ABSTRACT
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.
Subject(s)
Humans , Male , Child, Preschool , Neurofibromatosis 1/complications , Moyamoya Disease/complications , Tomography, X-Ray Computed , Neurofibromatosis 1/pathology , Neurofibromatosis 1/diagnostic imaging , Magnetic Resonance Angiography , Cafe-au-Lait Spots/pathology , Moyamoya Disease/pathology , Moyamoya Disease/diagnostic imagingABSTRACT
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.
Subject(s)
Moyamoya Disease/complications , Neurofibromatosis 1/complications , Cafe-au-Lait Spots/pathology , Child, Preschool , Humans , Magnetic Resonance Angiography , Male , Moyamoya Disease/diagnostic imaging , Moyamoya Disease/pathology , Neurofibromatosis 1/diagnostic imaging , Neurofibromatosis 1/pathology , Tomography, X-Ray ComputedABSTRACT
Trichoscopy has become an essential tool for the diagnosis of various diseases that affect the hair and scalp. Through dermatoscopy we identified a set of findings that share a circular shape of hair shafts. The objective of this study is to distinguish among the various forms of circular hairs in order to identify their peculiarities and to describe in which skin disorders they can be found.
Subject(s)
Dermoscopy/methods , Hair Diseases/diagnostic imaging , Hair/diagnostic imaging , Scalp/diagnostic imaging , Diagnosis, Differential , Hair/pathology , Hair Diseases/pathology , Humans , Reproducibility of Results , Scalp/pathology , Scalp Dermatoses/diagnostic imaging , Scalp Dermatoses/pathologyABSTRACT
O eritema pigmentar fixo geralmente representa uma reação cutânea adversa a medicamentos caracterizada pelo surgimento de lesões eritematosas arredondadas ou ovais que recorrem no mesmo sítio em minutos a horas após uma nova exposição ao medicamento previamente utilizado. As lesões podem ser únicas ou múltiplas e esmaecem em poucos dias deixando pigmentação hipercrômica residual, sendo os anti-inflamatórios e antibióticos, frequentes causadores. Já o herpes labial é causado principalmente pelo HSV1 e se manifesta com vesículas agrupadas sobre base eritematosa com posterior evolução para crostas e pode ser desencadeado por estresse, trauma etc. O objetivo do presente trabalho é demonstrar um caso de eritema pigmentar fixo simulando herpes labial, relacionado ao uso de fluconazol, visto que existem relativamente poucos relatos desta associação na literatura médica...
Subject(s)
Humans , Female , Middle Aged , Erythema/diagnosis , Erythema/ethnology , Erythema/pathology , Erythema/prevention & control , Fluconazole , Herpes LabialisABSTRACT
Generalized eruptive histiocytoma is considered an extremely rare subtype of non-Langerhans cells histiocytosis. In the literature, there are few reports of this disease that mainly affects adults. In this report, we present a case of generalized eruptive histiocytoma in an elderly patient who had presented symptoms for over two months. Multiple erythematous papules, asymptomatic and symmetrically distributed were observed on the trunk and limbs. Histological examination showed a dense mononuclear cell dermal infiltrate. In the immunohistochemical analysis, the cells were CD68 positive, but CD1a, S100 and CD34 negative. A diagnosis of generalized eruptive histiocytoma was established. The aim of our paper is to report a case of a very rare disease, whose subtype and affected age group are even more unusual.
