15 March 2005
Use of Articles in the Pachyonychia Congenita Bibliography
The articles in the PC Bibliography may be restricted by copyright laws. These have been made available to you by PC Project for the exclusive use in teaching, scholar- ship or research regarding Pachyonychia Congenita.
To the best of our understanding, in supplying this material to you we have followed the guidelines of Sec 107 regarding fair use of copyright materials. That section reads as follows:
Sec. 107. - Limitations on exclusive rights: Fair use Notwithstanding the provisions of sections 106 and 106A, the fair use of a copyrighted work, including such use by reproduction in copies or phonorecords or by any other means specified by that section, for purposes such as criticism, comment, news reporting, teaching (including multiple copies for classroom use), scholarship, or research, is not an infringement of copyright. In determining whether the use made of a work in any particular case is a fair use the factors to be considered shall include - (1) the purpose and character of the use, including whether such use is of a commercial nature or is for nonprofit educational purposes; (2) the nature of the copyrighted work; (3) the amount and substantiality of the portion used in relation to the copyrighted work as a whole; and (4) the effect of the use upon the potential market for or value of the copyrighted work. The fact that a work is unpublished shall not itself bar a finding of fair use if such finding is made upon consideration of all the above factors.
We hope that making available the relevant information on Pachyonychia Congenita will be a means of furthering research to find effective therapies and a cure for PC.
2386 East Heritage Way, Suite B, Salt Lake City, Utah 84109 USA Phone +1-877-628-7300 • Email—[email protected] www.pachyonychia.org BJD THERAPEUTICS British Journal of Dermatology Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita C. Swartling,* M. Karlqvist,* K. Hymnelius,* J. Weis§ and A. Vahlquist* Departments of *Dermatology and §Radiology, and Centre for Research and Development, County Council of Ga¨vleborg, Uppsala University, University Hospital, SE-751 85 Uppsala, Sweden Sophiahemmet AB, Hidrosis Clinic, Box 5605, SE-114 86 Stockholm, Sweden
Summary
Correspondence Background Painful foot blistering is a common problem in patients with epider- Carl Swartling. molysis bullosa simplex (EBS) and pachyonychia congenita (PC). Hyperhidrosis, E-mail: [email protected] a condition which can be effectively blocked by plantar injections of botulinum toxin (Btx), often exacerbates the blistering. Accepted for publication 22 June 2010 Objectives A retrospective evaluation of the effects of Btx injections in 14 patients with EBS and PC with foot blisters and painful callosities. Key words Methods After informed consent, patients with EBS (n = 6) and PC (n = 8), aged blisters, botulinum toxin, callus, epidermolytic 7–66 years, who had received Btx therapy at our centre since 2003, were disorders, hyperhidrosis, keratin mutation included. The treatment consisted of multiple plantar injections of Btx A or Btx B Conflicts of interest after prior regional or general anaesthesia. Patients were interviewed about the None declared. treatment effect and were asked to score the improvement from 0 to 5, where 5 is ‘excellent’. One patient with PC with painful callosities was studied by DOI 10.1111/j.1365-2133.2010.09927.x magnetic resonance (MR) spectroscopic microimaging before and after Btx injec- tions to disclose any underlying blisters. Results In total, 76 treatments were evaluated (one to 19 sessions per patient). Thirteen patients (93%) reported reduced plantar blistering and pain; the improvement score was ‡ 4 in four of six patients with EBS and six of eight patients with PC. The mean effect duration was 3 months. No adverse events, apart from mild anticholinergic side-effects in two patients, were noted. MR spectroscopic microimaging showed disappearance of intraepidermal blistering after Btx therapy. Conclusions Plantar injection of Btx is an efficient, long-lasting and safe treatment of painful blistering and callosities in EBS and PC that can be given repeatedly without loss of efficacy.
Epidermolysis bullosa simplex (EBS) and pachyonychia con- [Dowling–Meara (DM); 1 : 200 000] with blistering all over genita (PC) belong to a group of congenital keratinopathies the body.4 PC (OMIM 167200 ⁄167210) has a prevalence of characterized by stress-induced epidermolysis and hyperkerato- about 1 : 100 000. It starts with thickening of the nails and is sis due to cytoskeletal fragility and clumping of intermediate later followed by foot blisters and painful callosities. Two filaments (IFs). There is no curative treatment for keratino- forms of PC exist: type 1 with mucosal involvement, and type pathies, but siRNA therapy has shown promising results in 2 with steatocystoma multiplex.5 PC.1 In patients with both EBS and PC, foot blisters and callosi- EBS and PC are caused by dominant negative keratin muta- ties deteriorate in a hot and humid environment, especially tions affecting the heterodimerization of IFs expressed in the when plantar hyperhidrosis is prominent. Alas, topical anti- basal and spinous layers of epidermis and encoded by sweating agents, such as glutaric aldehyde and aluminium KRT5 ⁄KRT14 and KRT6 ⁄KRT16 ⁄17, respectively.2,3 EBS (OMIM chloride, are insufficient to reduce the foot problems.6 How- 131800 ⁄131760) exists in two forms: the localized subtype ever, intracutaneous injection of botulinum toxin (Btx) is a previously called Weber–Cockayne; prevalence 1:25 000) with more efficacious treatment of focal hyperhidrosis.7,8 Btx inhib- predominantly foot blisters, and the generalized subtype its eccrine sweat glands by blocking the acetylcholine