Challenges in Diagnosing Fibrodysplasia Ossificans Progressiva: A Case Report.
Journal
JBJS case connector
ISSN: 2160-3251
Titre abrégé: JBJS Case Connect
Pays: United States
ID NLM: 101596828
Informations de publication
Date de publication:
01 10 2023
01 10 2023
Historique:
medline:
1
11
2023
pubmed:
5
10
2023
entrez:
5
10
2023
Statut:
epublish
Résumé
A 5-year-old boy presented with multiple bony swellings in the dorsal spine region, restricted left shoulder movement, and a previous misdiagnosis of hereditary multiple exostoses (HMEs) resulting in unnecessary excision of the right scapular lesion. Clinical examination revealed hallux valgus, brachydactyly, and limited neck movement. Radiography and computed tomography confirmed a diagnosis of fibrodysplasia ossificans progressiva (FOP). This case report underscores the importance of accurate diagnosis and differentiation between FOP and HME. Hallux valgus, brachydactyly, and restricted neck movement suggested FOP. It is paramount for orthopaedic surgeons to exclude rare disorders before performing any interventions. Biopsies or resections of bone formation areas should be avoided for patients with FOP.
Identifiants
pubmed: 37797171
doi: 10.2106/JBJS.CC.23.00327
pii: 01709767-202312000-00005
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2023 by The Journal of Bone and Joint Surgery, Incorporated.
Déclaration de conflit d'intérêts
Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C216).
Références
Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby RE, Kitterman JA, Groppe J, Shore EM. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191-205.
Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008;121(5):e1295-300.
Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, Sando N, Zasloff M, Kaplan FS. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am. 1993;75(2):215-9.
Rogers JG, Geho WB. Fibrodysplasia ossificans progressiva. A survey of forty-two cases. J Bone Joint Surg Am. 1979;61(6A):909-14.
Smith R, Athanasou NA, Vipond SE. Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history. QJM. 1996;89(6):445-6.
Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics. 2005;116(5):e654-61.
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38(5):525-7.
de la Peña LS, Billings PC, Fiori JL, Ahn J, Kaplan FS, Shore EM. Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA. J Bone Miner Res. 2005;20(7):1168-76.
Fiori JL, Billings PC, de la Peña LS, Kaplan FS, Shore EM. Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res. 2006;21(6):902-9.
Kaplan FS, Fiori J, DE LA Peña LS, Ahn J, Billings PC, Shore EM. Dysregulation of the BMP-4 signaling pathway in fibrodysplasia ossificans progressiva. Ann N Y Acad Sci. 2006;1068:54-65.
Kaplan FS, Zasloff MA, Kitterman JA, Shore EM, Hong CC, Rocke DM. Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am. 2010;92(3):686-91.
Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br. 1982;64(1):76-83.
Lutwak L. Myositis ossificans progressiva. Mineral, metabolic and radioactive calcium studies of the effects of hormones. Am J Med. 1964;37;269-93.
Deirmengian GK, Hebela NM, O'Connell M, Glaser DL, Shore EM, Kaplan FS. Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva. J Bone Joint Surg Am. 2008;90(2):366-74.
Cremin B, Connor JM, Beighton P. The radiological spectrum of fibrodysplasia ossificans progressiva. Clin Radiol. 1982;33(5):499-508.
McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet. 1998;19(2):158-61.
Shapiro F, Simon S, Glimcher MJ. Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. J Bone Joint Surg Am. 1979;61(6A):815-24.
Peterson HA. Multiple hereditary osteochondromata. Clin Orthop Relat Res. 1989;(239):222-30.
Kaplan FS, Tabas JA, Gannon FH, Finkel G, Hahn GV, Zasloff MA. The histopathology of fibrodysplasia ossificans progressiva. An endochondral process. J Bone Joint Surg Am. 1993;75(2):220-30.
Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents: a clinicopathologic study of 108 examples in 103 patients. Pediatr Pathol. 1991;11(4):569-88.
Eastley N, McCulloch T, Esler C, Hennig I, Fairbairn J, Gronchi A, Ashford R. Extra-abdominal desmoid fibromatosis: a review of management, current guidance and unanswered questions. Eur J Surg Oncol. 2016;42(7):1071-83.
Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A, Bertario L, Pierotti MA, Delhanty JD, Radice P. Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. Br J Cancer. 1998;78(5):582-7.
Arrigoni P, Minen A. A case of soft tissue ossifications: a case report. JBJS Case Connect. 2019;9(2):e0287.
Wilson LC, Hall CM. Albright's hereditary osteodystrophy and pseudohypoparathyroidism. Semin Musculoskelet Radiol. 2002;6(4):273-83.
Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010;6(9):518-27.
Fisher TJ, Williams N, Morris L, Cundy PJ. Metachondromatosis: more than just multiple osteochondromas. J Child Orthop. 2013;7(6):455-64.