[Clinical characterization in patients with neurocutaneous syndrome]

Neurocutaneous syndromes are a group of genetic diseases that affect the skin, eyes, central and peripheral nervous systems. They include Neurofibromatosis type 1 (NF1), Tuberous sclerosis (TS), Von-Hippel Lindau disease, Neurofibromatosis type 2 (NF2), Ataxia Telangiectasia (AT) and Hypomelanosis of Ito.

To characterize the most frequent clinical manifestations in Neurocutaneous syndromes.

A descriptive, observational, cross-sectional and ambivalent study was carried out in the Genetics service of the General Hospital of Zone No. 20. Patients diagnosed with any neurocutaneous syndrome of any age were included and agreed to participate in the study.

Thirty-nine patients were reviewed, 21 patients (53.8%) were women and 18 (46.2%) were men. The median age of the patients was 12 years, with an interquartile range (25th-75th percentiles) of 6 and 17 years, respectively. The most frequent neurocutaneous syndromes were NF1 (62%) and ET (18%). All patients presented cutaneous manifestations, and 16 patients (42.1%) presented at least one neurological manifestation.

The timely interpretation of skin changes as primary lesions becomes a valuable instrument for the early identification of any neurological alteration; likewise, the search for skin changes should be carried out in all patients undergoing initial study for neurological manifestations.