Treatment of pachydermoperiostosis pachydermia with botulinum toxin type A.

BACKGROUND: Pachydermoperiostosis (PDP) is a rare hereditary disorder characterized by digital clubbing, periostosis, and pachydermia. Pachydermia results in leonine facies, a major cause of cosmetic and functional morbidity in these patients. Its treatment is usually surgical. So far, no medical treatment has been suggested to alleviate this morbidity.

OBJECTIVE: We sought to assess the role of botulinum toxin type A (BTX-A) in improving the cosmetic appearance of pachydermia in patients with PDP.

METHODS: Three patients with PDP were treated with BTX-A for their leonine facies. A total of 70 to 80 U were used to treat the upper third of the face. Photographs were taken at baseline and at 2 and 6 weeks after the injections. The patients were followed up periodically for at least 6 months. Wrinkle severity was assessed at relaxation using the 4-point facial wrinkle scale at baseline, week 6, and month 6. In addition, a subjective assessment of the improvement of the extent and depth of the facial rhytides/furrows over the upper third of the face was performed by the same investigator at week 6 and month 6.

RESULTS: Using the subjective assessment of the improvement of wrinkles, all 3 patients exhibited a fair to excellent response at week 6 that started manifesting 1 week after the BTX-A treatment. All patients demonstrated a residual effect 6 months after the treatment. One patient exhibited a mild exacerbation of his ptosis.

LIMITATIONS: Major limitations were the small number of patients and the administration of BTX-A injections and assessment of their response by a single unblinded physician.

CONCLUSION: BTX-A is a simple procedure that may be of value in temporarily improving the cosmetic appearance of pachydermia in patients with PDP.