Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study

• Published in: Orphanet journal of rare diseases Vol. 16; no. 1; pp. 93 - 9
• Main Authors: Dreyfus, Isabelle, Maza, Aude, Rodriguez, Lauriane, Merlos, Margot, Texier, Hélène, Rousseau, Vanessa, Sommet, Agnès, Mazereeuw-Hautier, Juliette
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18.02.2021; BioMed Central; BMC
• Subjects: Botulinum toxin; Botulinum toxin type A; Botulinum Toxins, Type A - therapeutic use; Care and treatment; Darier Disease; Darier's disease; Dermatology; Disease; Dosage and administration; Genetic disorders; Hailey hailey disease; Humans; Inflammation; Keratosis; Medical research; Odor; Pain; Patient satisfaction; Pemphigus, Benign Familial - drug therapy; Pilot Projects; Quality of Life; Rare diseases; Skin; Skin diseases; Skin lesions; Sweating; Testing; Values; France; Hailey hailey disease; Botulinum toxin; Darier disease; Quality of life
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-021-01710-x

Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired because of pain and recurrent skin infections. An improvement in skin lesions after botulinum toxin A injections has previously been reported in some patients but no prospective interventional studies are available. The aim of this open-label, 6-month, interventional pilot study (NCT02782702) was to evaluate the effectiveness and safety of botulinum toxin A for patients with moderate to very severe skin lesions located in folds. Thirty patients (26 Hailey-Hailey/4 Darier) were included. Botulinum toxin A proved effective within the first month in two-thirds of patients, taking all study parameters (itchiness, cutaneous pain, sweating and odour, infections, psychosocial impairment and quality of life) into account and persisted during the 6-month follow-up period. No patient was classed as a BtxA non-responder, but 11 (37%) Hailey-Hailey patients (the most severe ones), experienced a relapse during the study. No serious side effects were reported. Mild transient clear fluid discharge at the site of the injections was reported for 27% of patients. Botulinic toxin seems to be an effective and safe treatment for Hailey-Hailey and Darier diseases. Nevertheless, it may prove insufficient for the severest of Hailey-Hailey cases and could be considered as supplementary to other conventional treatments. Further studies are required to confirm our results on larger Darier cohorts.