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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis
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Cathepsin K
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Cathepsins / genetics
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Child
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Craniofacial Dysostosis / complications
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Craniofacial Dysostosis / diagnosis*
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Female
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Follow-Up Studies
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Hand Deformities, Congenital / complications
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Hand Deformities, Congenital / diagnosis*
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Hepatomegaly / complications
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Hepatomegaly / diagnosis*
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Humans
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Risk Assessment
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Splenomegaly / complications
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Splenomegaly / diagnosis*
Substances
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Cathepsins
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CTSK protein, human
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Cathepsin K