RESUMEN
CD30+ anaplastic large cell lymphoma is a primary cutaneous lymphoproliferative disorder with a high rate of spontaneous regression (almost 25%). The suggested therapies are radiation, surgery and methotrexate. We describe two patients with nonregressing primary cutaneous CD30+ T-cell lymphoma that was successfully treated with topical imiquimod 5% cream (Aldara, 3M) three times weekly for 6 weeks. In both cases we obtained complete clinical remission, confirmed by histology. No recurrences were observed during the following 8 months. We consider that topical application of an immune response modifier, such as imiquimod, could be a good alternative to other potentially more dangerous or aggressive treatments.
Asunto(s)
Aminoquinolinas/administración & dosificación , Antineoplásicos/administración & dosificación , Linfoma Cutáneo de Células T/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Administración Tópica , Adulto , Aminoquinolinas/uso terapéutico , Antineoplásicos/uso terapéutico , Citocinas/inmunología , Estudios de Seguimiento , Humanos , Imiquimod , Interferón gamma/inmunología , Antígeno Ki-1/análisis , Linfoma Cutáneo de Células T/inmunología , Masculino , Persona de Mediana EdadRESUMEN
Thirteen patients with pachyonychia congenita types 1 and 2 were studied, two of which had a family history of pachyonychia and 11 of which were sporadic cases. Heterozygous mis-sense or small in-frame insertion/deletion mutations were detected in the genes encoding keratins K6a, K16, and K17 in all cases. Three novel mutations, F174V, E472K, and L469R were found in the K6a gene. Two novel mutations, M121T and L128Q were detected in K16. Similarly, three novel mutations, L95P, S97del, and L99P were found in K17. In addition, we identified recurrent mutations N171del (three instances) and F174S in K6a and R94H in K17. Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype. This study establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessary DNA analysis in the diagnosis and management of this genetically heterogeneous group of genodermatoses.
Asunto(s)
Displasia Ectodérmica/genética , Eliminación de Gen , Queratinas/genética , Queratodermia Palmoplantar/genética , Mutación Missense , Análisis Mutacional de ADN , Cartilla de ADN , Genotipo , Humanos , Enfermedades de la Uña/genética , Fenotipo , Mapeo RestrictivoRESUMEN
Molecular analysis of p53 and patched (PTCH), two candidate tumor suppressor genes for non-melanocytic skin cancer, was performed in skin tumors from six patients affected by the cancer-prone disease xeroderma pigmentosum (XP). UV-specific p53 mutations were detected at a frequency of 38-50% in all the tumor types analysed, including melanomas. Additional analysis of PTCH mutations in the subset of eight basal call carcinomas (BCC) revealed a very high mutation frequency of this gene (90%) which exceeded that detected in the p53 gene in the same tumors (38%). PTCH mutations were predominantly UV-specific C>T transitions. This mutation pattern is different from that reported in BCC from normal donors where PTCH mutation frequency is 27% and mutations are frequently deletions and insertions. These findings suggest that PTCH mutations represent an earlier event in BCC development than p53 alterations and that the inability of XP patients to repair UV-induced PTCH mutations might significantly contribute to the early and frequent appearance of BCC observed in these patients.
Asunto(s)
Genes Supresores de Tumor/fisiología , Genes p53/fisiología , Proteínas de la Membrana/genética , Mutación , Neoplasias Cutáneas/genética , Rayos Ultravioleta , Xerodermia Pigmentosa/genética , Adulto , Anciano , Carcinoma Basocelular/genética , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Receptores Patched , Receptor Patched-1 , Receptores de Superficie CelularRESUMEN
Ehlers-Danlos syndrome comprises a very heterogeneous group of collagen diseases characterised in clinical terms by fragility and cutaneous hyperextensability, ligamentous hyperlaxity, ecchymosis, scarring, visceral and neurological manifestations. Having been described in detail by Ehlers in 1899 and Danlos in 1908, it was subsequently classified into various clinical types. At present at least 11 forms are recognised on the basis of their clinical characteristics, methods of transmission and biochemical defect; the first four types of the syndrome account for approximately 95% of cases. Almost all forms are transmitted with a dominant autosomic character. Specific genetic mutations have been ascertained whereas the biochemical defect has been identified in numerous types. Ehlers-Danlos type 1 syndrome is the most frequent and most severe form. The biochemical anomaly underlying the altered deposition of collagen fibre is still unknown and this is responsible for the "storiform" appearance of collagen fibre on ultrastructural examination. The authors have described a typical case of "Ehlers-Danlos type 1 syndrome" in which the diagnosis was confirmed by comparing clinical data and the results of ultrastructural tests which revealed the characteristic "pattern" of collagen fibres.
Asunto(s)
Síndrome de Ehlers-Danlos/patología , Adolescente , Colágeno/ultraestructura , Síndrome de Ehlers-Danlos/clasificación , Síndrome de Ehlers-Danlos/genética , Femenino , Humanos , Mutación PuntualRESUMEN
The effect of slow (600 micrograms) and rapid (200 micrograms) infusion of TRH on acid gastric secretion was studied in a group of healthy volunteers and a group of patients treated by truncal vagotomy. It was shown that the slow (600 micrograms) TRH infusion does not act on gastric secretion in both groups, while the rapid (200 micrograms) TRH infusion appears to significantly decrease the parameters under study during the first 15 minutes of gastric juice collection.