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1. First Symposium of Ichthyosis Experts

Author

Hernández Martin, A., Lucas, R. de, Casco, F., González Sarmiento, R., Vega, A., Pedreira Massa, J. L., Unamuno Pérez, P. de, Larcher Laguzzi, Fernando, Arroyo, I., and Torrelo Fernández, Antonio

Subjects
Ichthyosiform congenital erythroderma, Ichthyosis, Ictiosis, Trastornos de la queratinización, Keratinization disorders, Eritrodermia ictiosiforme congénita
Abstract

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject. El día 22 de junio de 2012 se celebró en el Hospital Niño Jesús la I Jornada de expertos en ictiosis, una jornada monográfica dirigida a dermatólogos, pediatras y médicos en formación interesados en esta enfermedad, así como al resto de profesionales sanitarios que participan en su atención. El objetivo de la l Jornada de expertos en ictiosis fue intentar estructurar la atención de los pacientes con ictiosis en España. Como ocurre con el resto de las enfermedades raras, su escasa prevalencia y la ausencia de centros de referencia formales diluyen el número de pacientes atendidos en cada centro, y pocos dermatólogos tienen verdadera experiencia clínica o conocen la manera de solicitar diagnóstico genético. En este artículo se resumen las ponencias expuestas en la Jornada para consulta de aquellas personas interesadas en el tema. Pathophysiology of Keratinization Disorders / Ángela Hernández . -- Extracutaneous Manifestations of Ichthyosis / Antonio Torrelo . -- New Clinical Classification of the Ichthyoses / Raúl de Lucas . -- Use of Histologic Diagnosis in Ichthyosis / Fernando Casco . -- Genetic Diagnosis of Ichthyosis / Rogelio González Sarmiento . -- The Multidisciplinary Approach in Ichthyosis: Psychological Care / José Luis Pedreira Massa . -- Collodion Baby and Congenital Erythroderma: Clinical Management and Course / Heiko Traupe . -- Treatment of Ichthyosis / Heiko Traupe . -- Lessons Learned from Experience / Pablo de Unamuno . -- Looking Towards the Future: Humanized Models of Ichthyosis and other Hyperkeratotic Disorders / Fernando Larcher, Marcela del Río . -- What Patients Need / The Leader ship Team of the Spanish Ichthyosis Association . -- Conclusions / Ángela Hernández Publicado

Published
2013

2. Outcome of patients with retinoblastoma and postlaminar optic nerve invasion.

Author

Chantada GL, Casco F, Fandiño AC, Galli S, Manzitti J, Scopinaro M, Schvartzman E, and de Dávila MT

Subjects
Antineoplastic Combined Chemotherapy Protocols therapeutic use, Child, Child, Preschool, Disease-Free Survival, Female, Humans, Infant, Male, Neoplasm Invasiveness, Neoplasm Recurrence, Local, Optic Nerve Neoplasms drug therapy, Optic Nerve Neoplasms mortality, Retinal Neoplasms drug therapy, Retinal Neoplasms mortality, Retinoblastoma drug therapy, Retinoblastoma mortality, Retrospective Studies, Survival Rate, Treatment Outcome, Optic Nerve Neoplasms pathology, Retinal Neoplasms pathology, Retinoblastoma pathology
Abstract

Purpose: To evaluate the outcome of patients with retinoblastoma and postlaminar optic nerve invasion (PLONI)., Design: Retrospective interventional case series., Participants: Sixty-one consecutive patients included in 3 successive protocols were analyzed., Methods: Pathologic review was done in each case. Patients were stratified into 2 risk groups: the high-risk group included those with concomitant full choroidal and/or scleral invasion and were given adjuvant chemotherapy. Those without these features were considered low risk and chemotherapy was withheld after 1994., Main Outcome Measures: Extraocular relapse and survival according to stratification., Results: The probability of event-free survival (pEFS) was 0.91 and the probability of overall survival (pOS) was 0.94 at 5 years. Patients in the high-risk group (n = 22) had pEFS of 0.86. Three had extraocular relapse (involving the central nervous system; all died of disease). Microscopic scleral invasion was associated to extraocular relapse (P = 0.05). Lower risk patients (n = 39) had a pEFS of 0.94 and pOS of 1. Eighteen received postenucleation chemotherapy and none relapsed. Twenty-one received no adjuvant therapy and 2 had a systemic relapse but were successfully retrieved. Relapsing patients had a higher ratio of affected optic nerve (>25% of it overall length; P = 0.02)., Conclusions: Patients with PLONI have an excellent outcome with current therapy. Risk stratification according to the presence of concomitant choroidal and/or scleral invasion may help in the decision of giving adjuvant therapy.

Published
2007
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