Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios / Incontinentia pigmenti. A descriptive study of experience in two different hospitals

Introducción: La incontinencia pigmenti es una genodermatosis poco frecuente, de herencia ligada al cromosoma X, que afecta a tejidos derivados del ectodermo. Nuestro objetivo es revisar de la forma más completa posible los casos diagnosticados en edad pediátrica en dos hospitales. Material y métodos: Se ha realizado un estudio transversal retrospectivo, recogiéndose datos clínicos, analíticos, radiológicos y genéticos valorados a nivel multidisciplinar de pacientes diagnosticados en la edad pediátrica de incontinencia pigmenti desde el año 2004 al 2018. Resultados: Se incluyeron 13 pacientes diagnosticados de incontinencia pigmenti, todas de sexo femenino. Se realizó estudio genético en 11 de las 13, confirmándose alteraciones compatibles en 10 de ellas. Se observó afectación extracutánea relacionada con la enfermedad a nivel neurológico (con alteraciones radiológicas en 6 casos y expresión clínica en 3 de ellas), oftalmológico (4 casos), odontológico (7 casos) y hematológico (4 casos). Conclusiones: Presentamos el estudio más completo publicado hasta ahora de incontinencia pigmenti en España. Los resultados del estudio de las manifestaciones de la enfermedad fueron similares a las series de casos más amplias publicadas a nivel internacional y refuerzan la importancia de un estudio y seguimiento multidisciplinar

Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the X chromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals. Material and methods: A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018. The data collected were analysed and evaluated at a multidisciplinary level. Results: A total of thirteen patients diagnosed with incontinentia pigmenti were included in the study. All of them were female. A genetic study was performed on 11 patients, which confirmed findings compatible with incontinentia pigmenti in 10 of them. Extracutaneous involvement associated with the disease was observed at neurological level (radiological findings in 6 cases, and clinical expression in 3 of them), ophthalmological level (4 cases), dental level (7 cases), and haematological level (4 cases). Conclusions: A presentation is given of the most complete study published so far of incontinentia pigmenti in Spain. In this study, the results of the disease manifestations were similar to the largest case series published internationally, which reinforces the importance of a multidisciplinary study and follow-up

[Incontinentia pigmenti. A descriptive study of experience in two different hospitals]. / Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios.

INTRODUCTION: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the Xchromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals. MATERIAL AND METHODS: A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018. The data collected were analysed and evaluated at a multidisciplinary level. RESULTS: A total of thirteen patients diagnosed with incontinentia pigmenti were included in the study. All of them were female. A genetic study was performed on 11 patients, which confirmed findings compatible with incontinentia pigmenti in 10 of them. Extracutaneous involvement associated with the disease was observed at neurological level (radiological findings in 6 cases, and clinical expression in 3 of them), ophthalmological level (4 cases), dental level (7 cases), and haematological level (4 cases). CONCLUSIONS: A presentation is given of the most complete study published so far of incontinentia pigmenti in Spain. In this study, the results of the disease manifestations were similar to the largest case series published internationally, which reinforces the importance of a multidisciplinary study and follow-up.