A Case of Pachydermoperiostosis

ABSTRACT

PURPOSE: Pachydermoperiostosis is a rare hereditary disease characterized by finger clubbing, periosteal reaction, and pachydermia. The underlying pathogenic mechanism of this disease remains unclear. This disease is known to be associated with a variety of diseases such as cranial suture defect, bone marrow failure, hypertrophic gastropathy, Crohn's disease, and female escuchen. METHODS: A 50-year-old male had digital clubbing of both hands, coarse hypertrophic skin changes of face, progressive thickening and furrowing on the scalp(cutis verticis gyrata), persistent pain in the limbs and joints. Other cutaneous features include moderate blepharoptosis, pole-like lower legs and feet. RESULTS: We performed surgical excision for hypertrophic skin change of scalp because of frequent eczematous skin change, severe itching sensation and cosmetic problem. Diagnosis is confirmed by bony proliferative periosteal reaction, pathologic findings, and characteristic clinical findings. CONCLUSION: Pachydermoperiostosis is manifested by finger clubbing, and hypertrophic skin changes causing coarse facial features with thickening and periosteal bone formation. We experienced a case of pachydermoperiostosis. Brief review of related literature is given.