José Antonio Ortega-Martell

Treacher-Collins syndrome and co-existing dermatomyositis.

BACKGROUND Treacher-Collins syndrome, an autosomal dominantly inherited malformation of structures derived from the first and second branchial arch, has an incidence of 1:10,000 newborns. The prevalence of dermatomyositis at less than 24 years of age has been estimated at 1 per 100,000. The occurrence of both Treacher-Collins syndrome and dermatomyositis combined in the same patient should occur once in every 1,000,000,000 subjects. METHODS We report a patient with Treacher-Collins syndrome who developed dermatomyositis at the age of 5 years. RESULTS No other patient with both Treacher-Collins syndrome and an autoimmune disease has been reported. The thymus originates from the third branchial pouch and is unaffected by the syndrome. In Treacher-Collins syndrome the affected gene has been mapped to the fifth chromosome, while dermatomyositis is related to HLA B8 and DR3, coded on the sixth chromosome. No immunologic alteration has been described in patients with Treacher-Collins syndrome. CONCLUSION This is the first report of a patient with Treacher-Collins syndrome and dermatomyositis. There is no genetic or physiopathologic explanation for the concurrence of both conditions.

Consenso mexicano para el diagnóstico y tratamiento de la dermatitis atópica en adolescentes y adultos

Busqueda sistematica de la literatura en PubMed y GREAT. Con apoyo metodologico y utilizando el metodo Delphi se desarrollo un consenso formal entre 16 expertos en dermatologia y alergologia, basandose en la evidencia actual y su aplicabilidad en el contexto mexicano. A parte de una comunicacion electronica intensa, se discutieron los puntos en desacuerdo en dos reuniones presenciales.BACKGROUND The diagnostic approaches and therapeutic strategies of atopic dermatitis (AD) are generally inconsistent among physicians and health institutions. OBJECTIVE To develop a consensus statement among experts to reduce the variations in practice regarding the diagnosis and treatment of patients ≥ 12 years with AD to improve their care. METHODS Systematic literature search in PubMed and GREAT. With methodological support and using the Delphi method, a formal consensus was developed among 16 experts in Dermatology and Allergology, based on the current evidence and its applicability in the Mexican context. Apart from intense electronic communication, several issues of disagreement were discussed in two face-to-face meetings. RESULTS The clinical experts reached consensus on 46 statements related to the definition, classification, diagnostic strategies and treatment of AD. For the diagnosis we suggest the Williams criteria and for severity scoring the SCORAD (by the doctor) and POEM (by the patient). In addition to general care and treatment education (workshops), we suggest four steps for treatment, depending on severity: 1. Topical treatment with anti-inflammatory agents (and systemic: antihistamines/antileukotrienes -low level evidence-) 2. Phototherapy, 3. Cyclosporin A and 4. Dupilumab, with the possibility of managing this biological earlier on if a fast effect is needed. In extrinsic AD we suggest evaluating the addition of allergen immunotherapy or an elimination diet, if there is an IgE-mediated respiratory or food allergy, respectively. CONCLUSION The panel of experts reached consensus on relevant aspects of AD with a focus on the transcultural adaptation of recent evidence.