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Resumen Introducción: la neurofibromatosis es un desorden genético, que afecta el crecimiento de tejidos neurales, con una incidencia de 1 en 4 000 personas, con impacto en la esperanza de vida por su asociación con neoplasias y enfermedad vascular. La neurofibromatosis segmentaria es una variante de la neurofibromatosis tipo 1, con una incidencia aproximada de 1 en 20 000 a 25,000 personas, se caracteriza por lesiones cutáneas que afectan un segmento corporal sin cruzar la línea media. Generalmente no tienen historia familiar ni compromiso sistémico. Caso clínico: paciente de sexo femenino de 63 años con dermatosis que afecta el tronco posterior de manera unilateral a nivel de los dermatomas T10-T11, caracterizada por múltiples neoformaciones exofíticas milimétricas en forma de domo, de consistencia blanda y depresibles a la palpación. El estudio histopatológico de una de ellas confirmó el diagnóstico de neurofibroma. La paciente no presentaba afectación neurológica ni ocular, además, sin afección en familiares, por lo que se establece diagnóstico de neurofibromatosis segmentaria. Conclusiones: la neurofibromatosis segmentaria es una patología poco frecuente, Aunque posiblemente sea subdiagnosticada por su carácter asintomático, lo que ocasiona una aparente baja incidencia. Los pacientes que la padecen pueden presentar penetrancia sistémica variable y un riesgo similar de neoplasias al descrito en pacientes con neurofibromatosis tipo 1. Pese al carácter benigno reportado en la literatura sugerimos un abordaje multidisciplinario de los pacientes.
Abstract Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease. segmental neurofibromatosis is a subtype of neurofibromatosis type 1, with an approximate incidence of 1 in 20 000 to 25 000 people, it is characterized by skin lesions that affects a body segment without crossing midline, they generally have no family history or systemic involvement. Clinical case: a 63-year-old female patient with dermatosis affecting the posterior trunk unilaterally at the level of dermatomes t10-t11, characterized by multiple exophytic, dome-shaped, millimeter sized neoformations, soft in consistency and depressible on palpation. the histopatologic study of one of them confirmed the diagnosis of neurofibroma. the patient did not present neurological or ocular involvement, without affection in relatives. diagnosis of segmental neurofibromatosis was made. Conclusions: segmental neurofibromatosis is a rare pathology, although it is possibly underdiagnosed due its asymptomatic nature, which causes an apparent low incidence. patients may present variable systemic penetrance and a similar risk of neoplasm compared to patients with neurofibromatosis type 1. despite the benign nature reported in the literature, we suggest a multidisciplinary approach to patients.
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Resumen La neurofibromatosis (NF) segmentaria, actualmente llamada NF mosaico, es una variante rara de neurofibromatosis, sin afectación sistémica y limitada a un segmento corporal. Los pacientes no presentan historia familiar de enfermedad. El cuadro clínico se caracteriza por manchas café con leche, neurofibromas o ambos. Se comunican dos casos de niñas con NF segmentaria solo con cambios pigmentarios,sin alteraciones sistémicas.
Abstract True segmental neurofibromatosis is an uncommon variant of neurofibromatosis, without systemic involvementand limited to a body segment. Patients don´t have family history of disease. The manifestations arecharacterized by café au lait spots, neurofibromas or both. We report two cases of girls with segmental NF with pigmentary changesonly, without systemic alterations.
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RESUMEN Presentamos un caso de neurofibromatosis segmentaria, en un paciente de sexo masculino de 60 años de edad. Los neurofibromas se localizaban en región cervical, los mismos eran asintomáticos, de 8 años de evolución.
ABSTRACT A case of segmental neurofibromatosis in a 60 years old male patient is presented along with a brief review of the literature. The patient had 8 years old neurofibromas, located in the cervical region; they were asymptomatic. No other alteration of type 1 neurofibromatosis was found.
