Clinical characterization of patients with segmental neurofibromatosis

Authors

  • Miladys Orraca Castillo Especialista de Segundo Grado en Genética Clínica. Profesora Auxiliar. Centro Provincial de Genética Médica. Pinar del Río.
  • Anitery Travieso Téllez Especialista de Primer Grado en Medicina General Integral y Genética Clínica. Centro Provincial de Genética Médica. Pinar del Río.

Keywords:

NEUROFIBROMATOSIS TYPE-1/classification/diagnosis/genetics.

Abstract

Neurofibromatosis type-1 (NF-1) is the most frequent monogenic disease in human being. In its classification a segmental variant is described as a clinical special form, not frequent characterized by "café au lait spots" or cutaneous neurofibromas extended to well-limited sectors. Six cases of segmental neurofibromatosis have been evaluated in the Service of Clinical Genetics in Pinar del Rio province since 2001. The diagnosis in pediatric ages was carried out in 67% of the cases, where no preferential distribution regarding sex was found. The "café au lait spots" and freckles in the axilla or the groin were present in the totality of patients, and 50 % of the sample suffered from Lisch nodules. Besides; osseous anomalies and learning disorders were reported in 33% of the patients included in the study. 67% of the cases resulted in new mutations and 33% inherited the disease from one of the parents. Segmental neurofibromatosis, defined as a benign entity needs a close clinical follow up, given that the systemic compromise is not null, although rare, in some situations it can be inherited from parents having other variants of the disease.

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References

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Published

2012-05-04

How to Cite

1.
Orraca Castillo M, Travieso Téllez A. Clinical characterization of patients with segmental neurofibromatosis. Rev Ciencias Médicas [Internet]. 2012 May 4 [cited 2025 Aug. 29];16(2):64-7. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/892

Issue

Vol. 16 No. 2 (2012)

Section

ORIGINAL ARTICLES

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