Lower limb cutaneous melanoma surgery: location matters.

The anatomical location of cutaneous melanoma is a relevant independent prognostic factor in melanoma. The aim of the study is to know the prognosis of lower limb cutaneous melanoma related to their location within the limb, regardless of the histological type, and if there are any other influencing variables. A real-world data observational study was developed. The lesions were divided depending on the location of the melanoma (thigh, leg and foot). Bivariate and multivariate analysis were performed, and melanoma-specific survival and disease-free survival rates were calculated. When these analysis were done, the results showed that, in melanomas of the lower limb, location on the foot presented a lower melanoma-specific survival rate compared to more proximal locations, and only the anatomical location presents statistical significance to discriminate cases with a higher mortality risk and a lower disease-free survival rate among distal melanomas (mainly on the foot). In conclusion, this study confirms that a more distal location of lower limb cutaneous melanoma is a relevant prognostic factor.Trial registration number NCT04625491 retrospectively registered.

Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.

We aimed to determine if an adolescent patient presenting with neurological impairment has xeroderma pigmentosum (XP). For this purpose, whole-exome sequencing was performed to assess mutations in XP genes. Dermal fibroblasts were established from a skin biopsy and XPA expression determined by immunoblotting. Nucleotide excision repair (NER) capacity was measured by detection of unscheduled DNA synthesis (UDS) in UVC-irradiated patient fibroblasts. Genetic analysis revealed two recessive mutations in XPA, one known c.682C>T, p.Arg228Ter, and the other c.553C>T, p.Gln185Ter, only two cases were reported. XPA protein was virtually undetectable in lysates from patient-derived fibroblast. The patient had significantly lower UV-induced UDS (3.03 ± 1.95%, p < 0.0001) compared with healthy controls (C5RO = 100 ± 12.2; C1UMN = 118 ± 5.87), indicating significant NER impairment. In conclusion, measurement of NER capacity is beneficial for the diagnosis of XP and in understanding the functional impact of novel mutations in XP genes. Our findings highlight the importance of neurologists considering XP in their differential diagnosis when evaluating patients with atypical neurodegeneration.

Efficacy and safety of clinical use of etanercept for the treatment of moderate-to-severe psoriasis in Spain: results of a multicentric prospective study at 12 months follow-up.

BACKGROUND: The efficacy of etanercept in the treatment of psoriasis has been demonstrated in several clinical trials, but information regarding results derived from prospective observational studies in clinical practice is scarce. OBJECTIVES: To evaluate the efficacy and safety of etanercept administration according to routine clinical use in moderate-to-severe plaque psoriasis. MATERIALS AND METHODS: Postauthorization, prospective study, carried out at 59 dermatology units in Spain. Patients diagnosed with moderate-to-severe plaque psoriasis received etanercept during a 12-month period. RESULTS: Altogether, 444 patients were enrolled. Overall, 325 patients (73.2%) initiated etanercept treatment at a dose of 50 mg twice weekly; 96 patients (21.6%) received etanercept as a continuous regimen for the entire study period, and 348 patients (79.4%) an intermittent regimen. Among these, 185 patients (41.6% overall) received one course of treatment, stopped at various study points and did not restart etanercept treatment, whereas the remaining 163 patients (36.7% overall) stopped etanercept treatment, lost response, relapsed and were retreated. Most patients who interrupted etanercept treatment did so at month 6. Altogether, 79.7% of patients completed the study period. Etanercept treatment resulted in significant improvement in disease activity. A Psoriasis Area and Severity Index (PASI) 75 response was achieved by 76.1% of patients at month 6. Out of 252 adverse events reported, 31 were considered severe. Three possibly treatment-related malignancies were detected during the study. No opportunistic infections, tuberculosis or demyelinating events were reported. CONCLUSION: The PASI 75 response rate at month 6 in this observational, naturalistic study is similar to those observed in recent published trials with etanercept, and within the range of those reported for other marketed biologicals.

[Diagnostic cost-effectiveness of the skin biopsy in inflammatory diseases of the skin]. / Rentabilidad diagnóstica de la biopsia cutánea en las enfermedades inflamatorias de la piel. Estudio comparativo según el servicio que la realiza.

INTRODUCTION: Inflammatory skin diseases are a very heterogeneous and extensive group of entities whose clinical and pathological diagnosis is difficult. In cases where the clinical diagnosis is doubtful, the histopathological study of one or more lesions can be of great help. The aim of our work is to compare the effectiveness of the histopathological diagnosis in inflammatory skin lesions according to the department performing the biopsy. MATERIAL AND METHODS: A retrospective study was carried out on the reports for pathological study requests and the histopathological reports from the year 2003 from the Pathology Department of Hospital Santa María del Rosell. In the reports for the pathological study requests, the following data was assessed: department performing the biopsy, whether or not the type of lesion was stated on the request form, location, evolution and clinical diagnosis. The histopathological diagnoses were reviewed by one of the authors and classified into two major groups: a) specific diagnoses and b) non-specific diagnoses. Five departments took part in performing biopsies on inflammatory skin lesions: Dermatology, General Surgery, Primary Care, Internal Medicine and Gynecology. To better compare the data, we have divided the departments into two groups: 1. Dermatology Department and 2. Non-dermatology departments. We performed a statistical analysis (proportion comparison) of the specific diagnoses between the two groups and among the specific diagnoses of the non-dermatology departments. RESULTS: The total number of inflammatory skin lesions studied was 97. The Dermatology Department performed 48 biopsies, and the non-dermatology departments performed 49. There was less clinical data in the reports sent by the non-dermatological departments than in those from the Dermatology Department. The pathologist made a specific diagnosis in 77 % of the biopsies performed by the Dermatology Department, compared to 41 % of the biopsies sent by the non-dermatology departments (p < 0.001). There are no statistically significant differences among the specific diagnoses made by the departments that make up the non-dermatology group. CONCLUSION: The histopathological diagnoses made in the biopsies sent from the Dermatology Department are more specific (77 %) than those made in the biopsies performed by the non-dermatology departments (41 %). Thus, biopsies on inflammatory skin lesions should be performed by the Dermatology Department so that diagnostic effectiveness is maximized, and in order to prevent delays and inappropriate treatments that might be harmful to the patient.