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Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/patologia , Neurofibromatose 1/terapia , Neurofibroma/epidemiologiaRESUMO
Se presenta paciente con historia familiar de neurofibromatosis (NF) tipo I, con síntomas y signos sugestivos de esta enfermedad que refiere dolor torácico paravertebral izquierdo al cual mediante estudios de imagen se le diagnostica lesión tumoral en mediastino posterior. Es de notar la presencia de manchas cutáneas características de la neurofibromatosis, localizadas solo en un dermatoma del cuerpo sin neurofibromas en ninguna otra localización. Se intervino quirúrgicamente el enfermo, se resecó una gran masa mediastinal que se confirmó histológicamente ser un neurofibroma. La evolución posquirúrgica fue satisfactoria. Se discuten las singularidades de este enfermo sobre la base de criterios diagnósticos de neurofibromatosis tipo I, pero sin neurofibromas periféricos hasta ese momento. La posibilidad de una neurofibromatosis segmentaria tampoco se descarta. Se hace énfasis en la necesidad de resección de cualquier lesión tumoral en el contexto de este síndrome genético por la frecuencia de lesiones malignas asociadas a la neurofibromatosis y a la progresión hacia la malignidad de lesiones primariamente benignas(AU)
A patient with a family history of Neurofibromatosis type I was presented. The patient referred symptoms and signs suggestive of that disease and complaint of left paravertebral chest pain. Imaging investigations were done and a posterior mediastinal tumor was diagnosed. It is important to highlight the presence of characteristics spot of neurofibromatosis localized only in one dermatome without neurofibromas in any other part of the body. The patient underwent a surgical intervention and a left thoracotomy was done, a large posterior mediastinal tumor was found and totally resected. The histology confirmed a neurofibroma. The postoperative evolution was satisfactory. The singularities of this patient were discussed, especially diagnosis criteria for neurofibromatosis type I, and the lack of peripheral neurofibromas until that moment. The possibility for a segmental neurofibromatosis also was considered. We pointed out about the necessity to remove any neoplastic lesion in the background of this genetic syndrome due to the high frequency of malignancies associated with neurofibromatosis, and also related with the malignant degeneration these tumors can develop(AU)
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Humanos , Masculino , Adulto , Mediastino/lesões , Neurofibromatose 1 , Neurofibroma/cirurgia , Toracotomia/efeitos adversosRESUMO
RESUMEN Introducción: La Neurofibromatosis segmentaria se caracteriza por la presencia de manifestaciones de Neurofibromatosis tipo 1 limitadas a un área del cuerpo, y sin antecedente de familiares afectados. Es un ejemplo de mosaicismo, en el cual la enfermedad localizada resulta de una mutación somática post-cigótica en el gen de la Neurofibromatosis tipo 1, pudiendo afectar tanto la línea celular somática como gonadal. Es una enfermedad sub-diagnosticada, debido a que la mayoría de los pacientes con Neurofibromatosis segmentaria son asintomáticos o tienen pocos signos clínicos por lo cual la enfermedad puede pasar inadvertida, incluso para el paciente. Casos clínicos: Describimos tres casos clínicos de Neurofibromatosis segmentaria. Un niño de 6 años con una presentación bilateral, manifestada por una mancha café con leche localizada en el dorso desde el nacimiento y que a los 2 años agrega neurofibromas a ese nivel; una niña de 6 años que se presenta con un neurofibroma plexiforme a nivel del plexo braquial izquierdo sin otros elementos de Neurofibromatosis tipo 1; y por último una niña de 8 años con manchas café con leche y pecas inguinales en miembro inferior izquierdo, que desde el punto de vista neuropsicológico asocia un trastorno por déficit atencional con hiperactividad. Discusión: Es crucial conocer esta entidad y poder diagnosticarla en forma temprana en vistas a su manejo correcto yasesoramiento genético. Esto último es difícil dada la posible presencia de mosaicismo gonadal por la cual un paciente con Neurofibromatosis segmentaria puede tener descendientes con Neurofibromatosis tipo 1.
ABSTRACT Introduction: Segmental neurofibromatosis refers to patients with manifestations of Neurofibromatosis type 1 limited to a segment of the body, without affected relatives. It is an example of mosaicism. It occurs as a result of a postzygotic mutation in the Neurofibromatosis type 1 gene. Both somatic and gonadal cells can be affected.As most patients are asymptomatic or have few clinical signs, it can go unnoticed, even for the patient, so it is an underdiagnosed disease. Clinical cases: we describe three cases of segmental Neurofibromatosis: a 6 years old boy with bilateral presentation, characterized by a dorsal trunk café au lait spot from newborn period, which added a neurofibroma at 2 years of age; a 6 years old girl with a left brachial plexus plexiformneurofibroma; and a 8 years old girl with left inguinal fold freckles and café au lait spots, who associated anattentional deficit with hyperactivity disorder. Discussion: It is important to know this disorder, in order to make an early diagnosis, an appropriate treatment and genetic counseling. This last point is difficult due to the possibility of a gonadal mosaicism, by which a patient with segmental Neurofibromatosis can have descendants with Neurofibromatosis type 1.
