health General Health * 20 0 Self Esteem MAS US Children Bodily Pain * Parental Emotional * Role-Emotional * Parental Time * = p < 0.05 MAS vs US Kelly, Bone, 2005 Acknowledgement of the work of………. NIH FD Studies: Pam Robey, Paolo Bianco, Shlomo Wientroub Nursing support – Lori Guthrie, Marilyn Kelly, Beth Brillante, Donna Kelly Former fellows/trainees – Janice Lee, Arabella Leet, Sunday Akintoye, Caroline Chebli, Navid Ziran, Anurag Gupta, Carolee Cutler, Azar Khosravi, Elizabeth Hart, Panagiota Andreopoulou NIH collaborators – Alison Boyce, Nisan Bhattacharyya, Lee Weinstein, Natasha Cherman, Jaime Brahim, John Butman, Ed FitzGibbon, Jeff Kim, Scott Paul, Clara Chen, Tom Shawker In Memory of