Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.
References
Smith R (1998) Fibrodysplasia (myosistis) ossificans progressiva: clinical lessons from a rare disease. Clin Orthop 346:7–14
Semonin O, Fontaine K, Daviaud C, Ayuso C, Lucotte G (2001) Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet 102:314–317
Shore EM, Feldman GJ, Xu M, Kaplan FS (2005) The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3:201–204
Mahboubi S, Glaser DL, Shore EM, Kaplan FS (2001) Fibrodysplasia ossificans progressiva. Pediatr Radiol 31:307–314
Puszczewicz M, Kolczewska A, Gorska IZ, Majewski D, Ogrodowicz A (2007) Fibrodysplasia ossificans progressiva: case report. Pol Arch Med Wewn 117:53–56
Palhares DB, Leme LM (2001) A perspective on the control of myositis ossificans progressiva. J Pediatr (Rio J) 77:431–434
Connor JM, Evans DAP (1982) Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg 64(B):76–83
Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J et al (2009) Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 121:1295–1300
Rogers JG, Geho WB (1979) Fibrodysplasia ossificans progressiva. A survey of forty-two cases. J Bone Joint Surg 61A:909–914
Schroeder HW, Zasloff MA (1980) The hand and foot malformations in fibrodysplasia ossificans progressiva. Johns Hopkins Med J 147:73–78
Cohen RB, Hahn GV, Tabas J, Peeper J, Levitz CL, Sando A et al (1993) The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. J Bone Joint Surg 75:215–219
Kaplan FS, Merrer ML, Glaser DL, Pignolo RJ, Goldsby R, Kitterman JA et al (2008) Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol 22:191–205
Pignolo RJ, Suda RK, Kaplan FS (2005) The fibrodysplasia ossificans progressiva lesion. Clin Rev Bone Miner Metab 3:195–200
Moriatis JM, Gannon FH, Shore EM, Bilker W, Zasloff MA, Kaplan FS (1997) Limb swelling in patients who have fibrodysplasia ossificans progressiva. Clin Orthop Rel Res 336:247–253
Kussmaul WG, Esmail AN, Sagir AN, Ross J, Gregory S, Kaplan FS (1998) Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. Clin Orthop 346:104–109
Schaffer AA, Kaplan FS, Tracy MR, O’Brien ML, Dormans JP, Shore EM et al (2005) Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome. Spine 30:1379–1385
Kaplan FS, Glaser DL, Shore EM, Deirmengian GK, Gupta R, Delai P et al (2005) The phenotype of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3:183–188
Miller ES, Esterly NB, Fairley JA (1996) Progressive osseous heteroplasia. Arch Dermatol 132:787–791
Sanmartin O, Alegre V, Martinez-Aparicio A, Botella-Estrada R, Aliaga A (1993) Congenital platelike osteoma cutis: case report and review of the literature. Pediatr Dermatol 10:182–186
Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G et al (1990) Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. N Engl J Med 322:1412–1419
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ et al (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38:525–527
Lee DY, Cho TJ, Lee HR, Park MS, Yoo WJ, Chung CY et al (2009) ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva. J Korean Med Sci 24:433–437
Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N et al (2008) A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A 146:459–463
Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet 17:311–318
Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L et al (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 30:379–390
Buyse G, Silberstein J, Goemans N, Casaer P (1995) Fibrodysplasia Ossificans Progressiva: still turning into wood after 300 years? Eur J Pediatr 154:694–699
Glaser DL, Kaplan FS (2005) Treatment considerations for the management of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3:243–250
Kaplan FS, Shore EM, Glaser DL, Emerson S (2003) The medical management of fibrodysplasia ossificans progressiva: current treatment considerations. Clin Proc Intl Consort FOP 1:1–81
Kaplan FS, Shore EM, Glaser DL, Emerson S (2005) The medical management of fibrodysplasia ossificans progressiva: current treatment considerations. Clin Proc Intl Clin Consort FOP 1:1–71
Blaszczyk M, Majewski S, Wcislo LB, Jablonska S (2003) Fibrodysplasia ossificans progressiva. Eur J Dermatol 13:234–237
Nucci A, Queiroz LDS, Santos ADO, Camargo E, Moura RM (2000) Fibrodysplasia ossificans progressiva. Arq Neuropsiquiatr 58:342–347
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Ulusoy, H. Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies. Rheumatol Int 32, 1379–1382 (2012). https://doi.org/10.1007/s00296-010-1426-1
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DOI: https://doi.org/10.1007/s00296-010-1426-1