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Neurofibromatosis (NF) is a dysplastic disease which consists of multiple cafe-au-lait spots and neurofibromas from neural sheath. The 61-year-old male patient complained of sudden severe pain on the left buttock started one month ago. On physical examination, multiple "lentigines" were seen on his left buttock which spreaded to the thigh and small soft protruding nodules were observed on the right side of the back and left shoulder. Histopathologic finding of a specimen obtained from a nodule was consistent with neurofibroma. Magnetic resonance imaging (MRI) and ultrasonography revealed asymmetrical hypertrophy of neurovascular bundle located in the left greater sciatic foramen. On diagnosing as NF, he was treated with medication, physical modalities and therapeutic intervention (caudal block). Visual analogue scale (VAS) went down to 3/10 with these treatments and he was discharged. We report successful treatment of buttock pain rarely associated with segmental neurofibromatosis.
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Humanos , Masculino , Pessoa de Meia-Idade , Nádegas , Manchas Café com Leite , Hipertrofia , Imageamento por Ressonância Magnética , Neurofibroma , Neurofibromatoses , Exame Físico , Ombro , Coxa da PernaRESUMO
Segmental neurofibromatosis is a rare skin disorder characterized by neurofibromas and/or cafe-au-lait spots, limited to one dermatome of the body1. This disorder was first described by Gammel2 in 1931. The neurofibromas of segmental neurofibromatosis are commonly occupied by either a thoracic or a cervical dermatome and are unilateral, occuring more often on the right side than the left in young adults. According to Korean Dermatologic literature, 11 cases of segmental neurofibromatosis were reported. Among them, 7 cases showed unilateral involvement and 4 cases showed bilateral dermatomal involvement. We report a case of segmental neurofibromatosis which developed in a 76-year-old female. The skin lesions were situated on the left parietal scalp of the C2 dermatome, and had not been previously reported. We recommended surgical excision, but the patient refused further treatment.
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Idoso , Feminino , Humanos , Adulto Jovem , Manchas Café com Leite , Neurofibroma , Neurofibromatoses , Neurofibromatose 1 , Rabeprazol , Couro Cabeludo , PeleRESUMO
Neurofibromatosis, like malignant melanoma, is believed to be a disorder of neural crest origin, but a definite association between these two diseases has not been established. We report a patient with malignant melanoma and with segmental neurofibromatosis. The malignant melanoma was not related to neurofibromas. Physical examination revealed no cafe-au-lait spots, axillary freckles, or Lish nodules. His family history was negative for neurofibromatosis or malignant melanoma.
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Humanos , Manchas Café com Leite , Melanoma , Melanose , Crista Neural , Neurofibroma , Neurofibromatoses , Exame FísicoRESUMO
Bilateral segmental neurofibromatosis is a rare disease characterized by bilateral neurofibromas, with or without pigmented lesion, or unilateral neurofibromas with contralateral pigmented lesion, limited to a body segment. Partial unilateral lentiginosis is characterized by numerous lentigines localized to a body segment, often corresponding to one or more dermatome. Bilateral segmental neurofibromatosis combined with partial unilateral lentiginosis is very rare, and to our knowledge, only 2 cases have been reported in English literature. We herein report another case of bilateral segmental neurofibromatosis with partial unilateral lentiginosis in a 46-year-old woman.
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Feminino , Humanos , Pessoa de Meia-Idade , Lentigo , Neurofibroma , Neurofibromatoses , Neurofibromatose 1 , Doenças RarasRESUMO
A 43-year-old woman presented with numerous cutaneous neurofibromas, limited to the left anterior chest(T2-3) and the right lower back(L1-2). These had been present for 10 years. Neither cafe-au-lait spot, intertriginous freckle, nor Lisch nodule was found. The family history was negative for neurofibromatosis. Biopsy specimens showed circumscribed, nonencapsulated neurofibromas. The present case was a rare form of bilateral segmental neurofibromatosis in that while most of the reported cases involved the same dermatome bilaterally, she had bilaterally different dermatomal neurofibromas.
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Adulto , Feminino , Humanos , Biópsia , Manchas Café com Leite , Melanose , Neurofibroma , NeurofibromatosesRESUMO
The term, bilateral segmental neurofibromatosis had been used to refer to patients who had unilateral neurofibromas with contralateral pigmented lesions or bilateral neurofibromas. Partial unilateral lentiginosis is characterized by numerous lentigines localized to a body segment. The coexistence of bilateral neurofibromas and partial unilateral lentiginosis raises the possibility that partial unilateral lentiginosis could be a variant of segmental neurofibromatosis. Nevus of Ota arise from dermal melanocytes and it can be associated with neurofibromatosis. A 60-year-old man presented with bilateral segmental neurofibromatosis with partial unilateral lentiginosis on the right arm and right leg, nevus of Ota on right forehead, and one cafe-au-lait spot on the abdomen.
