Aude Maza

Prevalence of inherited ichthyosis in France: a study using capture-recapture method

BackgroundInherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France.MethodsCapture – recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period.ResultsThe prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 – 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 – 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 – 5.9]) and 1.9/M (CI 95% [1.6 – 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 – 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 – 2.6]).ConclusionsOur results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.

Botulinum Toxin A: An Effective Treatment for Linear Immunoglobulin A Bullous Dermatosis Located in the Axillae

Linear immunoglobulin A bullous dermatosis (LABD) is a rare chronic disease, but it is the most frequent auto-immune bullous disease in children (1). In this age group, the eruption is characterized by a clustered arrangement of blisters, located mainly on the lower abdomen, perineum, and perioral area (2). In adults, the eruption is polymorphic, with no specific anatomical sites, and can simulate other auto-immune bullous diseases (1). Functional symptoms vary from mild pruritus to severe burning. Histological examination reveals a dense superficial dermal infiltrate made of neutrophils and eosinophils in the form of micro-abscesses on top of papillae, together with dermo-epidermal detachment. LABD is caused by IgA auto-antibodies typically directed against a proteolytic fragment of 180-kDa bullous pemphigoid antigen (BP180) detected as a 97 or 120 kDa protein on western blotting, and/or other components of the dermal–epidermal junction (3). Direct immunofluorescence is characterized by linear IgA deposits on the basal membrane. First-line treatment for LABD is dapsone, used as monotherapy or in combination with systemic corticosteroids. For patients not responding to dapsone, sulphapyridine, immunosuppressive drugs, immunoglobulins or rituximab have been advocated (4). We report here the efficacy of botulinum toxin A (BtxA) injections for LABD located in the axillae.

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.

© 2014 The Authors. doi: 10.2340/00015555-1818 Journal Compilation

Traitement des angiomes plans de l’enfant par laser à colorant pulsé et timolol gel

Les 3 effets indésirables (EI) les plus fréquents ont été : nausées (23 %), diarrhée (19 %) et asthénie (15 %). Cinq patients sur 26 (19,2 %) ont présenté des EI de grade ≥ G3 liés au médicament : hypertension, somnolence, prurit, frissons, hyperkaliémie et fièvre. La réduction du score mSWAT a été associée à une amélioration du prurit. Discussion.— Le TRc de 24 % observé est en accord avec les résultats obtenus dans les autres protocoles de traitement des LTCs par des iHDACs. Conclusion.— Le quisinostat est efficace chez les patients atteints de MF/SS récidivant ou réfractaire, avec un profil de tolérance acceptable. Déclaration d’intérêt.— M. Bagot : Aucun, F. Child : Aucun, P. Ortiz Romero : Aucun, R. Alvarez : Aucun, R. Stadler : Aucun, M. Weichenthal Consultant pour : Merck, R. Alves : Aucun, M. G. Bernengo : Aucun, M. Beylot-Barry : Aucun, R. Cowan : Aucun, L. Geskin : Aucun, A. Pérez Consultant pour : Pfizer, P. Hellemans Actionnaire de : J&J, Employé de : J&J, Y. Elsayed Actionnaire de : J&J, Employé de : J&J, C. Phelps Actionnaire de : J&J, Employé de : J&J, A. Forslund Employé de : J&J, M. Kamida Employé de : J&J, P. Zinzani Consultant pour : Celgene ; Millennium Takeda.