RESUMO
We present a challenging case of chronic, erosive, scarring dermatosis of the vulva with clinical features of long standing lichen sclerosus (LS), namely pallor and loss of vulval architecture, but with histopathology consistently showing features of an acantholytic process. The history and clinical features of this case do not resemble other acantholytic conditions such as pemphigus vulgaris, Hailey-Hailey disease, Darier disease, or the entities described as acantholytic dermatoses affecting the vulva. As far as we are aware, the combination of the clinical features and histopathologic findings in our case do not fit with any previously described condition and we propose that this is a rare entity of a collision of LS and an erosive acantholytic process occurring together.
Assuntos
Acantólise , Líquen Escleroso Vulvar , Acantólise/diagnóstico , Acantólise/metabolismo , Acantólise/patologia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Líquen Escleroso Vulvar/diagnóstico , Líquen Escleroso Vulvar/metabolismo , Líquen Escleroso Vulvar/patologiaAssuntos
Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Psoríase/tratamento farmacológico , Piridinas/farmacologia , Quinolinas/farmacologia , Transdução de Sinais/efeitos dos fármacos , Linfócitos T/imunologia , Adulto , Idoso , Biópsia , Células Cultivadas , Classe I de Fosfatidilinositol 3-Quinases/metabolismo , Feminino , Humanos , Leucócitos Mononucleares , Masculino , Pessoa de Meia-Idade , Cultura Primária de Células , Psoríase/sangue , Psoríase/imunologia , Psoríase/patologia , Piridinas/uso terapêutico , Quinolinas/uso terapêutico , Transdução de Sinais/imunologia , Pele/citologia , Pele/imunologia , Pele/patologia , Linfócitos T/efeitos dos fármacos , Linfócitos T/metabolismoAssuntos
Linfócitos T CD8-Positivos/imunologia , Proliferação de Células/efeitos dos fármacos , Ciclopropanos/imunologia , Ciclopropanos/farmacologia , Dermatite Alérgica de Contato/sangue , Técnicas In Vitro/métodos , Linfócitos T CD4-Positivos/imunologia , Humanos , Imunidade Celular/efeitos dos fármacos , Projetos PilotoRESUMO
The melanocortin 1 receptor (MC1R) gene encodes for a seven-pass transmembrane receptor primarily expressed on melanocytes and melanoma cells. Single nucleotide polymorphisms (SNPs, also termed variants) in MC1R frequently cause red hair, fair skin and are associated with melanoma and keratinocyte-derived skin cancer development. Activation of wild-type (WT) MC1R in skin assists cutaneous photoprotection whereas reduced MC1R signalling, seen with MC1R variants, impairs ultraviolet radiation (UVR)-protective responses. As ancestral humans migrated out of Africa, the evolutionary advantage of MC1R variants may have related to improved cutaneous vitamin D synthesis and higher birthweight reported with certain MC1R variants. Reduced photoprotection secondary to MC1R dysfunction involves pigmentary and non-pigmentary mechanisms (reduced DNA repair, effects on cell proliferation and possibly immunological parameters), leading to clonal expansion of mutated cells within skin and subsequent carcinogenesis. Recent investigations suggest an association between MC1R genotype and vitiligo, with preliminary evidence that a MC1R agonist, [Nle4-D-Phe7]-alpha-MSH, in combination with UVB, assists repigmentation. Future development of compounds to correct defective MC1R responses secondary to MC1R variants could result in photoprotective benefits for fair-skinned individuals and reduce their skin cancer risk.