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Humanos , Pessoa de Meia-Idade , Abdome , Braço , Manchas Café com Leite , Testa , Perna (Membro) , Lentigo , Melanócitos , Neurofibroma , Neurofibromatoses , Nevo de Ota , NevoRESUMO
Segmental neurofibromatosis(neurofibromatosis type V) is rare disorder characterized by limitation of cafe-au-lait spots and neurofibroma or only neurofibroma on a given unilateral segment of the body. We report a case of segmental neurofibromatosis that developed in a 58-year-old male. The skin lesion was situated on the right antecubital area and wrist in the distribution of dermatomes C5 and C6. Histopathologic examination showed well-demarcated, non-encapsulated tumor of the dermis was composed of thin wavy collagenous fibers and loosely spaced spindle cells with elongated wavy nuclei. The patient was treated with surgical excision and carbon dioxide laser.
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Humanos , Masculino , Pessoa de Meia-Idade , Manchas Café com Leite , Colágeno , Derme , Lasers de Gás , Neurofibroma , Neurofibromatoses , Pele , PunhoRESUMO
Segmental neurofibromatosis is rare disorder characterized by cafe-au-lait macules and neurofibromas, or only neurofibromas, limited to one region of the body. Typically the neurofibromas are unilateral and are occupied a single dermatome in most patients. We report a 62-year-old man with segmental neurofibromatosis on the right knee in the distribution of dermatomes L3 and L4.
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Humanos , Pessoa de Meia-Idade , Joelho , Neurofibroma , Neurofibromatoses , Neurofibromatose 1RESUMO
Neurofibromatosis(NF) is a heterogeneous disorder clinically characterized by the presence of neurofibromas, multiple caf au lait spots, intertriginous freckles and Lisch nodules. It is usually expressed as a generalized form, but is rarely localized in a limited part of the body as a segmental form. In 1982, Riccardi classified NF into 8 types and in a segmental NF(type V) the cutaneous lesions are limited to a single body segment, often in a unilateral, dermatomal disposition. We report a 45-year-old Korean woman who presented with several grouped soft, fresh red colored papules and nodules on the left side of the neck(left C2, C3 dermatomes). There were no caf -au-lait spots, axillary freckles, Lisch nodules or family history. A biopsy specimen of cutaneou nodules showed circumscribed non-encapsulated tumor of the dermis was composed of loosely spaced spindle cells with elongated, wavy nuclei and thin, wavy collagenous strands. On the basis of clinicopathologic examination we diagnosed as segmental NF.
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Feminino , Humanos , Pessoa de Meia-Idade , Biópsia , Colágeno , Derme , Melanose , NeurofibromatosesRESUMO
A 30-year-old woman had localized several cutaneous neurofibromas on the scalp in a dermatomal distribution(C2). Family history was negative, and evaluation for other signs such as cafe-au-lait spots, axillary frecklings, or Lisch nodules were not revealed. Biopsy specimen showed a well-circumscribed encapsulated tumor which consists of spindle cells with elongated, wavy nuclei and thin wavy collagenous strands loosely spaced in a clear matrix as seen in the neurofibroma. The diagnosis of bilateral segmental neurofibromatosis was made on the basis of the clinical features including the distribution of the neurofibromas and the absence of the family history and the histology consistent with a neurofibroma.
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Adulto , Feminino , Humanos , Biópsia , Manchas Café com Leite , Colágeno , Diagnóstico , Neurofibroma , Neurofibromatoses , Couro CabeludoRESUMO
Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait spots and neurofibrobmas, or only neurofibroma, limited to one region of the body. Disease-associated systemic involvement is uncommon. Most patients with segmental neurofibromatosis do not have a family history of neurofibromatosis. In Korea, there have been 3 reported cases of segmental neurofibromatosis. None of them had caf6-au-fait spots, systemic involvement, or family history. This report describes a case of segmental neurofibromatosis in a 25-year-old woman who had Becker's nevus-like cafe-au-lait spots and this was linked to the presence of Fanconi's syndrome in a second degree relative of the patient.
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Adulto , Feminino , Humanos , Manchas Café com Leite , Coreia (Geográfico) , Neurofibroma , Neurofibromatoses , Neurofibromatose 1RESUMO
Neurofibromatosis(NF) is a disorder characterized by its relative commonness, variability, and heterogeneity. It is usually expressed as a generalized form, but is rarely localized in a limited part of the body as a segmental form. In 1981, Riccardi classified NF into 8 types and a segmental form (type V) was defined by limitation of cafe-au-lait spots and/or neurofibroma on a given unilateral segment of the body. Recently we came across two cases of typical segmental neurofibromatosis. The First case was a 53-year-old woman with localized neurofibromatosis on the right T8,9 dermatome. The Second case was a 34-year-old man with localized neurofibromatosis on the right T5,6 dermatome. There were no cafe-au-lait spots, axillary frecklings, Lisch nodules or a family history in both cases. We report these rare cases with a literature review.