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Folia Dermatológica Cubana
Von Yordania Velázquez Ávila, Miladys Orraca Castillo, Níger Guzmán Pérez und 1 weiteren.
Inhalt auf Englisch
Two percent of patients with Legius syndrome meet the diagnostic criteria for neurofibromatosis type 1.
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To evaluate the proposal to modify the diagnostic criteria for neurofibromatosis type 1.
A quasi-experimental study was conducted in Las Tunas with a sample of 119 patients who met the current criteria for neurofibromatosis type 1. The Delphi variant of the expert method was applied, with consultation of a group of Cuban specialists in dermatology, clinical medical genetics, and pediatrics. The proposal to modify the diagnostic criteria for this disease was designed. Molecular genetic testing for neurofibromatosis type 1 was performed on those who met only the presence of café-au-lait macules and Crowe sign. A diagnosis of Legius syndrome was considered when the molecular test was negative. The proportion of patients according to manifestations, the positivity index, Fisher exact test, and Yates adjusted correction were studied with p≤0.05. To determine the degree of agreement between current criteria and modified criteria, Cohen Kappa index was determined.
Most patients who presented only café-au-lait macules associated with Crowe sign were negative for the molecular genetic test for neurofibromatosis type 1, and were diagnosed with Legius syndrome. When evaluating the effectiveness of the proposed modified criteria, F=94.37218 was determined with P=0.000001 and KC=0.88.
The modified criteria allow the diagnosis of neurofibromatosis type 1 with 95 % reliability, and avoid misdiagnosis with Legius syndrome.
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