RESUMO
El Tricoepitelioma Múltiple Familiar (TMF) constituye una rara enfermedad autosómica dominante, se caracteriza por la aparición de múltiples pápulas color piel, monomorfas, simétricas, ubicadas en la región central de la cara. El diagnóstico es histopatológico, donde se encuentran tricoepiteliomas, los cuales son neoplasias anexiales benignas que se originan en los folículos pilosos. La condición es de comportamiento indolente, pero con una importante repercusión estética y de difícil manejo. Al ser esta una entidad poco frecuente, el objetivo de este artículo es actualizar los aspectos más relevantes de esta enfermedad. Se presenta el caso de una paciente de 23 años con lesiones faciales típicas en quien se confirmó el diagnostico de TMF
Familial Multiple Trichoepithelioma (FMT) is a rare autosomal dominant disease, characte-rized by the appearance of multiple papules of skin color, monomorphic, symmetrical and located in the central region of the face. The diagnosis is based on histopathological features of trichoepitheliomas, which are benign adnexal neoplasms that originate in the hair follicles. The condition has an indolent behavior but it has an important aesthetic repercussion and it's difficult to treat. As this is a rare entity, the objective of this article is to update the most relevant aspects of this disease. We present the case of a 23 year old patient with typical facial lesions in whom the diagnosis of FMT was confirmed.
Assuntos
Humanos , Feminino , Adulto Jovem , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Faciais/genética , Neoplasias Faciais/patologiaRESUMO
AIM: Tuberous sclerosis is a neurocutaneous syndrome characterized by affect multiple organs such as brain, kidneys, heart, eyes, lungs and skin. The aim of this study was to analyze the pattern of immunolocalization of markers MMP-1, MMP-10, TIMP-1, α-SMA and TGF-ß1 in oral and facial angiofibromas in individuals affected by tuberous sclerosis. METHODS: Microscopical analyses on hematoxilin-eosin and immunohistochemistry reactions were performed to analyze the previously cited biological markers pattern in orofacial angiofibromas. RESULTS: Reactivity was observed for MMP-1, MMP-10 and TGF-ß1, in addition to negative for TIMP-1 and α-SMA, except perivascular and epithelial staining for this. Concerning the intensity, a strong marking for MMP-1 in the basal layer of the epithelium, and a slight positivity in the suprabasal layers predominated. MMP-10 was slightly expressed in all epithelial layers. The connective tissue showed slight to moderate reactivity for MMP-1 and MMP-10. TIMP-1 demonstrated slight to moderate marking in the various layers of a single lesion and to TGF-ß1 expression showed varied in intensity staining both between lesions and between tissue layers. CONCLUSION: MMP-1, MMP-10 and TGF-ß1 exhibited reactivity in oral and cutaneous angiofibromas with heterogeneous distribution patterns among both tissue elements analyzed in the intensity of marking the same among the specimens. TIMP-1 showed reactivity predominantly negative in the specimens analyzed and α-SMA presented restricted to epithelial and perivascular regions of these lesions.
Assuntos
Actinas/análise , Angiofibroma/química , Biomarcadores Tumorais/análise , Neoplasias Faciais/química , Metaloproteinase 10 da Matriz/análise , Metaloproteinase 1 da Matriz/análise , Neoplasias Bucais/química , Proteínas de Neoplasias/análise , Neoplasias Primárias Múltiplas/química , Inibidor Tecidual de Metaloproteinase-1/análise , Fator de Crescimento Transformador beta1/análise , Esclerose Tuberosa/metabolismo , Adolescente , Adulto , Idoso , Angiofibroma/genética , Criança , Células Epiteliais/química , Células Epiteliais/ultraestrutura , Neoplasias Faciais/genética , Feminino , Fibroblastos/química , Fibroblastos/ultraestrutura , Neoplasias Gengivais/química , Neoplasias Gengivais/genética , Humanos , Técnicas Imunoenzimáticas , Neoplasias Labiais/química , Neoplasias Labiais/genética , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/genética , Neoplasias Primárias Múltiplas/genética , Pericitos/química , Pericitos/ultraestrutura , Neoplasias Cutâneas/química , Neoplasias Cutâneas/genéticaRESUMO
A mother and a daughter affected with multiple trichoepithelioma were studied. The age of onset of the symptomatology in both was 7-years-old, the daughter being more severely affected than the mother at this age. This early age of onset is an exceptional observation which could be explained by maternal imprinting.