RESUMO
The term “Neurocutaneous syndromes” also known as Phakomatoses refers to a broadcategory of congenital diseases that includes anomalies of neuroectodermal and occasionallymesodermal development, hence commonly involving the skin, eyes and central nervoussystem. The term Phacomatoses was coined by Van Der Hoeve in 1921. Tuberous sclerosisis one type of Neurocutaneous syndromes. The word "tuberous sclerosis" comes from thedistinctive cortical tubers that Désiré-Magloire first described. Tuberous sclerosis is ahereditary disorder that affects numerous body systems. A 30 year old female diagnosed asTuberous sclerosis was referred by Dermatology Department. Detailed ophthalmicexamination was done. Patient was diagnosed with Adenoma sebaceum of upper eyelids inboth eyes and multiple retinal hamartoma in left eye.
RESUMO
Objetivo: relatar um caso de uma paciente de 6 anos, portadora de neurofibromatose (NF), tipo 1, com presença de neurofibroma em plexo braquial direito. Método: descrição e análise dos dados clínico-cirúrgicos da paciente com neurofibromatose atendida na Fundação Hospital Santa Casa de Misericórdia do Pará, em abril de 2005. Relato de caso: J.L.A. do sexo feminino, 6 anos, com queixa de aumento de volume e dor na região axilar direita, referindo parestesia no membro superior, correspondente (MSD), há 1 ano e 3 meses. O exame clínico revelou a presença de volumosa nodulação localizada na região axilar direita, com extensão em trajeto dos nervos mediano e cubital até 01/3 distal do MSD. Exame de ressonância magnética da região axilar comprovou a existência de massa tumoral de características neoplásicas na região axilar D e braço D. Submetida a tratamento microcirúrgico com ressecção completa da tumoração. Exame histopatológico confirmou o diagnóstico de neurofibroma, sem sinais de malignidade. Considerações Finais: a possibilidade de transformação maligna dos neurofibromas em pacientes com NF é motivo de constante preocupação. Alterações no quadro clínico, crescimento acelerado ou surgimento de sintomatologia neural, justificam intervenção cirúrgica precoce, e, muitas das vezes, tal conduta possibilita uma cura local do processo.
Neurofibromatosis is an dominant autosomic disease with skin abnormalities and nervous system neoplasms -Café-au-lait spots and fibrous peripheral neoplasms (neurofibromas) are the main features. There is also a high incidence of central nervous system, cranial nerves and spinal cord primary neoplasms, with tendency to malignization. Objective: A six years-old female patient with type 1 neurofibromatosis, harboring a huge right braquial plexus neurofibroma. Methods: Description and analysis of main clinical-pathological features of a young female harboring a huge mass in the brachial plexus treated at the Santa Casa Hospital. Case Report: Patient J.L.A., female, six years-old, with complaints of pain and a tumor in the right axilar region, with extension to right median and cubital nerves. MR examination revealed a large mass at the brachial plexus. A microsurger was perfomzed in a two-staged fashion, with complete removal of lesion. Histology revealed a typic neuroJibrom( with no signs of malignancy.Conclusions: Malignancy of a neurofibroma is always a concerning. Thus, earl interventions and complete removal of such lesions are the goal of the treatment.