Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

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.

First autochthonous malaria case due to Plasmodium vivax since eradication, Spain, October 2010.

In October 2010, one case of autochthonous malaria due to Plasmodium vivax was diagnosed in Spain. The case occurred in Aragon, north-eastern Spain, where the vector Anopheles atroparvus is present. Although the source of infection could not be identified, this event highlights that sporadic autochthonous transmission of vector-borne diseases in continental Europe is possible and calls for enhanced surveillance and vector control measures.

[Initial evaluation, diagnosis, staging, treatment, and follow-up of patients with primary cutaneous malignant melanoma. Consensus statement of the Network of Catalan and Balearic Melanoma Centers]. / Valoración inicial, diagnóstico, estadificación, tratamiento y seguimiento de los pacientes con melanoma maligno primario de la piel. Documento de consenso de la "Xarxa de Centres de Melanoma de Catalunya i Balears"

The consensus statement on the management of primary cutaneous melanoma that we present here was based on selection, discussion, review, and comparison of recent literature (including national and international guidelines). The protocols for the diagnosis, treatment, and follow-up used in the hospital centers throughout Catalonia and the Balearic Isles belonging to the Network of Catalan and Balearic Melanoma Centers were also considered. The main objective of this statement was to present the overall management of melanoma patients typically used in our region at the present time. As such, the statement was not designed to be an obligatory protocol for health professionals caring for this group of patients, and neither can it nor should it be used for this purpose. Professionals reading the statement should not therefore consider it binding on their practice, and in no case can this text be used to guarantee or seek responsibility for a given medical opinion. The group of dermatologists who have signed this statement was created 3 years ago with the aim of making our authorities aware of the importance of this complex tumor, which, in comparison with other types of cancer, we believe does not receive sufficient attention in Spain. In addition, the regular meetings of the group have produced interesting proposals for collaboration in various epidemiological, clinical, and basic applied research projects on the subject of malignant melanoma in our society.

Valoración inicial, diagnóstico, estadificación, tratamiento y seguimiento de los pacientes con melanoma maligno primario de la piel. Documento de consenso de la 'Xarxa de Centres de Melanoma de Catalunya i Balears' / Initial evaluation, diagnosis, staging, treatment, and follow-up of patients with primary cutaneous malignant melanoma. Consensus statement of the network of Catalan and Balearic Melanoma Centers

El documento de consenso respecto al manejo del melanoma primario de la piel, que detallamos a continuación, nace de la puesta en común, aceptación, revisión y confrontación con la literatura reciente (incluyendo guías clínicas nacionales e internacionales), así como de los protocolos de diagnóstico, seguimiento y tratamiento consensuados en los diferentes centros hospitalarios de toda Cataluña y Balerares pertenencientes a la Xarxa de Centres de Melanoma de Catalunya i Balears. El objetivo principal de este documento es exponer de forma conjunta el manejo habitual del paciente con melanoma que actualmente se realiza en nuestro medio. Sin embargo, este documento no pretende, ni puede, por lo que tampoco debiera ser usado como un protocolo de obligado cumplimiento por los profesionales que atendemos a este grupo de enfermos. En este sentido, cabe mencionar que la consulta de este documento por parte del profesional no es vinculante para su acción, y en ningún caso este texto podrá ser utilizado para garantizar o buscar responsabilidades del juicio médico concreto. El grupo de dermatólogos que firman dicho documento se formó hace ahora tres años, con la intención de dar a conocer a nuestras autoridades la importancia de este complejo tumor, que en nuestro país creemos que se encuentra erróneamente infravalorada con respecto a otros tipo de cáncer. Además, fruto de las reuniones periódicas del grupo, han surgido también interesantes propuestas de colaboración en distintos proyectos de investigación epidemiológica, clínica y básica aplicada en torno al melanoma maligno en nuestra sociedad (AU)

The consensus statement on the management of primary cutaneous melanoma that we present here was based on selection, discussion, review, and comparison of recent literature (including national and international guidelines). The protocols for the diagnosis, treatment, and follow-up used in the hospital centers throughout Catalonia and the Balearic Isles belonging to the Network of Catalan and Balearic Melanoma Centers were also considered. The main objective of this statement was to present the overall management of melanoma patients typically used in our region at the present time. As such, the statement was not designed to be an obligatory protocol for health professionals caring for this group of patients, and neither can it nor should it be used for this purpose. Professionals reading the statement should not therefore consider it binding on their practice, and in no case can this text be used to guarantee or seek responsibility for a given medical opinion. The group of dermatologists who have signed this statement was created 3 years ago with the aim of making our authorities aware of the importance of this complex tumor, which, in comparison with other types of cancer, we believe does not receive sufficient attention in Spain. In addition, the regular meetings of the group have produced interesting proposals for collaboration in various epidemiological, clinical, and basic applied research projects on the subject of malignant melanoma in our society (AU)

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.

