Subject(s)
Amyloidosis/pathology , Skin Diseases/pathology , Aged , Amyloidosis/surgery , Humans , Male , Skin Diseases/surgeryABSTRACT
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.
Subject(s)
Dermatomyositis/complications , Paraneoplastic Syndromes/complications , Plasmacytoma/complications , Tongue Neoplasms/complications , Autoantibodies/blood , Dermatomyositis/immunology , Dermatomyositis/pathology , Female , Humans , Middle Aged , Paraneoplastic Syndromes/immunology , Paraneoplastic Syndromes/pathology , Plasmacytoma/immunology , Plasmacytoma/pathology , Tongue Neoplasms/immunology , Tongue Neoplasms/pathologyABSTRACT
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.
Subject(s)
Connexins/genetics , Deafness/genetics , Ichthyosis/genetics , Keratitis/genetics , Mutation , Antineoplastic Agents/therapeutic use , Connexin 26 , Dapsone/therapeutic use , Deafness/drug therapy , Deafness/pathology , Dermatologic Agents/therapeutic use , Drug Therapy, Combination , Female , Humans , Ichthyosis/drug therapy , Ichthyosis/pathology , Keratitis/drug therapy , Keratitis/pathology , Minocycline/therapeutic use , Mouth Mucosa/drug effects , Mouth Mucosa/pathology , Nevus/drug therapy , Nevus/genetics , Nevus/pathology , Skin Diseases, Bacterial/drug therapy , Skin Diseases, Bacterial/genetics , Skin Diseases, Bacterial/pathology , Skin Neoplasms/drug therapy , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Spironolactone/therapeutic use , Treatment Outcome , Young AdultABSTRACT
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.
