RESUMO
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia, characterized mainly by the presence of hyperkeratotic skin lesions, neurosensory hearing loss, and vascularizing keratitis. Most mutations that have been discovered as a cause of KID syndrome are autosomal dominant, found in exon 2 of the Connexin (Cx) 26 gene. A G12R (p.Gly12Arg) is a GJB2 mutation reported in only two patients with KID syndrome to date. This article describes a patient with the G12R mutation and KID syndrome with interesting additional features, which include a porokeratotic eccrine ostial and dermal duct nevus, follicular occlusion triad, and unusual persistent oral mucosal papules. We compare this patient's phenotype with the only two other patients described with the same (G12R) mutation. The phenotypic heterogeneity of KID syndrome, inexplicable according to our current understanding of these proteins, speaks to the complexity of the connexin system and its overlapping expression patterns in different tissues.
Assuntos
Conexinas/genética , Surdez/genética , Ictiose/genética , Ceratite/genética , Mutação , Antineoplásicos/uso terapêutico , Conexina 26 , Dapsona/uso terapêutico , Surdez/tratamento farmacológico , Surdez/patologia , Fármacos Dermatológicos/uso terapêutico , Quimioterapia Combinada , Feminino , Humanos , Ictiose/tratamento farmacológico , Ictiose/patologia , Ceratite/tratamento farmacológico , Ceratite/patologia , Minociclina/uso terapêutico , Mucosa Bucal/efeitos dos fármacos , Mucosa Bucal/patologia , Nevo/tratamento farmacológico , Nevo/genética , Nevo/patologia , Dermatopatias Bacterianas/tratamento farmacológico , Dermatopatias Bacterianas/genética , Dermatopatias Bacterianas/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Espironolactona/uso terapêutico , Resultado do Tratamento , Adulto JovemAssuntos
Amiloidose/patologia , Dermatopatias/patologia , Idoso , Amiloidose/cirurgia , Humanos , Masculino , Dermatopatias/cirurgiaRESUMO
Lichen planopilaris is a scarring alopecia resulting from a lymphocytic inflammatory process of unknown etiology. We report a case of a 46-year-old man, who presented with an asymptomatic papular eruption over the face. Histologic examination was consistent with lichen planopilaris. This case is unusual because the disease affects the facial vellus hair only, without scalp involvement or other features of lichen planopilaris and its variants.
Assuntos
Dermatomiosite/complicações , Síndromes Paraneoplásicas/complicações , Plasmocitoma/complicações , Neoplasias da Língua/complicações , Autoanticorpos/sangue , Dermatomiosite/imunologia , Dermatomiosite/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Síndromes Paraneoplásicas/imunologia , Síndromes Paraneoplásicas/patologia , Plasmocitoma/imunologia , Plasmocitoma/patologia , Neoplasias da Língua/imunologia , Neoplasias da Língua/patologiaRESUMO
Increasing data suggest that glutamate might act as a cell-signaling molecule in non-neuronal tissues such as the skin. Here we demonstrate the presence of functional N-methyl-D-aspartate (NMDA)-type glutamate receptors in human keratinocytes. NMDA receptor expression strongly reflects the degree of cell-to-cell contact. Wounding polarizes the expression of NMDA receptors in keratinocytes involved in re-epithelialization, and the process of re-epithelialization is inhibited by NMDA receptor activation. We also demonstrate that squamous cell carcinomas lack NMDA receptors. Our data suggest that Ca2+ entry through NMDA receptors influences the cycle of keratinocyte proliferation, differentiation, and migration during epithelialization. Moreover, NMDA receptor activation might play a role in contact-mediated inhibition of growth, a process that is absent during neoplastic pathology. This receptor may serve as a pharmacological target for modulating keratinocyte behavior and treating cutaneous disorders.