title: 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.affiliation: Department of Dermatology, La Paz University Hospital, Madrid, Spain.
authors.forename: Jéssica
authors.initials: J
authors.lastname: González-Ramos
authors.affiliation: Department of Dermatology, La Paz University Hospital, Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Sendagorta-Cudós
authors.affiliation: Department of Dermatology, La Paz University Hospital, Madrid, Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: González-López
authors.affiliation: Department of Dermatology, La Paz University Hospital, Madrid, Spain.
authors.forename: Ander
authors.initials: A
authors.lastname: Mayor-Ibarguren
authors.affiliation: Department of Dermatology, La Paz University Hospital, Madrid, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Feltes-Ochoa
authors.forename: Pedro
authors.initials: P
authors.lastname: Herranz-Pinto
mesh_terms: D000328:Adult; D019274:Botulinum Toxins, Type A / Q000008:administration & dosage*; D004252:DNA Mutational Analysis; D005260:Female; D005533:Foot Dermatoses / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007271:Injections, Intradermal; D053553:Keratin-6 / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D009264:Nails, Malformed / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D053549:Pachyonychia Congenita / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D012074:Remission Induction; D012867:Skin / Q000187:drug effects* / Q000473:pathology; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: C507569:KRT6A protein, human; D053553:Keratin-6; D019274:Botulinum Toxins, Type A
keywords: botulinum toxin; hyperhidrosis; pachyonychia congenita