Sclerosteosis: report of a case in a black African man
Article first published online: 28 JUN 2008
Volume 53, Issue 6, pages 497–501, June 1998
How to Cite
Tacconi, P., Ferrigno, P., Cocco, L., Carinas, A., Tamburini, G., Bergonzi, P. and Giagheddu, M. (1998), Sclerosteosis: report of a case in a black African man. Clinical Genetics, 53: 497–501. doi: 10.1111/j.1399-0004.1998.tb02603.x
- Issue published online: 28 JUN 2008
- Article first published online: 28 JUN 2008
- Received 6 August 1997, revised and accepted for publication 30 December 1997
- bone dysplasias;
- cranial nerves neuropathy;
- craniotubular hyperostoses;
Sclerosteosis is a rare genetic disorder of bone modelling, similar to, but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA.
Here we report a case of sclerosteosis in a black man born in Senegal. He presented with the full features of the disease: tall stature; syndactyly; nail dysplasia; massive sclerosis of the long tubular bones, the ribs, the pelvis and the skull; multiple cranial nerve involvement: optic atrophy, facial palsy and trigeminal neuralgia. Radiologic examination, visual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seems to be the first case of the disease in a black African individual, with no known relationship with Dutch ancestry.