Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. (ToxHD)

Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds.

Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Toxin Hailey Darier

Hailey Hailey and Darier disease are rare genetic dermatoses. Mutations of 2 genes (ATP2C1 or ATP2A2 respectively) are responsible for the diseases. These genes have a key role in calcium pump; their defect create abnormal link between keratinocytes' desmosomes and induce skin lesions. Clinically, patients present with inflammatory lesions located in the folds. Quality of life is impaired because of pain, pruritus and tendency to infections. Lesions are permanent but acute exacerbations occur in hot seasons because of increased sweating. Usual therapies are often not effective (local treatment, laser, phototherapy). Because sweating is a well established inducing or aggravating factor, botulism toxin could be an effective treatment for these diseases. Botulism toxin is already used in clinical practice and acts via a decreased sweet secretion. Improvement of skin lesions in Hailey-Hailey or Darier diseases has been previously reported in a few cases but there is no study properly evaluating the benefit of such treatment. The aim of the project is to study the improvement of quality of life for patients suffering from Hailey-Hailey or Darier diseases after a injections of botulism toxin in large skin folds. The principal objective is to estimate the distribution of the variation of quality of life at M1 vs. baseline.

Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area

Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area

Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area

Evaluation of long term efficacy as assessed by percentage of non-responder patients with IGA score egal to 0

Evaluation of long term efficacy as assessed by delay for significant relapse (reappearance of skin lesions justifying treatment)

Evaluation of long term efficacy as assessed by comparison between the number of infection episodes occurred during the 6 months before the study or during the 6 months of the study

Inclusion Criteria: Confirmed diagnosis (clinical and histological features) of Hailey Hailey or Darier diseases. Moderate to very severe lesions located in large folds Patient aged 18 ans or more Patient with health coverage Patient who have signed the consent form Patient proficient into filling out the questionnaires. Exclusion Criteria: Hypersensibility to toxin or excipients Myastheny Deglutition's problems Past medical history of dysphagia or aspiration pneumonia Pregnancy (positive B-HCG test performed a maxima 72h before) or breastfeeding Mental , physical incapacity to fill in the questionnaires Guardianship patients Skin infections at the inclusion visit Application in the last 7 days at the site of injection of local treatments (apart emollients or antiseptics) or injections of botulism toxin or dynamic phototherapy or laser in the last 6 months. Systemic treatment with aminosides in the last 15 days Inclusion in another study in the last 2 months.

Dreyfus I, Maza A, Rodriguez L, Merlos M, Texier H, Rousseau V, Sommet A, Mazereeuw-Hautier J. Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study. Orphanet J Rare Dis. 2021 Feb 18;16(1):93. doi: 10.1186/s13023-021-01710-x.