Fibrodysplasia ossificans progressiva is an ultrarare disorder of endochondral ossification. It is unfamiliar to most care providers in low-income countries such as Ethiopia. Even though the clinical presentation is typical, most cases remain misdiagnosed in our region. Moreover, we hypothesize that many such cases undergo unnecessary or harmful interventions for a painless lump. In Ethiopia, with a population of approximately 120 million, only one case has been reported in the literature so far. We present two cases that were referred to our institution for a biopsy of a mass. This report is aimed at summarizing the typical presentation of the disease and at highlighting the harmful interventions one should avoid in such patients. We also hope that this report serves as an entry point to try to find more patients with this similar condition early in their clinical course. Furthermore, we believe that in order to lessen the overall impact of the illness, it is crucial to provide caregivers with health education about the causes of disease flare-ups.
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http://dx.doi.org/10.1155/cro/2161762 | DOI Listing |
JBMR Plus
April 2025
Otorhinolaryngology Unit, IRCCS Istituto Giannina Gaslini, 16132 Genova, Italy.
Fibrodysplasia ossificans progressiva (FOP) is the most dramatic form of progressive heterotopic ossification of soft tissues. Hearing impairment in FOP patient is a common feature, reported by about 50% of affected patients. However, wide case series considering audiologic features are lacking.
View Article and Find Full Text PDFCureus
January 2025
Internal Medicine, Coimbra Local Health Unit (ULS Coimbra), Coimbra, PRT.
Progressive osseous heteroplasia (POH) is an exceptionally rare genetic disorder characterized by progressive heterotopic ossification of cutaneous, subcutaneous, and deep connective tissues. Most cases are associated with paternally inherited inactivating mutations in the guanine nucleotide-binding protein, alpha-stimulating gene. However, the genetic basis remains undefined in a subset of patients, adding further complexity to its pathogenesis.
View Article and Find Full Text PDFCase Rep Orthop
January 2025
Tikur Anbessa Specialized Hospital, Department of Orthopaedics, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Fibrodysplasia ossificans progressiva is an ultrarare disorder of endochondral ossification. It is unfamiliar to most care providers in low-income countries such as Ethiopia. Even though the clinical presentation is typical, most cases remain misdiagnosed in our region.
View Article and Find Full Text PDFExpert Opin Pharmacother
February 2025
Department of Internal Medicine, Section Endocrinology and Metabolism - Rare Bone Disease Center, Amsterdam University Medical Center (Amsterdam UMC), location VU University Medical Center (VUMC), Amsterdam, Netherlands.
Introduction: Palovarotene is a retinoic acid receptor gamma agonist that was studied in phase-2 and phase-3 clinical trials for the inhibition of new heterotopic ossification (HO) in fibrodysplasia ossificans progressiva (FOP). Despite numerous setbacks and regulatory delays, palovarotene is now the first approved FOP treatment in the U.S.
View Article and Find Full Text PDFThe 24 Annual Santa Fe Bone Symposium (SFBS) was held in Santa Fe, New Mexico, USA, on August 2-3, 2024. This was a "hybrid" meeting, with in-person and real-time remote participants representing a broad range of geographical locations and medical disciplines. The focus was on new developments in the care of patients with osteoporosis, other metabolic bone diseases, and inherited skeletal disorders.
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