[Clinical study of neurofibromatosis type 1].

INTRODUCTION: Recklinghausen's disease is considered to be the autosomal dominant disorder with the highest rate of mutation after achondroplasia. It is a neuroectodermal disorder with considerable clinical effects.

PATIENTS AND METHODS: We present a study of 14 patients seen for café-au-lait spots in the Clinical Genetics Department of the Hospital Infantil Sur. A detailed questionnaire and physical examination was done to obtain a clinical outline.

CONCLUSION: Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis.