RESUMEN
McCune-Albright syndrome, which consists of cafe-au lait spots, multiple fibrous dysplasia, sexual precocity and endocrinal dysfunction such as pituitary, thyroid and adrenal aberrations, has been increasingly recognized recently. The etiology is now suggested that activating mutations on the gene that encodes the alpha subunit of stimulatory G protein cause McCune-Albright syndrome. The child presented with sexual precocity and elevated estrogen level was still persisted after left oophorectomy and right partial oophorectomy due to misdiagnosed as ovarian granulosa-theca cell tumor. Whole body bone scan revealed abnormal radiotracer uptake on left facial bone and left proximal femur. Facial bone MRI showed marked thickening of facial bone from fibrous dysplasia. And the patient had cafe-au-lait pigmentations on neck and buttock area. Other endocrine function was normal. Pathologic finding of ovary was finally confirmed with cystic follicles. Skull biopsy revealed fibrous dysplasia. And she was finally diagnosed McCune-Albright syndrome.
Asunto(s)
Niño , Femenino , Humanos , Biopsia , Nalgas , Manchas Café con Leche , Estrógenos , Huesos Faciales , Fémur , Displasia Fibrosa Poliostótica , Proteínas de Unión al GTP , Imagen por Resonancia Magnética , Cuello , Ovariectomía , Ovario , Pigmentación , Cráneo , Glándula TiroidesRESUMEN
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.
Asunto(s)
Adulto , Femenino , Humanos , Manchas Café con Leche , Corea (Geográfico) , Neurofibroma , Neurofibromatosis , Neurofibromatosis 1RESUMEN
We observed 17 cases of cafe au lait spots histopathplogi ally. Out of 17 cases, 9 cases were neurofibromatosis with neurofibromas, 6 cases were neurofibromatosis without neurofibroma, and 2 cases were normal healthy persons. The results were as follows. l. In all 17 cases, melanin pigment was increased in melanocytes and keratinocytes. 2. Griant pigment granules were identified only in 3 cases of neurofibromatosis with neurofibromas.