PYCNODYSOSTOSIS; A RARE DISEASE CASE REPORT
AbstractPycnodysostosis is a rare disease with very few reported cased all over the world. It was first described in 1963 by Maroteaux and Lamy. It is also known as Toulouse-Lautrec syndrome, after a French artist, Henri de Toulouse Lautrec. The affected gene, CTSK, was first isolated in 1996. It is an autosomal recessive osteochondrodysplasia, characterized by disrupted function of osteoclasts. Incidence of this disease is 1.7 per 1 million births with a male to female ratio of 1. 30% cases arise from consanguineous marriages.
Elmore SM: Pycnodysostosis: a review. J Bone Joint Surg [Am]. 1967, 49: 153-161.
Motyckova G, Fisher DE: Pycnodysostosis: Role and Regulation of Cathepsin K in Osteoclast Function and Human Disease. Curr Mol Med. 2002, 2: 407-421. 10.2174/1566524023362401.
Chavassieux P, Seeman E, Delmas PD: Insights into material and structural basis of bone fragility from diseases associated with fractures: how determinants of the biomechanical properties of bone are compromised by disease. Endocr Rev. 2007, 28: 151-164. 10.1210/er.2006-0029.
Dormans J, Flynn J: Rockwood and Wilkin's Fractures in Children. Edited by: Beaty JHKasser JR. 2005, Lippincott Williams & Wilkins, 195-6
Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K: Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab. 2004, 89: 1538-1547. 10.1210/jc.2003-031055.
Wolpowitz A, Matisonn A: A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis. S Afr Med J. 1974, 48: 1011-1018.
Maroteaux P, Lamy M: Pyknodysostosis. Presse Med. 1962, 70: 999-1002.
Fujita Y, Nakata K, Yasui N, Matsui Y, Kataoka E, Hiroshima K, Shiba RI, Ochi T: Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. J Clin Endocrinol Metab. 2000, 85: 425-431. 10.1210/jc.85.1.425.
Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M: Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis Mutation in brief #961. Online. Hum Mutat. 2007, 28: 524-10.1002/humu.9490.
Mujawar, Q., Naganoor, R., Patil, H. et al. Pycnodysostosis with unusual findings: a case report. Cases Journal 2, 6544 (2009). https://doi.org/10.4076/1757-1626-2-6544
Sedano HD, Gorlin RJ, Anderson VE. Pycnodysostosis: Clinical and Genetic Considerations. Am J Dis Child.1968;116(1):70–77. doi:10.1001/archpedi.1968.02100020072010