Research Highlights
Erin Dahlke

Journal of the Dermatology Nurses' Association
April 2011 
Volume 3  Number 2
Pages 105 - 107
  PDF Version Available!

Swartling, C., Karlqvist, M., Hymnelius, K., et al. Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. Br J Dermatol. 2010;163:1072-1076.Epidermolysis bullosa simplex (EBS) and pachyonychia congenita (PC) are inherited diseases in which friction-induced blisters and calluses on the soles of the feet are a major cause of morbidity and pain. In these conditions, stress-induced epidermolysis (microblisters) and hyperkeratosis (skin thickening) develop because of an underlying disorder of epidermal cytoskeleton fragility.Epidermolysis bullosa simplex can be either localized (Weber Cockayne variant), with only the palms and soles affected, or generalized (Dowling-Meara variant), with blistering occurring all over the body. Epidermolysis bullosa simplex is caused by dominant negative mutations in the genes encoding keratins 5 or 14, molecules found in epidermal cells. Pachyonychia congenita is caused by mutations in the genes coding for keratin 6, 16, or 17. Pachyonychia congenita-1 (Jadassohn-Lewandowsky type) is characterized by subungual hyperkeratosis and focal palmoplantar keratoderma. Pachyonychia congenita-2 (Jackson-Lawler type) typically presents with steatocystomas on the body, as well as natal teeth and, sometimes, pili torti hairs.In EBS and PC, sweating of the soles of the feet leads to skin maceration. Because of the keratin defects, this macerated skin is especially susceptible to callus and blister formation from small amounts of friction. Topical antisweating agents, such as aluminum chloride, are commonly used to try to reduce foot moisture for these patients but are often insufficient.Botulinum toxin injections are an effective treatment for focal hyperhidrosis (excess sweating). Botulinum toxin inhibits the eccrine sweat glands by blocking the acetylcholine pathway. This group performed botulinum toxin plantar injections on six patients with EBS and eight patients

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