Pycnodysostosis with unusual findings: a case report

Abstract

Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia, usually diagnosed at an early age with incidence estimated to be 1.7 per 1 million births. Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. The syndrome has been frequently reported in history. This article reports unusual ophthalmologic findings, conductive hearing loss due to suspected otosclerosis and sandal gap deformity in a Pycnodysostosis patient.