Abstract

Pachyonychia congenita (PC) is a rare genetic skin disease which is estimated to affect between 5,000 and 10,000 people worldwide. PC can cause severe pain, especially affecting weight-bearing areas, which accompanies thickening of the skin on the feet (keratoderma). Although there are options for treating the various symptoms of PC, most of them are not especially effective at improving the keratoderma and the pain. The successful use of botulinum toxin (Btx) injections for treating keratoderma in PC patients has been documented in three reports over the past decade. The injection technique, doses of Btx, and methods of anesthesia varied between the reports and the patients. In recent years, the authors, who are based in Israel, have adopted the same approach and refined the injection technique and anesthesia procedure, and have adjusted the Btx doses to improve the treatment. The purpose of this study was to describe the authors four-year experience during which they administered a total of 30 Btx injections to five PC patients following the protocol they have designed. The conclusions of the study were that Btx treatment of PC-associated keratoderma following an optimized protocol leads to a major change in patients’ quality of life. The best improvement scores concerned patients’ morning feet burning and ability of long-distance walking (> 500 m). The scores were significantly better if the intervals between Btx injections were less than 100 days. This is a summary of the study: A treatment protocol for botulinum toxin injections in the treatment of pachyonychia congenita-associated keratoderma

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