RESUMO
BACKGROUND AND OBJECTIVE: Basal cell carcinoma (BCC) is the most common skin cancer in the general population. BCC is managed in a variety of ways, and available international guidelines are difficult to put into practice in Spain. This guideline aims to improve the management of BCC based on current evidence and provide a point of reference for Spanish dermatologists. MATERIAL AND METHODS: Members of the Spanish Oncologic Dermatology and Surgery Group (GEDOC) with experience treating BCC were invited to participate in drafting this guideline. The drafters used the ADAPTE collaboration process to develop the new guideline based on existing ones, first summarizing the care pathway and posing relevant clinical questions. They then searched for guidelines, assessed them with the AGREEII (Appraisal of Guidelines for Research and Evaluation) tool, and searched the selected guidelines for answers to the clinical questions. Finally, the recommendations were drafted and submitted for external review. RESULTS: The highest-scoring guidelines were from the Association of Dermatologists, the National Comprehensive Cancer Network, the European Dermatology Forum, and the European Academy of Dermatology and Venereology. A total of 11 clinical questions were answered. CONCLUSIONS: This new guideline answers the working group's clinical questions about the routine management of BCC in Spain. It provides dermatologists with a tool they can use for decision-making while taking into consideration the resources available and patient preferences.
Assuntos
Carcinoma Basocelular , Dermatologia , Neoplasias Cutâneas , Carcinoma Basocelular/diagnóstico , Humanos , Neoplasias Cutâneas/diagnóstico , EspanhaRESUMO
Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance.
Assuntos
Síndrome do Nevo Basocelular , Neoplasias Cutâneas , Síndrome do Nevo Basocelular/diagnóstico , Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/terapia , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapiaRESUMO
BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway. OBJECTIVES: We aimed to characterize 22 unrelated Spanish patients with NBCCS, the largest cohort with Gorlin syndrome reported to date in Spain. METHODS: Genomic analysis of PTCH1 was performed in patients with NBCCS and controls, and mutations were analysed using bioinformatics tools. RESULTS: We report for the first time two young patients, one each with uterus didelphys and ganglioneuroma, within the context of NBCCS. One patient showing a severe phenotype of the disease had developed basal cell carcinomas since childhood. Sanger sequencing of PTCH1 in this cohort identified 17 novel truncating mutations (11 frameshift, five nonsense and one mutation affecting an exon-intron splice site) and two novel missense mutations that were predicted to be pathogenic. The patients showed great clinical variability and inconsistent genotype-phenotype correlation, as seen in relatives carrying similar mutations. CONCLUSIONS: This study contributes to increase the pool of clinical manifestations of NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying factors, genetic, epigenetic or environmental.
Assuntos
Síndrome do Nevo Basocelular/genética , Mutação/genética , Receptor Patched-1/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Síndrome do Nevo Basocelular/epidemiologia , Síndrome do Nevo Basocelular/patologia , Criança , Predisposição Genética para Doença/genética , Genótipo , Humanos , Pessoa de Meia-Idade , Fenótipo , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Espanha/epidemiologia , Adulto JovemAssuntos
Anti-Inflamatórios não Esteroides/uso terapêutico , Doença de Darier/tratamento farmacológico , Diclofenaco/uso terapêutico , Administração Cutânea , Adulto , Anti-Inflamatórios não Esteroides/administração & dosagem , Diclofenaco/administração & dosagem , Feminino , Humanos , Resultado do TratamentoRESUMO
BACKGROUND: Treatment of nail psoriasis remains a challenging and often disappointing situation. OBJECTIVE: To compare the efficacy, adverse reactions and tolerability of treatment of nail psoriasis with PDL vs. Nd:YAG, in association with betametasona calcipotriol gel. METHODS: An open, prospective intrapatient left-to-right study was designed. The right hand of each patient received treatment with PDL and the left hand with Nd:YAG. Betamethasone calcipotriol gel was applied once a day during the first week after each laser session. A total of four sessions were administered. RESULTS: The clinical efficacy was evaluated according to the NAPSI score. All patients showed improvement in nail bed and nail matrix psoriasis. The global NAPSI mean declined in 15.46 (p<0.000). There was neither statistical difference between the reduction in nail bed and matrix NAPSI nor in the treatment with PDL vs. Nd:YAG. The administration of Nd:YAG was more painful. No serious adverse effects were documented. LIMITATIONS: No random assignment and the small number of patients. CONCLUSIONS: PDL and Nd:YAG have proven to be an effective treatment for nail psoriasis with no serious adverse effect. No statistically significant difference was found between the two treatments.
Assuntos
Betametasona/uso terapêutico , Calcitriol/análogos & derivados , Lasers de Corante , Terapia com Luz de Baixa Intensidade , Doenças da Unha/terapia , Psoríase/terapia , Adulto , Idoso , Betametasona/administração & dosagem , Calcitriol/administração & dosagem , Calcitriol/uso terapêutico , Terapia Combinada , Combinação de Medicamentos , Feminino , Géis , Humanos , Lasers de Estado Sólido , Masculino , Pessoa de Meia-Idade , Doenças da Unha/tratamento farmacológico , Doenças da Unha/radioterapia , Estudos Prospectivos , Psoríase/tratamento farmacológico , Psoríase/radioterapia , Resultado do TratamentoRESUMO
Cutaneous graft-versus-host disease (GVHD) is a frequent complication of allogeneic bone marrow transplant and haematopoietic cell transplantation, but it is rarely presented as a Wolf's isotopic response. We report a patient who developed chronic lichenoid GVHD following the dermatomes previously affected by varicella zoster virus (VZV) infection. Nineteen months later, the same patient suffered from reactivation of GVHD at the injection site of an influenza vaccination. We review the literature concerning GVHD appearing after VZV infection and discuss the possible implications of this case and the pathogenic hypotheses.
Assuntos
Doença Enxerto-Hospedeiro/etiologia , Herpes Zoster/complicações , Vacinas contra Influenza/efeitos adversos , Erupções Liquenoides/etiologia , Transplante de Medula Óssea/efeitos adversos , Doença Crônica , Feminino , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/terapia , Recidiva , Transplante HomólogoRESUMO
We present an unreported coexistence: eczema herpeticum (EH) with histopathological findings of herpetic folliculitis (HF) after allogeneic bone marrow transplantation (BMT). A patient with atopic dermatitis (AD) underwent allogeneic BMT for idiopathic acquired aplastic anemia. She had been receiving cyclosporine (150 mg/12 h) and acyclovir (400 mg/12 h) for 6 months. A facial rash was observed, composed of monotonous erythematous, umbilicated papulo-vesicles and papulo-crusts <4 mm in size. The histopathological study showed herpetic cytopathic changes within the epidermis that extended into the hair follicle epithelium. Interestingly, microscopic HF has not previously been associated with post-transplant patients or EH. However, it is reasonable to hypothesize that the coexistence of these herpes simplex virus-related events may be underreported in the literature. Although further studies are necessary, we suggest that the prophylactic antiviral dose after BMT be enhanced in patients with underlying dermatologic diseases, especially in those with AD.