Neutral lipid storage disease (Chanarin-Dorfman syndrome) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids (lipid droplets) in various types of cells. The clinical presentation has been reported to correspond to that of nonbullous congenital ichthyosiform erythroderma. We report a 4-year-old boy presenting a generalized ichthyosiform disorder manifested by migrating scaly plaques alternating with areas of normal-looking skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes. Genetic studies from the patient and his parents revealed that the patient carried two different and novel mutations of the ABHD5 gene: a nonsense mutation in exon 6 (transmitted by the father) and an insertion/deletion in exon 4 (transmitted by the mother). Our observation demonstrates the clinical heterogeneity of the ichthyosiform dermatoses observed in Chanarin-Dorfman syndrome and widens the clinical range of conditions presenting migrating scaly plaques mimicking EKV.

Subacute cutaneous lupus erythematosus associated with cinnarizine and thiethylperazine therapy.

We report the case of a woman who developed subacute cutaneous lupus erythematosus (SCLE) after exposure to the sun while taking cinnarizine and thiethylperazine. The patient recalled that 10 years previously, a similar eruption had appeared after sunbathing, while she was taking only cinnarizine. SCLE development in this patient was probably drug related and there is some evidence that cinnarizine played an important pathogenic role.

Flutamide photosensitivity--residual vitiliginous lesions.

A case of flutamide photosensitivity is reported in a patient receiving treatment for prostate cancer. Photopatch testing with flutamide at 10 and 20% in acetone was positive and controls negative. Other reports in the literature indicate that flutamide photosensitivity can be produced either by UV-A or UV-B, but the small number of reports and the differences in the tests performed do not allow the specific characteristics of flutamide photosensitivity to be established. Presently it would be advisable, due to the frequent use of this drug, to include flutamide in the investigation of photosensitive patients.

Prevalence des dermatoses rencontrées dans une école primaire privée à Cotonou

Les maladies de peau sont tres frequentes chez les enfants en milieu scolaire. L'objectif de cette enquete est d'apprecier la prevalence des dermatoses en milieu scolaire urbain beninois. Patients et methode : Une etude transversale a ete menee au mois de janvier 2007 a l'Ecole Primaire les `Neems' a Cotonou. L'enquete a concerne tous les ecoliers du Cours d'Initiation au Cours elementaire premiere annee (CE1). Elle a eu lieu au cours de la visite medicale traditionnelle realisee par deux pediatres accredites associes a un dermatologue pour la circonstance .Tous les diagnostics etaient retenus sur la base d'elements cliniques. Les donnees recueillies sont analysees avec EPIINFO version 2002 Le test exact de Fisher a ete utilise pour la comparaison des pourcentages. Resultats Deux cent soixante quatre (264) ecoliers; d'age moyen 7 ans ont ete examines. Le sex-ratio H/F etait de 0;84. Huit dermatoses differentes representant un total de 40 cas ont ete notees a l'examen. soit une prevalence de 15;1. Le prurigo atopique; la xerose et la dermatite atopique representaient plus de 50des cas (n=24); soit une prevalence de 9pour les affections atopiques. Les pathologies infectieuses (n=11) etaient representees par le pityriasis versicolor ; les folliculites superficielles; la teigne et la verrue vulgaire . Leur prevalence etait estimee a 4;1.Il n'y a pas de difference entre les sexes sauf pour le pityriasis versicolor qui a montre une predominance masculine nette (p=0;02). Discussion Cette etude descriptive transversale n'a concerne qu'un nombre limite d'ecoliers; deux cent soixantequatre comparativement a d'autres series [1;2]. Les pathologies allergiques predominaient sur l'ensemble des dermatoses constatees chez les enfants; representant 50des cas des dermatoses repertoriees. Conclusion : Cette etude a revele l'importance des manifestations liees au terrain atopique chez des jeunes ecoliers en milieu urbain beninois

[Cryptococcosis: presentation of 26 cases]. / Criptococosis: presentación de 26 casos.

