Acta Ortopédica Mexicana

Cano-Rodríguez AI
Family picnodisostosis, report of a case after 10 years of follow-up
Acta Ortop Mex 2018; 32 (5)

Language: Español
References: 21
Page: 291-296
PDF: 292.66 Kb.

[Fulltext - PDF]

ABSTRACT

Introduction: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «bird’s face» and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. Objective: To analize clinical evolution of these afected patients. Material and methods: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. Results: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. Conclusions: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.


Key words: Pycnodysostosis, cathepsin K, Toulouse-Lautrec syndrome.


REFERENCES

  1. Sánchez-Lázaro JA, Linares-Álvarez L. Picnodisostosis: una rara enfermedad con fracturas frecuentes. Semergen. 2014; 40(3): e47-50.

  2. Maroteaux P, Lamy M. Pyknodysostosis. Presse Med. 1962; 70: 999-1002.

  3. Alcalá-Cerra G, Alcalá-Cerra L. Picnodistosis: el caso de Toulouse-Lautrec. Salud Uninorte. 2006; 22(1): 52-9.

  4. Vergara-Amador E. Henri de Toulouse-Lautrec y la picnodisostosis. Rev Col Or Tra. 2008; 22(4): 282-6.

  5. Mejía-Vallejo J, Calvo E, Restrepo JF, Iglesias-Gamarra A. Enfermedades osteocondensantes: una nueva visión clínico-radiológica soportada en la genética y la inmunoosteología. Rev Colomb Reumatol. 2009; 16(1): 46-60.

  6. Hermosilla-Sánchez F, Renovell-Ferrer P. Picnodisostosis y fragilidad ósea. Caso clínico. Rev Esp Cir Osteoartic. 2008; 236(46): 179-82.

  7. Alves N, Oliveira RJ, Deana NF, Sampaio JCA. Morphological features of pycnodysostosis with emphasis on clinical and radiographic maxillofacial findings. Int J Morphol. 2013; 31(3): 921-4.

  8. Gómez-Velázquez L. Picnodisostosis: Reporte de un caso. Rev Mex Ortop Ped. 2004; 6(1): 22-24.

  9. Ornetti P, Prati C, Fery-Blanco C, Streit G, Toussirot E, Wendling D. Pedicle stress fracture: an unusual complication of pycnodysostosis. Clin Rheumatol. 2008; 27(3): 385-7.

  10. Parrón R, Rivera I, Pajares S, Vicario C, Barriga A. Problemas ortopédicos en la picnodisostosis. Patología del Aparato Locomotor. 2006; 4(1): 70-3.

  11. Burguet-i-Arfelis A, Bachiller-Corral FJ, Morales-Piga A. Dentición anómala en niña de 8 años. Reumatol Clin. 2008; 4(5): 207-9.

  12. Thora S, et al. Pycnodysostosis. Indian Pediatrics. 1993; 30: 796-800.

  13. Anuradha S, Bharathi K. Pycnodysostosis affecting only the male siblings of a family. A rare case report. Int J Pharm Bio Sci. 2012; 3(4): 526-33.

  14. Tummala, P, Rao KB, Lakshmi BS. Pycnodysostosis: a case report of radiological analysis. JDMS. 2013; 12(3): 6-8.

  15. Gamboa-Mejía K, González-Trejo J, Fragoso-Ríos R. Picnodisostosis. Rev Odont Mex. 2005; 9(2): 92-6.

  16. González-Ávila M, Hernández-Mansilla R, Améstica-Lazcano G. Picnodisostosis y fractura femoral: reporte y seguimiento a 2 años. Bol Hosp Viña del Mar. 2014, 70(3): 96-9.

  17. Jáquez M, Espinal M, Vélez J. Síndrome de Down en una madre afectada de picnodisostosis. Reporte de ambos casos. Arch Dom Pediatr. 1987; 23(2): 61-5.

  18. Mills KL, Johnston AW. Pycnodysostosis. J Med Genet. 1988; 25(8): 550-3.

  19. Marrero-Riverón LO, Rondón-García V, Barbán-Lores D, Morales-Peralta E, Quintana-Rodríguez FJ. Estudio en una familia de una paciente con picnodisostosis. Rev Cubana Ortop Traumatol. 2004; 18(1): 34-40.

  20. Beguiristain JL, Arriola FJ, Leyes M. Lumbar spine anomalies in a pycnodysostosis case. Eur Spine J. 1995; 4(5): 320-1.

  21. Zenke MS, Hatori M, Tago S, Hosaka M, Kokubun S. Pycnodysostosis associated with spondylolysis. Arch Orthop Trauma Surg. 2002; 122(4): 248-50.