Peerview Video
The following video is from Peerview, a medical educational provider. It brings up the importance of an emergency plan for our POH patients should they be in an emergency situation. Do you have a plan?
Check out the next video in our #FibrodysplasiaOssificansProgressiva (#FOP) video series: “Patient and Caregiver Roles at the Center of the Multidisciplinary FOP Care Team” with Matthew T. Drake, MD, PhD. Produced with partners @PeerView, The @International FOP Association (IFOPA), and @The American Society for Bone and Mineral Research. Watch now! https://bit.ly/3QEWE6D #IFOPA #BoneDisease #FOPAwareness #CureFOP #Healthcare #MedEd
POHA Symposium Presentation
Here is a link to the video of Dr Fred Kaplan's and Dr Eileen Shore's POHA Symposium presentation.
https://drive.google.com/file/d/1ffZszRuW2blIU9v-NaGcGWA_eF58HzJA/view?usp=sharing
Review Articles
Pignolo R, Ramaswamy G, Fong J, Shore E, Kaplan F. Progresssive osseous heteroplasia:
diagnosis, treatment, and prognosis. Appl Clin Genet. 2015; 8: 37-48.
Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev
Rheumatol. 2010;6: 518-527.
Shore, E.M. and F.S. Kaplan. Insights from a rare genetic disorder of extra-skeletal bone
formation, fibrodysplasia ossificans progressiva (FOP). Bone. 2008; 43: 427-433.
Shore E.M. and F. S. Kaplan.FOP and POH: Two Genetic Disorders of Heterotopic
Ossification. Clinical Reviews in Bone and Mineral Metabolism.2005: 3, 257-260.
Kaplan FS, Shore EM. Progressive osseous heteroplasia. J Bone Miner Res. 2000; 15:
2084-2094.
Stoll C, Javier MR, Bellocq JP. Progressive osseous heteroplasia: an uncommon cause of
ossification of soft tissues. Ann Genet. 2000; 43: 75-80.
Journal Articles
Ware, A.D., N. Brewer, E. McCarthy, E.M. Shore, and A.W. James. Differential vascularity
in genetic and non-genetic heterotopic ossification. International J. Surg. Pathology 2019;
27: 859-867.
Ramaswamy, G., J. Fong, N. Brewer, H. Kim, D. Zhang, Y. Choi, F.S. Kaplan, and E.M.
Shore. Ablation of Gsa signaling in osteoclast progenitor cells adversely affects skeletal
bone maintenance. Bone 2018; 109: 86-90.
Ramaswamy, G., H. Kim, D. Zhang, V. Lounev, J.Y. Wu, Y. Choi, F.S. Kaplan, R.J.
Pignolo, and E.M. Shore. Gsα Controls Cortical Bone Quality by Regulating Osteoclast
Differentiation via cAMP/PKA and β-Catenin Pathways. Scientific Reports 2017; 7:
45140; doi:10.1038/srep45140.
Regard, J.B., D. Malhotra, J. Gvozdenovic-Jeremic, M. Josey, M. Chen, L.S. Weinstein,
E.M. Shore, F.S. Kaplan, and Y. Yang. Activation of Hedgehog signaling by loss of GNAS
causes heterotopic ossification. Nature Medicine. 2013; 19: 1505-1512.
Cairns, D.M., R.J. Pignolo, T. Uchimura, T.A. Brennan, C.M. Lindborg, M. Xu, F.S.
Kaplan, E.M. Shore, and L. Zeng. Somitic disruption of GNAS in chick embryos mimics
progressive osseous heteroplasia. J. Clinical Invest. 2013; 123: 3624-3633.
Zhang, S. F.S. Kaplan, E.M. Shore. Different roles of Gnas and cAMP signaling during
early and late stages of osteogenic differentiation. Hormone Metab. Res. 2012; 44: 724-
731.
Liu, J., E. Russell, D. Zhang, F.S. Kaplan, R.J. Pignolo, and E.M. Shore. Paternally
inherited Gsa mutation impairs adipogenesis and potentiates a lean phenotype in vivo.
Stem Cells. 2012; 30: 1477-1485
Pignolo RJ, Xu M, Russell E, et al. Heterozygous inactivation of Gnas in adipose-derived
mesenchymal progenitor cells enhances osteoblast differentiation and promotes
heterotopic ossification. J Bone Miner Res. 2011; 26: 2647-2655.
Schimmel RJ, Pasmans SG, Xu M, Stadhouders-Keet SA, Shore EM, Kaplan FS, Wulfraat
NM. GNAS-associated disorders of cutaneous ossification: two different clinical
presentations. Bone. 2010; 46: 868-872.
Adegbite, NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Clinical features, GNAS
mutational analysis, and diagnostic criteria for progressive osseous heteroplasia (POH)
and POH-like syndromes. Amer. J. Med. Genet. 2008; 146A: 1788-1796.
Gelfand, I., Hub RS, Shore EM, Kaplan FS, DiMeglio LA. Progressive Osseous
Heteroplasia-Like Heterotopic Ossification in a Male Infant with
Pseudohypoparathyroidism Type Ia: A Case Report. Bone. 2007; 40: 1425-1428.
Kaplan FS, Glaser DL, Hebela N, Shore EM. Heterotopic ossification. J Am Acad Ortho
Surg. 2004; 12: 116-125.
Faust, RA, Shore EM, Stevens CE, Xu M, Shah S, Phillips CD, and Kaplan FS. Progressive
osseous heteroplasia in the face of a child. Amer. J. Med. Genet. 2003; 118A: 71-75.
Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the
GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002; 346: 99-106.
Rosenfeld SR, Kaplan FS. Progressive osseous heteroplasia in male patients: Two new
case reports. Clin Orthop. 1995; 317: 243-245.
Kaplan FS, Hahn JV, Zasloff MA. Heterotopic ossification: two rare forms and what they
can teach us. J Am Acad Orthop Surg. 1994; 2: 288-296.
Schmidt AH, Vincent KA, Aiona MD. Hemimelic progressive osseous heteroplasia: a case
report. J Bone Joint Surg Am. 1994; 76: 907-912.
Athanasou NA, Benson MK, Brenton BP, Smith R. Progressive osseous heteroplasia: a
case report. Bone. 1994; 15: 471-475.
Kaplan FS, Craver R, MacEwen GD, et al. Progressive osseous heteroplasia: a distinct
developmental disorder of heterotopic ossification. Two new case reports and follow-up of
three previously reported cases. J Bone Joint Surg Am. 1994; 76: 425-436.
Internet
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The
Johns Hopkins University; Entry No: 166350 available at http://omim.org/entry/166350 Last Edit: 10/1/13. Accessed August 13, 2020.
Years Published
1996, 2002, 2008, 2009, 2011, 2014, 2017, 2020
The information in NORD’s Rare Disease Database is for educational purposes only and is not
intended to replace the advice of a physician or other qualified medical professional.
