Lima RJC, Pedroso CJ, Padín MD, Acosta BA

Language: Spanish
References: 10
Page: 245-252
PDF size: 244.36 Kb.

ABSTRACT

The stone man syndrome or myositis ossificans progressiva is a congenital connective tissue disease with a frequency of 1 in 2 million live births, it is a rare disease. It is reported a 40-year-old-male patient who attended the external consultation of “Aleida Fernández Chardiet” General Teaching Hospital of Güines municipality, Mayabeque province, for presenting with muscle pain, stiffness in the thighs, difficulty to wander and maintaining the standing position. It was decided the admittance into the service and the corresponding studies in relation to the patient. In complementary studies it was observed on radiographs, ossification in the gluteus medius and vastus externus muscles of both hips with no antecedents of trauma, and anemia in hemochemical. Findings are discussed, literature is reviewed and the characteristics of this patient with those found in other cases are compared, arriving at the diagnosis of fibrodysplasia ossificans progressiva due to a de novo mutation, since no other family member has been affected.

REFERENCES

1. Rodríguez Lucenilla MI, Sánchez Forte M, Giménez Sánchez F. Salvador Sánchez J, Bonillo Perales A. Fibrodisplasia osificante progresiva, la enfermedad del hombre de piedra. An Pediatr [Internet]. 2012 [citado 10 Abri 2012];77(4). Disponible en: http://zl.elsevier.es/es/revista/anales-pediatria-37/fibrodisplasiaosificante- progresiva-enfermedad-hombre-piedra-90154780-cartas-aleditor- 2012

2. Triqui M, Ayadi K, Zribi M, Trikiz, Keskes H. Fibrodisplasia ossificans progressiva: diagnosis and surgical management. Acta Orthop Belg [Internet]. 2011 [citado 10 Abr 2012];77. Disponible en: http://www.actaorthopaedica.be/acta/download/2011-2/01- trigui%20et%20al.pdf

3. Kaplan F, Glaser D, Pignolo RJ, Shore E. 14º informe anual del proyecto colaborativo sobre ibrodisplasia osiicante progresiva [Internet]. Pensylvania: POP; 2005 [citado 10 Abr 2012]. Disponible en: https://www.ifopa.org/component/docman/doc_download/13-fourteenthannual- report-spanish.html

4. Lau J, Hartin CW. Ozgediz DE. Myositis ossificans requires multiple diagnostic modalities Journal of Pediatric Surgery [Internet]. 2012 [citado 10 Abr 2012];47(9). Disponible en: http://www.jpedsurg.org/article/S0022-3468(12)00378-8/fulltext

5. Carnesale PG. Enfermedades no neoplásicas que simulan tumores óseos. En: Crenshaw MD ed. Campbell. Cirugía Ortopédica. 8ª ed. Buenos Aires: Panamericana; 1993. p. 269-91.

6. Pereda Cardoso O, Echevarria Castillo R, Blanco Placencia H, González Reinaldo O, Padrón Valdés F. Miositis osificante postraumática. Rev Cubana de Ortopedia y Traumatología [Internet]. 2007 [citado 10 Abr 2012];21(1). Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864- 215X2007000100006

7. Pignolo RJ, Shore EM, Kaplan Fs. Fibrodysplasia ossificans progressive clinical and genetic aspects [Internet]. Pennsylvania: University of Pennsylvania; 2011 [citado 01 Dic 2011]. Disponible en: http://link.springer.com/content/pdf/10.1186%2F1750-1172-6-80.pdf

8. Mahboubi S, Glaser DL, Shore EM, Kaplan FS. Fibrodysplasia ossificans progressiva. Pediatr Radiol 2001;31:307-14.

9. Morales Piga A, Bachiller Corral J, Trujillo Tiebas MJ, Villa verde Hueso A, Gamir Gamir ML, Alonso Ferreira V, et.al. Fibrodysplasi ossificans progressiva in Spain: epidemiological clínica, and genetic aspects [Internet]. 2012 Oct [citado 01 Dic 2011];51(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22796417

10. Benetos IS, Mavrogenis AF, Themistocleous GS, Karellopoulos AD,