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An animal model for pycnodysostosis: the role of cathepsin K in bone remodelling

1999; Elsevier BV; Volume: 5; Issue: 9 Linguagem: Inglês

10.1016/s1357-4310(99)01563-4

1878-4178

Francesca Lazner, Maxine Gowen, Ismail Kola,

Trace Elements in Health

The human bone disease pycnodysostosis is a rare skeletal dysplasia that results in a unique pattern of skeletal abnormalities including osteopetrosis, bone and joint deformities and craniofacial abnormalities. This disease was brought to public attention by the post-mortem diagnosis, made by Maroteux and Lamy 1 Maroteux P. Lamy M. The malady of Tolouse-Lautrec. J. Am. Med. Assoc. 1965; 191: 715-717 Crossref Scopus (73) Google Scholar , that French artist Henri Tolouse-Lautrec apparently suffered from pycnodysostosis. Pycnodysostosis is characterized by increased bone density, shortened stature, bone fragility, acro-osteolysis of the terminal phalanges, clavicular dysplasia and skull deformities 2 Elmore S.M. Virginia R. Pycnodysostosis: a review. J. Bone Jt Surg. ;1967; 49: 153-162 Google Scholar . This condition is also associated with a characteristic facial appearance resulting from calvarial bossing, loss of mandibular angle and micrognathia, which gives an ‘open mouth’ profile, a prominent nose and dental abnormalities such as the persistence of deciduous teeth resulting in a double row of teeth 3 Edelson J.G. et al. Pycnodysostosis; orthopedic aspects with a description of 14 new cases. Clin. Orthop. Relat. Res. 1992; 280: 263-276 PubMed Google Scholar . A number of individuals with pycnodysostosis also display splenomegaly 4 Nielsen E.L. Pycnodysostosis: six cases with new symptoms and an autopsy. Acta Paediatr. Scand. 1974; 63: 437-442 Crossref PubMed Scopus (19) Google Scholar , 5 Norman, C.H., Jr. and Dubowy, J. (1971) Pycnodysostosis with splenomegaly and anemia, New York State J. Med. 2419–2421 Google Scholar . Although the number of reported cases with splenomegaly is small, an exact estimation of the frequency of this characteristic is impossible due to the rarity of pycnodysostosis and the absence of significant haematological investigation in the majority of case reports. Splenomegaly is a common finding in osteopetrotic conditions and arises presumably as a compensatory mechanism for the reduction in bone marrow space.