Pyknodysostosis: visceral manifestations and simian crease.

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.

• Authors: Arvind Rup Singh, Anupam Kaur, Nand Kishore Anand, Jai Rup Singh
• Journal: Indian journal of pediatrics (Indian J Pediatr) Vol. 71 Issue 5 Pg. 453-5 (May 2004) ISSN: 0019-5456 [Print] India
• PMID: 15163881 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cathepsins
• CTSK protein, human
• Cathepsin K

Topics

• Abnormalities, Multiple (diagnosis)
• Cathepsin K
• Cathepsins (genetics)
• Child
• Craniofacial Dysostosis (complications, diagnosis)
• Female
• Follow-Up Studies
• Hand Deformities, Congenital (complications, diagnosis)
• Hepatomegaly (complications, diagnosis)
• Humans
• Risk Assessment
• Splenomegaly (complications, diagnosis)