Aguinaldo Bonalumi Filho

Prevalence of plexiform neurofibroma in children and adolescents with type i neurofibromatosis

OBJECTIVE To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential. METHODS A retrospective study was conducted through analysis of the database at Centro Nacional de Neurofibromatose [Brazilian Neurofibromatosis Center], collected from the following reference services between 1996 and 2004: Instituto de Dermatologia Prof. Rubem David Azulay da Santa Casa de Misericórdia do Rio de Janeiro, Instituto de Pediatria e Puericultura Martagão Gesteira da Universidade Federal do Rio de Janeiro and Department of Immunology and Microbiology at Faculdade de Medicina de Teresópolis. RESULTS Over that period, 104 patients aged between 1-17 years were admitted with clinical diagnosis of type I neurofibromatosis. Of these, 53 were male and 51 were female, and 28 patients (15 male and 13 female) had plexiform neurofibroma (26.9%). Division by age group resulted in 21.42% (six) between 1-5 years; 35.71% (10) between 6-12 years and 42.85% (12) between 13-17 years. Of the 104 patients, two developed a malignant peripheral nerve sheath tumor (1.92%). CONCLUSIONS Plexiform neurofibromas are relatively common manifestations in patients with type I neurofibromatosis and may be a cause of significant increase in morbidity and mortality among patients. In this study, we conclude that frequency of plexiform neurofibroma and its malignant potential in the population studied is in agreement with data from the international literature.

Prevalência de neurofibromas plexiformes em crianças e adolescentes com neurofibromatose tipo 1

OBJECTIVE: To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential. METHODS: A retrospective study was conducted through analysis of the database at Centro Nacional de Neurofibromatose [Brazilian Neurofibromatosis Center], collected from the following reference services between 1996 and 2004: Instituto de Dermatologia Prof. Rubem David Azulay da Santa Casa de Misericordia do Rio de Janeiro, Instituto de Pediatria e Puericultura Martagao Gesteira da Universidade Federal do Rio de Janeiro and Department of Immunology and Microbiology at Faculdade de Medicina de Teresopolis. RESULTS: Over that period, 104 patients aged between 1-17 years were admitted with clinical diagnosis of type I neurofibromatosis. Of these, 53 were male and 51 were female, and 28 patients (15 male and 13 female) had plexiform neurofibroma (26.9%). Division by age group resulted in 21.42% (six) between 1-5 years; 35.71% (10) between 6-12 years and 42.85% (12) between 13-17 years. Of the 104 patients, two developed a malignant peripheral nerve sheath tumor (1.92%). CONCLUSIONS: Plexiform neurofibromas are relatively common manifestations in patients with type I neurofibromatosis and may be a cause of significant increase in morbidity and mortality among patients. In this study, we conclude that frequency of plexiform neurofibroma and its malignant potential in the population studied is in agreement with data from the international literature.

Neurofibromatose tipo 1 na infância: revisão dos aspectos clínicos

Objective: To review clinical and diagnostic features of neurofibromatosis type 1 (NF1) in children and adolescents. Data sources: Articles published from 1998 to 2007 and retrieved by the words “neurofibromatosis type 1”; “neurofibroma”, “von Recklinghausen” and “optic pathway gliomas” in Medline database. Data synthesis: NF1 is a chronic and progressive autosomal dominant disorder with an incidence of 1/2,000 to 1/7,800 live births. There is no racial, geographic or gender preference. Half of the cases represent new mutations, and the mutation rate for NF1 gene is 1/10.000. The high mutation rate of NF1 may reflect the fact that the gene is large and/or that it has an unusual internal structure, predisposing it to deletions and other mutations. The presuntive diagnosis of NF1 is made on clinical basis. The three main features – neurofibromas, cafe-au-lait spots and Lisch nod ules – are present in more than 90% of all affected patients until puberty. Conclusions: The mainstay of care for patients with NF1 is anticipatory guidance and early detection and treatment of disease complications. Counseling of patients and their families should provide a realistic overview of possible clinical complications, while emphasizing that most individuals with NF1 have healthy and productive lives

Plexiform neurofibroma in the ear canal of a patient with type I neurofibromatosis

Type 1 neurofibromatosis (NF-1) is a multisystem genetic disease with significant cutaneous manifestations such as cafe-au-lait spots, freckles and neurofibromas. The incidence of NF-1 is about 1 : 2 500 new births; it affects equally all races and both sexes. Estimates show that there are currently in Brazil about 80 000 cases; worldwide, there are about 1.5 million cases of NF-1. A diagnosis of NF-1, according to criteria established by the “National Institutes of Health” (NIH) in 1987 and updated in 1990, depend on a careful clinical examination of the patient, his or her parents and siblings, and a detailed family medical history; at times, laboratory exams are needed. The plexiform neurofibroma (PN), also named plexiform neuroma, pachydermatocele or neurofibromatous elephantiasis, has been classified as a benign tumor of peripheral nerve sheath involving multiple nerve fascicles. It is a highly vascularized, slow-growing and locally invasive non-metastatic tumor. PNs are one of the important complications of NF-1; it may occur in infancy and rarely after adolescence. Although frequent in patients with NF-1, PNs are not pathognomonic of NF-1. The most common site is the trunk (43%), followed by the head and neck (42%) and limbs (15%). PNs may give rise to malignant peripheral nerve sheath tumors (MPNST) that in the past were referred to as neurofibrosarcomas or malignant schwannomas; these are the main cause of death and the most common malignancies in this group of patients. NF-2 is characterized by bilateral vestibular schwannomas, rarely with cutaneous manifestations. Typical lesions are schwannomas that may be present in the acoustic nerve or in other cranial nerves (nerve V, and sometimes nerve X) and meningiomas. CASE STUDY

nevo intraDérmiCo Cerebriforme Como Causa De cutis verticis gyrata

Cutis verticis gyrata (CVG) e uma doenca rara que se caracteriza por excesso de pele no couro cabeludo, produzindo dobras espessas que levam a formacao de sulcos que se assemelham aos giros do cortex cerebral. Foi, inicialmente, descrita na literatura por Robert, no ano de 1.843, tendo o nome cutis vertice gyrata sido proposto por Unna em 1.907, sendo este aceito ate hoje 1,2 . Apresenta uma prevalencia estimada de um caso para cada 100.000 homens e de 0.026 casos para cada 100.000 mulheres 3 . Pode tratar-se de uma manifestacao isolada presente