Open Access. Powered by Scholars. Published by Universities.®

Musculoskeletal Diseases Commons™

Open Access. Powered by Scholars. Published by Universities.®

Articles 1 - 8 of 8

Full-Text Articles in Musculoskeletal Diseases

Investigating The Role Of The Fascia In The Development Of Fibrodysplasia Ossificans Progressiva (Fop), Liv Nevo May 2026

Investigating The Role Of The Fascia In The Development Of Fibrodysplasia Ossificans Progressiva (Fop), Liv Nevo

Honors Scholar Theses

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder that primarily affects connective and muscle tissues. It is characterized by heterotopic ossification (HO), which is the formation of bone tissue where it does not normally form. HO can be triggered by physical trauma, infection, inflammation, or stress. The formation of HO leads to impaired muscle function and reduced patient quality of life. Concurrently, the loss of muscle function indicates there is an impairment in the ability of the muscle to regenerate effectively. The most common genetic cause of FOP is an arginine-to-histidine substitution within the type I bone morphogenic protein …


Medical Guidelines For Fibrodysplasia Ossificans Progressiva, Frederick S. Kaplan, Mona Al Mukaddam, Genevieve Baujat, Alberto Hidalgo Bravo, Matthew Brown, Amanda Cali, Tae-Joon Cho, Corrie Crowe, Carmen L. De Cunto, Patricia L. R. Delai, Robert J. Diecidue, Elisabeth Marelise W Eekhoff, Lisa Friedlander, Clive S. Friedman, Zvi Grunwald, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Joseph A. Kitterman, Charles Levy, Vrisha Madhuri, Rolf Morhart, J. Coen Netelenbos, Christiaan Scott, Eileen M. Shore, Michael Zasloff, Keqin Zhang, Robert J. Pignolo Sep 2025

Medical Guidelines For Fibrodysplasia Ossificans Progressiva, Frederick S. Kaplan, Mona Al Mukaddam, Genevieve Baujat, Alberto Hidalgo Bravo, Matthew Brown, Amanda Cali, Tae-Joon Cho, Corrie Crowe, Carmen L. De Cunto, Patricia L. R. Delai, Robert J. Diecidue, Elisabeth Marelise W Eekhoff, Lisa Friedlander, Clive S. Friedman, Zvi Grunwald, Nobuhiko Haga, Edward C. Hsiao, Richard Keen, Joseph A. Kitterman, Charles Levy, Vrisha Madhuri, Rolf Morhart, J. Coen Netelenbos, Christiaan Scott, Eileen M. Shore, Michael Zasloff, Keqin Zhang, Robert J. Pignolo

Department of Oral and Maxillofacial Surgery Faculty Papers

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic condition characterized by congenital malformations of the great toes and progressive heterotopic ossification (HO) in specific anatomic patterns. Present management summarized here is focused on early diagnosis, assiduous avoidance of injury and iatrogenic harm, symptomatic amelioration of painful flare-ups, and optimization of residual function. Twenty-one members of the International Clinical Council on FOP (ICC) and seven consultants from 15 countries, chosen for their clinical expertise in FOP, developed this summary statement. Further advances in therapeutics will be based on rigorous clinical trials to assess novel and emerging treatment and prevention strategies. A …


The Effect Of Fibrodysplasia Ossificans Progressiva On The Tongue, Amy Backal, Amanda Harrop, David J. Goldhamer Dr. Jun 2022

The Effect Of Fibrodysplasia Ossificans Progressiva On The Tongue, Amy Backal, Amanda Harrop, David J. Goldhamer Dr.

University Scholar Projects

FOP is a rare genetic disorder in which skeletal muscle and associated connective tissue progressively turn to bone through a process called heterotopic ossification (HO). The extra skeletal bone growth is cumulative, eventually trapping patients in a second skeleton that eventually leads to death by asphyxiation. The FOP mutation is autosomal dominant that can be inherited or acquired sporadically. Unfortunately, FOP is currently incurable with no therapeutic options to inhibit bone growth or reduce existing bone nodules. My project intends to further our understanding of the cellular mechanisms of the disease within the tongue muscle. A population of cells known …


The Effect Of Fibrodysplasia Ossificans Progressiva On The Tongue, Amy Backal, Amanda Harrop, David J. Goldhamer Dr. Jun 2022

The Effect Of Fibrodysplasia Ossificans Progressiva On The Tongue, Amy Backal, Amanda Harrop, David J. Goldhamer Dr.

Honors Scholar Theses

FOP is a rare genetic disorder in which skeletal muscle and associated connective tissue progressively turn to bone through a process called heterotopic ossification (HO). The extra skeletal bone growth is cumulative, eventually trapping patients in a second skeleton that eventually leads to death by asphyxiation. The FOP mutation is autosomal dominant that can be inherited or acquired sporadically. Unfortunately, FOP is currently incurable with no therapeutic options to inhibit bone growth or reduce existing bone nodules. My project intends to further our understanding of the cellular mechanisms of the disease within the tongue muscle. A population of cells known …


When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha May 2022

When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha

University Scholar Projects

While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …


When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha May 2022

When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha

Honors Scholar Theses

While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …


Painful Proximal Oriented Large Heterotopic Spur Formation In An Active Adult Non-Traumatic Amputee, Jack Annunziato, Daniel Shor, Shailesh Parikh May 2019

Painful Proximal Oriented Large Heterotopic Spur Formation In An Active Adult Non-Traumatic Amputee, Jack Annunziato, Daniel Shor, Shailesh Parikh

Rowan-Virtua Research Day

Heterotopic ossification (HO) is excess bone growth in soft tissues, typically juxta-articular and interfascicular, with varying incidence. HO has been well documented in traumatic amputees but less frequently observed in the non-traumatic amputee population. Symptomatic HO usually includes pain during prosthetic use, with management involving prosthetic adjustments for comfort. This atypical case highlights a non-traumatic amputee developing proximal oriented large spur formation that was painful not with ambulation but with doffing of his prosthesis.


Heterotopic Ossification: Cellular Basis, Symptoms, And Treatment, Brian Wolfe Apr 2012

Heterotopic Ossification: Cellular Basis, Symptoms, And Treatment, Brian Wolfe

Senior Honors Theses

Heterotopic ossification (HO) is the process by which calcified bone develops in soft tissues. Because of the abnormal calcification, complications such as bone deformation, loss of range of motion, and joint immobility adversely affect patients. There are many genetic types of heterotopic ossification, namely fibrodysplasia ossificans progressiva, progressive osseous heteroplasia, and Albright hereditary osteodystrophy. However, this condition can also arise from surgery, burns, or traumatic injuries, so it is seen as an important area for research in the future. There are various treatments available such as non-steroidal anti-inflammatory drugs and radiation therapy, as well as combinations of the two. The …