Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.

Abstract

Pachyonychia congenita (PC) is a rare genodermatosis caused by a mutation in keratin genes, which can lead to hypertrophic nail dystrophy and focal palmoplantar keratoderma (predominantly plantar), amongst other manifestations. Painful blisters and callosities, sometimes exacerbated by hyperhidrosis, are major issues that can have a significant impact on patient quality of life. Many alternative treatments for this condition have been applied with variable and partial clinical response, but a definitive cure for this disease has yet to be discovered. After obtaining informed consent, two patients with genetically confirmed PC type 1 were treated with plantar injections of botulinum toxin type A. Both patients showed a marked improvement in pain and blistering with an average response time of one week, a six-month mean duration of effectiveness, and a lack of any side effects or tachyphylaxis.

• Authors: Jéssica González-Ramos, Elena Sendagorta-Cudós, Guillermo González-López, Ander Mayor-Ibarguren, Rosa Feltes-Ochoa, Pedro Herranz-Pinto
• Journal: Dermatologic therapy (Dermatol Ther) 2016 Jan-Feb Vol. 29 Issue 1 Pg. 32-6 ISSN: 1529-8019 [Electronic] United States
• PMID: 26445325 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• KRT6A protein, human
• Keratin-6
• Botulinum Toxins, Type A

Topics

• Adult
• Botulinum Toxins, Type A (administration & dosage)
• DNA Mutational Analysis
• Female
• Foot Dermatoses (drug therapy, genetics, pathology)
• Genetic Predisposition to Disease
• Humans
• Injections, Intradermal
• Keratin-6 (genetics)
• Keratoderma, Palmoplantar (drug therapy, genetics, pathology)
• Male
• Mutation, Missense
• Nails, Malformed (drug therapy, genetics, pathology)
• Pachyonychia Congenita (drug therapy, genetics, pathology)
• Phenotype
• Remission Induction
• Skin (drug effects, pathology)
• Time Factors
• Treatment Outcome