Article
Pachydermoperiostosis: The value of molecular diagnosis.
Annales de dermatologie et de venereologie - 1 Dec 2017
Seta V, Capri Y, Battistella M, Bagot M, Bourrat E
Abstract excerpt
BACKGROUND: Pachydermoperiostosis 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 METHODS: A 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...
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