Abstract
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K — a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having hepatosplenomegaly and simian crease.
This is a preview of subscription content, log in via an institution to check access.
References
Maroteaux P, Lamy M. La pycnodystose.Presse Med 1962; 70: 999–1002.
Andren L, Dymling JF, Hogeman KE, Wendeberg ES. Osteopetrosis acro-osteolytica: a syndrome of osteoporosis, acro-osteolysis and open sutures of skull.Acta Chir Scand 1962; 124: 496–507.
Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.Science 1996; 273: 1236–1238.
Gelb BD, Spencer E, Obad S, Edelson JG, Faure S, Weissenbach, Desnick RJ. Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.Hum Genet 1996; 98: 141–144.
Edelson JG, Obad S, Geiger R, On A, Artul HJ. Pycnodysostosis: orthopedic aspects with description of 14 new cases.Clin Orthop 1992; 280 : 263–276.
Sedano HP, Gorlin RJ, Anderson VE. Pycnodysostosis: clinical and genetic considerations.Am J Dis Child 1968; 116 : 70–77.
Ferguson JW, Brown RH, Cheong LY. Pycnodysostosis associated with delayed and ectopic eruption of permanent teeth,Int J Paediatr Dent 1991; 1: 35–41.
Kozlowski K, Yu JS. Pycnodysostosis: a variant form with visceral manifestations.Arch Dis Child 1972; 47: 804–807.
Santhanakrishnan BR, Paneerselvam S, Ramesh S, Panchatcharam M. Pycnodysostosis with visceral manifestations and rickets.Clin Pediat Phila 1986; 25: 416–418.
Gambhir A, Murali MV, Iyer PU. Pycnodysostosis.Indian Pediatr 1990; 27: 969–971.
deAgustin JC, Jover P, Leon M, Oliver A, Izal E, Utrilla JG. Pyknodysostosis: extreme cause of sleep apnea.Cir Pediatr 1992; 5: 105–108.
Soliman AT, Rajab A, Al Salmi I, Darwish A, Asfour M. Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment.Arch Dis Child 1996; 75: 242–244.
Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM. Pycnodysostosis: clinical, radiological and endocrine evaluation and linear growth hormone therapy.Metabolism 2001; 50 : 905–911.
Nishi Y, Atley L, Eyre DE, Edelson JG, Superti-Furga A, Yasuda Tet al. Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.J Bone Miner Res 1999; 14: 1902–1908.
Rantakokko J, Aro HT, Savontaus M, Vuorio E. Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development.FEBS Lett 1996; 393 : 307–313.
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NSet al. Human Gene Mutation Database (HGMD): 2003 update.Hum Mutat 2003; 21: 577–581.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Singh, A.R., Kaur, A., Anand, N.K. et al. Pyknodysostosis : Visceral manifestations and simian crease. Indian J Pediatr 71, 453–455 (2004). https://doi.org/10.1007/BF02725641
Issue Date:
DOI: https://doi.org/10.1007/BF02725641