Clinical Findings in 67 Patients With Tuberous Sclerosis

Fernández-Guarino, M.; Boixeda, P.; Anaya, M.J.; Beldar, P.; Jaén, P.

doi:10.1016/S1578-2190(09)70127-1

Article information

Abstract

Background

Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria.

Objective

To report the clinical findings in a series of 67 patients with tuberous sclerosis.

Material and methods

This was a descriptive and observational retrospective study of patients with tuberous sclerosis referred to our dermatology clinics between January 1994 and March 2007.

Results

All patients presented neurological or dermatological disorders. Other disorders, in descending frequency, were psychiatric (55.5%), renal (32.8%), cardiac (22.4%), skeletal and pulmonary (13.4%), and ophthalmological (11.9%).

Conclusions

We report the clinical findings in a series of patients with tuberous sclerosis. According to our literature search, this is the first such study in the Spanish population. Overall, our findings support those already published.

Key words:

tuberous sclerosis

skin manifestations

neurological manifestations

Resumen

Introducción

La esclerosis tuberosa (ET) es un síndrome neurocutáneo infrecuente caracterizado por la aparición de hamartomas en múltiples órganos. Su diagnóstico se basa en criterios clínicos.

Objetivo

Describir los hallazgos clínicos en una serie de 67 pacientes afectos de ET.

Material y métodos

Llevamos a cabo un estudio retrospectivo, descriptivo y observacional de los pacientes con ET remitidos a nuestras consultas de Dermatología entre enero de 1994 y marzo de 2007.

Resultados

El 100% de los pacientes presentaron alteraciones neurológicas o dermatológicas. El resto fueron, por orden: psiquiátricas (55,5%), renales (32,8%), cardíacas (22,4%), esqueléticas y pulmonares (13,4%) y oftalmológicas (11,9%).

Conclusiones

Describimos los hallazgos clínicos en una serie de pacientes afectos de ET. Se trata, según la literatura revisada, del primer estudio de este tipo en la población española. Globalmente, nuestros datos apoyan lo hasta ahora publicado.

Palabras clave:

esclerosis tuberosa

manifestaciones dermatológicas

manifestaciones neurológicas

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