DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20164233

Pycnodysostosis: a distinctive brittle bone disease?

Muralidhara K., Gouramma Padanad, T. S. Srinath Kumar

Abstract


Pycnodysostosis is a rare disorder that is inherited as an autosomal recessive trait usually diagnosed at an early age with an estimated incidence of 1.7 per 1 million births. It is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who suffered from the disease. Pycnodysostosis is a lysosomal storage disorder of the bone caused by a mutation in the gene that codes the enzyme Cathepsin K causing osteosclerosis. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very common.


Keywords


Cathepsin K, Lysosomal, Osteosclerosis, Pycnodysostosis

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References


O’Connell AC, Brennan MT, Francoman CA. Pycnodysostoosriso: facial manifestations in two pediatric patients. Amer Acad Pedia Den. 1998;20(3):204-7.

Kozlowski K. Pycnodysostosis a variant form with visceral manifestations. Archives of Disease in Childhood. 1972;47:804.

Puri R, Saxena A, Mittal A, Arshad Z, Dwivedi Y, Chand T, et al. Pycnodysostosis: An Anaesthetic Approach to This Rare Genetic Disorder. Hindawi Publishing Corporation Case Reports in Anesthesiology. 2013:1-3.

Yamad Na, Inomata H, Morita K. 2 cases of pycnodysostos are with special emphasis on maxillo-facial findings. Dentomaxillofacial Radiol. 1973;2:12-7.

Cook PA. Pyknodysostosis- a case report. J Paed Dent. 1987;3:81-3.

Ferguson JW, Brown RH, Cheong LY. Pycnodysotosis associated with delayed and ectopic eruption of permanent teeth. Int J Paediatr Dent. 1991;1:35-8.

Gelb BD, Edelson JG, Desnick RJ. Linkage ofpycnodysostosis to chromosome lq21 by homozygosity mapping. Nat Genet. 1995;10:235-7.

Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996;273:1236-38.

Johnson MR, Polymeropoulos MH, Vos HL, Ortiz de Luna RI, Francomano CA. A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis. GenomRees. 1996;6:1050-5.

Green AER, owe NL. Pycnodysostosis--a rare disorder complicating extraction. BrJ Oral Surg. 1976;13:254-63.

Schmitz JP, Gassmann CJ, Bauer AM, Smith BR. Mandibular reconstruction in a patient with pyknodysostosiJs. Oral Maxillofac Surg. 1996;54:513-7.

Demirjian A, Goldstein H, Tanner JM. A new system of dental age assessment. Hum Biol. 1973;45:211-27.

Iwu CO. Bilateral osteomyelitis of the mandible in pycnodysostosis. A case report. Int J Oral MaxillofacS urg. 1991;20:71-2.

Nielsen EL. Pycnodysostosis. Acta Paediatr Scand. 1974;63:437-42.