Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios? / Neurofibromatosis type 1. Beyond to café-au-lait spots: necessary update criteria?

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)

Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Abstract: Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. The present study reports the case of a pediatric patient with a rapidly progressive cerebrovascular accident and a late diagnosis of Neurofibromatosis type 1 associated with moyamoya disease.

Neurofibromatosis: chronological history and current issues / Neurofibromatose: histórico cronológico e aspectos atuais

Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

A neurofibromatose, descrita inicialmente em 1882 por Von Recklinghausen, é uma doença genética caracterizada por uma anormalidade neuroectodérmica e por manifestações clínicas de envolvimento sistêmico e progressivo, que acometem principalmente a pele, o sistema nervoso, ossos, olhos e eventualmente outros órgãos, podendo apresentar uma grande diversidade de manifestações que variam de indivíduo para indivíduo. Diante da riqueza de informações encontradas a respeito da neurofibromatose, buscamos apresentá-la sob diversos aspectos, organizando os conhecimentos a respeito dessa doença. Na primeira parte desse trabalho, apresentamos um histórico cronológico, relatando a evolução dessa doença desde os primórdios das publicações a ela referentes até o momento do término desse trabalho, dando ênfase aos fatos relevantes ao seu conhecimento e que possam ser utilizados por aqueles que pretendam pesquisar a respeito dessa afecção. Na segunda parte, apresentamos uma atualização sobre os diversos aspectos que compõem essa doença.

Carcinoma mixto adenocarcinoma y neuroendocrino periampular en un paciente con neurofibromatosis tipo 1: Caso clínico / Combined periampullary adenocarcinoma and neuroendocrine tumor in type 1 neurofibromatosis: Report of one case

Neurofibromatosis is a hereditary autosomal-dominant disease, with high rates ofde novo mutations and carries a high risk ofneoplasms. It affects both sexes and all races and ethnic groups. It is characterized by múltiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52 years old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. Onphysical examination, thepatientwasjaundiced and had "café au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullarcarcinoma. Thepatientwas operated, duringthe exploration shepresented a periampullary tumor and múltiple small nodular lesions in the stomach, the tumor was resected with a pancreático dúo denectomy and the nodular gastric lesions were biopsied. Thepathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study ofthe stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good conditions.

Von Recklinghausen's disease - diagnosis from oral lesion: neurofibromatosis I / Enfermedad de Von Recklinghausen: diagnóstico desde la lesión oral: neurofibromatosis I

A 35 years-old male patient was referred to your Institution due to a nodule on the palate with more than 15 years of evolution. In general physical examination noticed the presence of papules and café au lait (coffee with milk) pigmentation in many parts of the body. Intra oral examination found a swelling in the hard palate and resilient on palpation, asymptomatic with three centimeters of diameter. Incisional biopsy was performed and the diagnosis was neurofibroma. Complete resection of the lesion was performed confirming the initial diagnosis. The general clinical findings and the presence of neurofibroma confirmed the diagnosis of Von Recklinghausen's disease. This paper emphasizes the important role of the dentist in diagnostic and follow-up of the Von Recklinghausen's disease.

Un paciente hombre de 35 años de edad fue remitido a la Institución, debido a un nódulo en el paladar con más de 15 años de evolución. En el examen físico general, notaron la presencia de pápulas y pigmentaciones café au lait (café con leche) en muchas partes del cuerpo. Al examen oral intra se encontró un aumento de volúmen en el paladar duro resistente a la palpación, asintomático, con tres centímetros de diámetro. Se realizó la biopsia incisional, y el diagnóstico fue neurofibroma. La resección completa de la lesión confirma el diagnóstico inicial. Las conclusiones clínicas generales y la presencia de neurofibroma confirmó el diagnóstico de la enfermedad de Von Recklinghausen. Este trabajo destaca el importante papel del odontólogo en el diagnóstico y seguimiento de la enfermedad de Von Recklinghausen.

Ileal polyposis as manifestation of neurofibromatosis syndrome.

A 13-year-old girl presented with features of intestinal obstruction. At surgery, the terminal 25 cm of ileum, which was resected along with the right colon, showed plexiform neurofibromatosis of the serosa and mesentery, hyperplastic submucosal and myenteric nerve plexuses and proliferation of neural tissue in the lamina propria, which manifested as diffuse polyposis of the ileal mucosa. The patient had a single inconspicuous external neurofibroma and a few café-au-lait spots on the back.