RESUMEN
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.
Asunto(s)
Acantólisis , Liquen Escleroso Vulvar , Acantólisis/diagnóstico , Acantólisis/metabolismo , Acantólisis/patología , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Liquen Escleroso Vulvar/diagnóstico , Liquen Escleroso Vulvar/metabolismo , Liquen Escleroso Vulvar/patologíaAsunto(s)
Fosfatidilinositol 3-Quinasa Clase I/antagonistas & inhibidores , Psoriasis/tratamiento farmacológico , Piridinas/farmacología , Quinolinas/farmacología , Transducción de Señal/efectos de los fármacos , Linfocitos T/inmunología , Adulto , Anciano , Biopsia , Células Cultivadas , Fosfatidilinositol 3-Quinasa Clase I/metabolismo , Femenino , Humanos , Leucocitos Mononucleares , Masculino , Persona de Mediana Edad , Cultivo Primario de Células , Psoriasis/sangre , Psoriasis/inmunología , Psoriasis/patología , Piridinas/uso terapéutico , Quinolinas/uso terapéutico , Transducción de Señal/inmunología , Piel/citología , Piel/inmunología , Piel/patología , Linfocitos T/efectos de los fármacos , Linfocitos T/metabolismoAsunto(s)
Linfocitos T CD8-positivos/inmunología , Proliferación Celular/efectos de los fármacos , Ciclopropanos/inmunología , Ciclopropanos/farmacología , Dermatitis Alérgica por Contacto/sangre , Técnicas In Vitro/métodos , Linfocitos T CD4-Positivos/inmunología , Humanos , Inmunidad Celular/efectos de los fármacos , Proyectos PilotoRESUMEN
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.
