Fibrodisplasia ossificante progressiva

Tonholo-Silva, Edward R.; Adachi, Elza Aquimi; Tafner, Maria Salete; Yoshinaga, Lucia

doi:10.1590/S0004-282X1994000100020

Resumos

Fibrodisplasia (miosite) ossificante progressiva (FOP) é doença rara, de herança autossômica dominante, na qual ocorre ossificação ectópica progressiva e malformação esquelética, principalmente no tecido conectivo dos músculos. O diagnóstico é baseado nos achados clínicos e demonstração radiologica das malformações esqueléticas. Relatamos o caso de uma menina de 5 anos de idade com FOP.

fibrodisplasia ossificante progressiva; miosite; ossificação

Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the conective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.

fibrodysplasia ossificans progressiva; myositis; ossification

Fibrodysplasia ossificans progressiva

Fibrodisplasia ossificante progressiva

Edward R. Tonholo-Silva^I; Elza Aquimi Adachi^II; Maria Salete Tafner^III; Lucia Yoshinaga^IV

^IDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Assistant Professor of Neurology

^IIDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Assistant Professor of Pediatrics

^IIIDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Resident of Pediatrics

^IVDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Student of Medicine

SUMMARY

Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the conective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.

Key-words: fibrodysplasia ossificans progressiva, myositis, ossification.

RESUMO

Fibrodisplasia (miosite) ossificante progressiva (FOP) é doença rara, de herança autossômica dominante, na qual ocorre ossificação ectópica progressiva e malformação esquelética, principalmente no tecido conectivo dos músculos. O diagnóstico é baseado nos achados clínicos e demonstração radiologica das malformações esqueléticas. Relatamos o caso de uma menina de 5 anos de idade com FOP.

Palavras-chave: fibrodisplasia ossificante progressiva, miosite, ossificação.

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Aceite: 23-junho-1993.

Dr. Edward Roberto Tonholo Silva - Rua Julio Mesquita 295 -17515-320 Marília SP - Brasil.

1. Bruni L, Giammaria P, Tozzi MC, Camparcola D, Scopinaro F, Imperato C. Fibrodysplasia ossificans progressiva: an 11-year-old treated with a diphosphonate. Acta Paediatr Scand 1990, 79: 994-998.
2. Caron KH, DiPietro MA Aisen AM, Heidelberger KP, Phillips WA, Martel W. MR imaging of early fibrodysplasia ossificans progressiva. J Comput Assit Tomogr 1990, 14: 318-321.
3. Connor JM, Evans DAP. Fibrodysplasia ossificans progressiva: the clinical features and natural history of 34 patients. J Bone Joint Surg 1982, 64-B: 76-83.
4. Chomette G, Goudot O, Auriol M, Vidal JM, Tranbaloc P, Wechsler B, Vaillant JM, Guilbert F. Myosite ossificante circonscrite faciale: étude anatomo-clinique et tomodensitométrique. Rev Stomatol Chir Maxillofac 1989, 90:1-6.
5. Eaton WL, Conkling WS, Daeschner CW. Early myositis ossificans progressiva occuring in homozygotic twins: a clinical and pathological study. J Pediatr 1957, 50: 591-598.
6. Guze BH, Schelbert H. The nuclear medicine bone image and myositis ossificans progressiva. Clin Nucl Med 1989, 14: 161-162.
7. Labbe A, Carla H, Mazingue F, Campagne D. Myosite ossificante circonscrite non traumatique de la région fémorale. Pediatrie 1990, 45: 781-784.
8. McKusick VA. Heritable disorders of connective tissue. Ed 4. St. Louis: Mosby 1972, p 687-702.
9. Rogers JG, Geho WB. Fibrodysplasia ossificans progressiva: a survey of forty-two cases. J Bone Joint Surg 1979, 61-A: 909-914.
10. Sijelmassi R, Mallet JF, Ravasse P, Michel C, Delmas P. Myosite ossificante circonscrite rachidienne d'origine infectieuse. Pediatrie 1990, 45: 29-33.
11. Smith R. Myositis ossificans progressiva: a review of current problem. Semin Arthritis Rheum 1975,4:369-380.
12. Smith R, Russel RGG, Woods CG. Myositis ossificans progressiva: clinical features of eight patients and their response to treatment. J Bone Joint Surg 1976, 56-B: 48-57.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Mar 1994

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Bruni L, Giammaria P, Tozzi MC, Camparcola D, Scopinaro F, Imperato C. Fibrodysplasia ossificans progressiva: an 11-year-old treated with a diphosphonate. Acta Paediatr Scand 1990, 79: 994-998.

[2] 2. Caron KH, DiPietro MA Aisen AM, Heidelberger KP, Phillips WA, Martel W. MR imaging of early fibrodysplasia ossificans progressiva. J Comput Assit Tomogr 1990, 14: 318-321.

[3] 3. Connor JM, Evans DAP. Fibrodysplasia ossificans progressiva: the clinical features and natural history of 34 patients. J Bone Joint Surg 1982, 64-B: 76-83.

[4] 4. Chomette G, Goudot O, Auriol M, Vidal JM, Tranbaloc P, Wechsler B, Vaillant JM, Guilbert F. Myosite ossificante circonscrite faciale: étude anatomo-clinique et tomodensitométrique. Rev Stomatol Chir Maxillofac 1989, 90:1-6.

[5] 5. Eaton WL, Conkling WS, Daeschner CW. Early myositis ossificans progressiva occuring in homozygotic twins: a clinical and pathological study. J Pediatr 1957, 50: 591-598.

[6] 6. Guze BH, Schelbert H. The nuclear medicine bone image and myositis ossificans progressiva. Clin Nucl Med 1989, 14: 161-162.

[7] 7. Labbe A, Carla H, Mazingue F, Campagne D. Myosite ossificante circonscrite non traumatique de la région fémorale. Pediatrie 1990, 45: 781-784.

[8] 8. McKusick VA. Heritable disorders of connective tissue. Ed 4. St. Louis: Mosby 1972, p 687-702.

[9] 9. Rogers JG, Geho WB. Fibrodysplasia ossificans progressiva: a survey of forty-two cases. J Bone Joint Surg 1979, 61-A: 909-914.

[10] 10. Sijelmassi R, Mallet JF, Ravasse P, Michel C, Delmas P. Myosite ossificante circonscrite rachidienne d'origine infectieuse. Pediatrie 1990, 45: 29-33.

[11] 11. Smith R. Myositis ossificans progressiva: a review of current problem. Semin Arthritis Rheum 1975,4:369-380.

[12] 12. Smith R, Russel RGG, Woods CG. Myositis ossificans progressiva: clinical features of eight patients and their response to treatment. J Bone Joint Surg 1976, 56-B: 48-57.