Year: 2025
Type: article
Study design: Case Report
Abstract: The genodermatoses is genetic diseases that affect to the skin and their old ones, in those which alone they influence hereditary mechanisms linked to the genes. The neurofibromatosis type 1 are a genodermatoses that belongs to the group of the Rasophaties, with brown formation of stains with milk and tumours in skin and nervous system. This diseases can be diagnose clinically with the presence of two clinical approaches. In the year 2001 a Rasophatie was described that previously it was considered a clinical form of the neurofibromatosis, but it was demonstrated by means of molecular studies that it is a different diseases and it was designated as Legius syndrome. This syndrome completes two of the current diagnostic approaches of the neurofibromatosis type 1, when presenting coffee with milk macula and axillary or inguinal ephelides, being difficult to differentiate them. Although at the moment molecular studies of sequence exist for the diagnosis of both rasopatías, in some countries it is a non-available technology. In Cuba, like part of a methodology for the attention to patient with genodermatoses, the proposal of modification of diagnostic approaches of neurofibromatosis type 1 were included, unifying in one single approach the presence of coffee with milk macula and axillary or inguinal ephelides. The presentation is made with the purpose of standing out the importance of modifying the diagnostic approaches of neurofibromatosis type 1, proposed in the methodology. An adolescent is described that presented coffee with milk macula, axillary ephelides and overturn for deficit of attention with hyperactivity, assisted in specialized consultation of genodermatoses in the Pediatric Hospital “Martyrs of Tunas” with diagnostic presumptive of neurofibromatosis type 1. In the presented case the proposed approaches and the molecular study of neurofibromatosis type 1 negative, they guided toward the diagnosis of Legius syndrome. This case demonstrates the importance of the modification of the diagnostic approaches of neurofibromatosis type 1, proposed in the methodology for the attention to patient with genodermatoses that avoids the diagnostic error.
Source: Clinical Medicine Research
Authors: Yordania Avila, Carmen Valenciano
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411840096