Síndrome de Maffucci

.—The Maffucci's syndrome is mesodermic dysplasia characterized for the coexistence of subcutaneous vascular lesions (fundamentally haemangiomas) and enchondromas. The enchondromas is bony tumours characterized by the cartilage persistence in your metaphysic and epiphysic. This tumour can be cause of the deformity and the reduction of the member due to the expansion of the cartilage inside the bone.The haemangioma are a deep vascular tumours, histological appearance is a spindle-cell haemangioma.On the basis of a 26 year-old woman with multiple vascular lesions (haemangioma) and bony (enchondromas) characteristic of the Maffucci's syndrome, we review the clinical characteristics, histologic, epidemiologic and associated features or the process.     

Síndrome de Gorlin

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.     

Síndrome de Schnitzler

—The Schnitzler's syndrome is defined by a unique constellation of clinical and biological signs including chronic urticaria, intermittent fever, bone pain, arthralgia or arthritis, and a monoclonal IgM gammopathy.We report a patient with daily bouts of urticariform lesions very resistant to therapy with antihistamines and oral corticosteroids, associated with episodes of fever and bone pain. The patient had leukothrombocytosis, anemia associated to chronic inflammatory processes and an increased erythrocyte sedimentation rate. Serum protein electrophoresis demonstrated a monoclonal IgM component with kappa light chains on immunofixation. Techniques of radiodiagnosis revealed focal bone densification in some vertebrae. The histopatologic study of cutaneous lesions showed features of urticaria without vasculitis.According to these clinical, laboratory and radiological features, the diagnosis of Schnitzler syndrome was established.     

Cirugía de Mohs

—Mohs surgery is a surgical technique that allows the treatment of selected cutaneous tumours with the most elevated cure rates. It also saves the maximun of healthy tissue. This is possible because 100 % of tumoral margins are microscopically analized in each of the examined slices and surgery goes on until no residual tumor is left.This technique has great acceptation in USA, where 30 % of all the basal cell carcinomas are extirpated with Mohs surgery. In Europe, the use of this technique is increasing.We review all the technical aspects, alternative treatments, tumoral approach, technical variants and innovations. We review the old and new indications that appear in the literature.     

Epidemiología clínica de la alopecia areata

. —Since Ikeda described in 1965 her four clinical forms of alopecia areata (common, atopic, prehypertensive, combined), several epidemiological studies have deepened in the knowledge of this disease, confirming or questioning many of the initial findings. The series of cases made with inpatient samples can overlue the frequency of severe forms (total and universal alopecia) and the prognosis of alopecia areata. Studies carried out in general population gives an incidence of 20.2 new cases/100,000 people/year, and a lifetime-prevalence figure of 1.7%. Slight and moderate cases are frequent, developing a total/universal alopecia in the evolution only 7% of patients. It was described also a distribution of uniform beginning of alopecia areata in all ages, and a gender- ratio next to 1:1. Finally, current genetic studies and clinical- epidemiological ones have found two clinical forms of disease («genetic» or severe, and «benign» or stress-related), with different HLA markers, evolution, clinical presentation and relationship with psychosocial stress. However, more population studies than clarify some unclear features of disease are needed.     

Edema facial como primer síntoma de un síndrome de la vena cava superior

—A sixty-two year old man smoker of twenty cigarrettes a day, suddenly presented facial edema, jugular ingurgitation and collateral circulation in the thorax. A chest X-ray was performed under the suspicion of a superior vena cava syndrome and it showed the presence of a mediastinic mass. Further studies demostrated an of the lung oat cell carcinoma.     

Evaluación de la calidad de guías de práctica clínica para el tratamiento de psoriasis mediante la herramienta AGREE II

BackgroundClinical practice guidelines (CPGs) are designed to help health professionals provide patients with excellent medical care. The last critical appraisal of CPGs on the treatment of psoriasis evaluated publications up to 2009, but several new guidelines have been published since and their methodological quality remains unclear.ObjectiveThe aim of this study was to systematically evaluate the quality of CPGs on the treatment of psoriasis published between 2010 and 2020 using the Appraisal Guidelines Research and Evaluation II (AGREE II) tool.Material and methodsWe searched for relevant CPGs in MEDLINE, Embase, and LILACS (Latin American and Caribean Health Sciences Literature) as well as in the gray literature. Two reviewers working independently selected the guidelines for analysis and extracted the relevant data. Each guideline was then assessed using the AGREE II instrument by 5 reviewers, also working independently.ResultsNineteen CPGs met the inclusion criteria and most of them had been produced in high-income countries. The mean (SD) domain scores were 84.9% (14.7%) for scope and purpose, 65.5% (19.3%) for stakeholder involvement, 66.7% (15.6%) for rigor of development, 72.8% (16.8%) for clarity of presentation, 46.6% (21.7%) for applicability, and 57.0% (30.4%) for editorial independence.ConclusionsAlthough about three-quarters of the CPGs assessed were judged to be of high quality and over half were recommended for use in clinical practice, standards of guideline development need to be raised to improve CPG quality, particularly in terms of applicability and editorial independence, which had the lowest scores in our evaluation.     

Taponamiento cardíaco por sarcoma de Kaposi

—Kaposi's sarcoma is a systemic angiomatous tumor that generally affects individuals over 50 years of age; it is mainly observed in male patients. Few cases of visceral involvement have been described in its classic form. In this work, we describe a case of classic Kaposi's sarcoma with disseminated skin lesions, involvement of multiple internal organs and fatal evolution. The cause of death was a cardiac tamponade caused by the Kaposi's sarcoma lesions that developed in the epicardium and the pericardium.     

Hiperqueratosis epidermolítica en forma de mosaico

We report the case of a 6-year-old girl with hyperkeratotic plaques following Blaschko's lines on the left part of her body. The cutaneous biopsy showed epidermolytic hyperkeratosis. Oral acitretin 0.5 mg/kg/d was started with good response. The fact that this mosaicism could be traduced in bullous congenital ichthyosiform erythroderma in the descendants is noticed.     

Factores de riesgo de carcinoma espinocelular,un estudio del Centro Nacional de Dermatología de Colombia

IntroductionNonmelanoma skin cancer is the most common malignancy in white individuals. The risk factors for squamous cell carcinoma, which belongs to the family of nonmelanoma skin cancers, have not been studied in Colombia.ObjectiveTo determine the risk factors for squamous cell carcinoma in patients at a national referral center for skin diseases in Colombia.Material and methodsWe conducted a case-control study that evaluated sociodemographic, epidemiological, and clinical factors among 332 individuals. Risk was calculated as odds ratio (ORs) using the multivariate conditional logistic regression analysis method.ResultsThe following risk factors were identified: family history of skin cancer (OR, 6.55; 95% CI, 1.4-28.9), living in a rural area after the age of 30 years (OR, 3.13; 95% CI, 1.3-7.2), a lifetime working outdoors (OR, 2.98; 95% CI, 1.5-5.7), smoking more than 10 cigarettes a day (OR, 2.96; 95% CI, 1.3-6.5), actinic conjunctivitis (OR, 2.68; 95% CI, 1.2-5.9), poikiloderma of Civatte (OR, 3.29; 95% CI, 1.7-6.1), numerous facial actinic keratoses (OR, 9.23; 95% CI, 4.9-17.1), and numerous freckles (OR, 3.68; 95% CI, 1.3-10.1).ConclusionsWe have documented clinical characteristics and personal history factors that should guide the physician in making decisions on the preventive and follow-up measures to be adopted for individuals at risk of squamous cell carcinoma. These findings may help guide policy for controlling the disease using local information.