Coexistence of Touraine-Solente-Gole syndrome and type 1 neurofibromatosis: A case report

Abstract

Pachydermoperiostosis is a rare syndrome that affects the skin and skeletal system. Mutations in the gene encoding hydroxyprostaglandin dehydrogenase (HPGD) are thought to play a role in disease etiopathogenesis. The disease is typically seen in males and is characterized by skin thickening (pachydermia), clubbing, and subperiosteal new bone formation. A 57-year-old male patient was admitted to our clinic with growth complaints of growth his hands, feet, and face. He had a prominence of forehead lines and fist-sized round bulges on his torso and face. The patient’s history also indicated that he was clinically followed up for neurofibromatosis 1 (NF1). No mutations in the HPGD and SLCO2A1 genes were identified. This is the first case in the literature that reviews pachydermoperiostosis and NF together. The coexistence of skin findings of two different diseases in the same patient indicates that both diseases may be related to different genetic pathways.

Keywords

• neurofibromatosis
• pachydermoperiostosis
• cutis verticis gyrata