RESUMEN
Anti-epiligrin cicatricial pemphigoid is an autoimmune blistering disorder that has recently been associated with the development of solid organ malignancy. We describe a patient with recurrent metastatic prostate carcinoma who was diagnosed with this disorder. We provide a hypothesis as to the relationship between the development of this disease and its possible association with cancer pathogenesis.
Asunto(s)
Anticuerpos Antineoplásicos/inmunología , Autoanticuerpos/inmunología , Moléculas de Adhesión Celular/inmunología , Recurrencia Local de Neoplasia/inmunología , Síndromes Paraneoplásicos/inmunología , Penfigoide Benigno de la Membrana Mucosa/inmunología , Próstata/inmunología , Moléculas de Adhesión Celular/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Penfigoide Benigno de la Membrana Mucosa/patología , Próstata/patología , Neoplasias de la Próstata/complicaciones , Neoplasias de la Próstata/inmunología , KalininaRESUMEN
Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis with an increased susceptibility to specific human papillomavirus (HPV) genotypes. Classically, this viral infection leads to the development of tinea versicolor-like macules on the trunk, neck, arms, and face during childhood, and over time, these lesions can progress to squamous cell carcinoma. More recently, an EV-like syndrome has been described in patients with impaired cell-mediated immunity. We describe two cases of EV-like syndrome in HIV-positive patients, review all previously reported cases of EV in patients with impaired cell-mediated immunity, introduce the term "acquired epidermodysplasia verruciformis" to describe EV developing in the immunocompromised host and examine the limited treatment options for these patients.
Asunto(s)
Epidermodisplasia Verruciforme , Infecciones por VIH/complicaciones , Huésped Inmunocomprometido , Infecciones por Papillomavirus/complicaciones , Adulto , Terapia Antirretroviral Altamente Activa/efectos adversos , Biopsia , Epidermodisplasia Verruciforme/inmunología , Epidermodisplasia Verruciforme/patología , Epidermodisplasia Verruciforme/virología , Infecciones por VIH/tratamiento farmacológico , Humanos , MasculinoRESUMEN
Multiple cutaneous and uterine leiomyomata syndrome (MCL) is an autosomal dominant disease characterized by the presence of concurrent benign tumors of smooth muscle origin (leiomyoma) in the skin and uterus of affected females, and in the skin of affected males. MCL can also be associated with type II papillary renal cell cancer (HLRCC). The genetic locus for MCL and HLRCC was recently mapped to chromosome 1q42.3-43 and subsequently, dominantly inherited mutations in the fumarate hydratase gene ( FH ) were identified. Importantly, analysis of the FH gene in tumors of MCL patients revealed a second mutation inactivating the wild-type allele in some tumors. Based on these findings, it has been suggested that FH may function as a tumor suppressor gene in MCL. Here, we report the analysis of the FH gene in a group of 11 MCL families, with the identification of 8 different mutations accounting for the disease in all families. One of the mutations, 905-1G>A, has been identified in 4 families of Iranian origin. The analysis of highly polymorphic markers in the vicinity of the FH gene showed a shared haplotype in these 4 families, suggesting that 905-1G>A represents a founder mutation. Collectively, identification of 5 novel and 3 recurrent mutations further supports the role of FH in the pathogenesis of MCL.
Asunto(s)
Fumarato Hidratasa/genética , Leiomioma/genética , Mutación , Neoplasias Cutáneas/genética , Neoplasias Uterinas/genética , Femenino , Efecto Fundador , Haplotipos , Humanos , Masculino , LinajeRESUMEN
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine leiomyoma syndrome (MCL) and MCL associated with renal cell cancer. MCL is inherited in an autosomal dominant pattern, manifesting as skin leiomyoma and uterine fibroids in affected individuals. Fumarate hydratase, a component of the tricarboxylic acid cycle, acts as a tumor suppressor gene in the development of cutaneous and uterine leiomyoma and renal cell cancer in this syndrome. Here we report the clinical and mutational analysis of five families with MCL, with the identification of five new mutations affecting highly conserved residues of the FH protein. These results provide further evidence for the role of the FH gene in the pathogenesis of MCL.
Asunto(s)
Fumarato Hidratasa/genética , Mutación de Línea Germinal , Leiomioma/genética , Neoplasias Cutáneas/genética , Neoplasias Uterinas/genética , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Masculino , LinajeAsunto(s)
Granuloma/inducido químicamente , Granuloma/tratamiento farmacológico , Inmunoglobulina G/uso terapéutico , Receptores del Factor de Necrosis Tumoral/uso terapéutico , Siliconas/efectos adversos , Enfermedades de la Piel/inducido químicamente , Enfermedades de la Piel/tratamiento farmacológico , Adulto , Nalgas , Técnicas Cosméticas/efectos adversos , Etanercept , Femenino , Granuloma/patología , Humanos , Inyecciones , Pierna , Persona de Mediana Edad , Siliconas/administración & dosificación , Siliconas/farmacología , Enfermedades de la Piel/patología , Resultado del TratamientoRESUMEN
Familial leiomyomatosis cutis et uteri may present with numerous cutaneous leiomyomas, or piloleiomyomas, which can be painful. Pharmacologic agents have had limited efficacy in mitigating leiomyoma-associated discomfort. We describe a case of familial piloleiomyomas in which intermittent pain at the site of the lesions was substantially reduced by the administration of oral gabapentin. The unusual unilateral distribution of leiomyomas in this case is discussed.