Pachydermoperiostosis: a case report

Abstract

Pachydermoperiostosis in three males of seven siblings from a village of mid-Anatolia is presented. Although X-linkage could not have been ruled out, the autosomal recessive inheritance was considered most likely. It differs from the autosomal dominant form by growth retardation, early ulcers, and acrolysis of the distal parts of the extremities with secondary contractures.