Pachydermoperiostosis: The value of molecular diagnosis
Publication date: Available online 12 September 2017
Source:Annales de Dermatologie et de Vénéréologie
Author(s): V. Seta, Y. Capri, M. Battistella, M. Bagot, E. Bourrat
BackgroundPachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified.Patients and methodsA 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The...