pycnodysostosis
Sign in to savePycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD.
Key facts
- Medical condition (new).name
- Pycnodysostosis
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- File:Pycnodysostosis 1.jpg
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- Woman with pycnodysostosis
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Research
370 papers- Pycnodysostosis.1993
- Pycnodysostosis.Indian pediatrics · 1993
- Pycnodysostosis in an Adult: A Case Report and Review of the Literature.Ear, nose, & throat journal · 2019
- Pycnodysostosis: the disease of Henri de Toulouse-Lautrec.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2018
- PYCNODYSOSTOSIS.Archives of disease in childhood · 1963
via PubMed
Article
8 sectionsContents
- History
- Signs and symptoms
- Genetics
- Diagnosis
- Treatment and management
- Epidemiology
- Differences from osteopetrosis
- References
Pycnodysostosis () is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD.
== History == The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse-Lautrec (1864–1901), whose parents were first cousins, is believed to have had the disease.