BACKGROUND: Cryptococcosis is more frequently observed since the appearance of the acquired immunodeficiency syndrome (AIDS). AIDS has modified the clinical and evolutive forms of the disease. This study reviews the changes produced in the infection from the context of AIDS. METHODS: The present is a retrospective study (1985-1990) including patients presenting: 1) a positive latex agglutination test (serum or spinal fluid) or 2) a Sabouraud culture positive for cryptococcus. Clinical histories were revised collecting clinical, radiologic, analytic, therapeutic and evolutive data. RESULTS: Twenty-six patients (21 males) were included in the study. Twenty patients had the human immunodeficiency virus. The clinical picture was: 22 cases with cryptococcal meningitis (13 with hematogenous participation), 3 with pulmonary cryptococcosis and one with disseminated cryptococcosis without meningeal involvement. The patients with AIDS had: greater frequency of positive hemocultures, higher serologic titers and fewer with the meningeal syndrome. The number of T4 lymphocytes was lower than 150 elements/ml in AIDS patients. In 17 patients treatment with amphotericin B and 5-fluorocytosine was administered, 5 received amphotericin B and two fluconazole and two did not receive the above since they had not been diagnosed alive. There were 6 deaths and 10 relapses in 6 AIDS patients and none in the remaining patients. CONCLUSIONS: The incidence of cryptococcosis has increased as a consequence of AIDS. In these patients the disease occurs in advanced stages of immunodeficiency and frequently in disseminated, severe and paucisymptomatic forms. Treatment is usually effective although a maintenance therapy is required to avoid relapse.

Clinical and non-invasive evaluation of 12% ammonium lactate emulsion for the treatment of dry skin in atopic and non-atopic subjects.

Clinical dryness of the leg skin is a common problem among dermatological patients. The efficacy and safety of 12% ammonium lactate emulsion (Keratisdin) for the treatment of dry skin on the legs of atopic and non-atopic subjects has been assessed by clinical criteria and by five different non-invasive methods. These methods measure biophysical parameters such as electrical capacitance of stratum corneum, skin surface lipids, transepidermal water loss (TEWL), skin surface topography (scanning electron microscopy and image analysis) as well as the biomechanical properties of the skin. Treatment with the test emulsion significantly reduced the severity scores for dryness, desquamation and pruritus when measured 15 days later. All patients tested showed a significant increase in electrical capacitance, skin surface lipids, extensibility and firmness of the skin, and an improvement in the skin barrier function and skin surface topography. This study showed that non-invasive techniques are excellent complementary tools in clinical studies.

[Syphilis and human immunodeficiency virus infection: diagnostic and therapeutic problems. Presentation of 2 cases and review of the literature]. / Sífilis e infección por el virus de la immunodeficiencia humana: problemas diagnósticos y terapéuticos. Presentación de dos casos y revisión de la literatura.

We here present the clinical cases of two homosexual patients, carriers of human immunodeficiency virus (HIV), who later presented a syphilis infection and who after receiving the usually recommended treatment, suffered a relapse of the infection six months afterwards, with neurologic involvement in one case. The clinical characteristics are discussed as well as the diagnostic and therapeutic problems which syphilis infection presents in HIV infected patients. Serological results are comparable to those of the general population, although face positives have been occasionally reported as well as some abnormally elevated titers. It is possible that neurosyphilis might be more frequent and of earlier appearance in HIV infected patients. Therefore, it might be necessary to carry out a spinal fluid exam, in these type of patients, in order to rule out the existence of an early and/or asymptomatic neurologic affectation and give the appropriate antibiotic treatment.

Hepatic Kaposi sarcoma in AIDS: US and CT findings.

Abdominal ultrasonography (US) and computed tomography (CT) were performed in two patients with acquired immunodeficiency syndrome (AIDS) and necropsy-proved hepatic Kaposi sarcoma. At US, small (5-12-mm) hyperechoic nodules and dense periportal bands were seen in the liver. These lesions appeared hypoattenuated on baseline and dynamic CT scans and enhanced on delayed scans after a bolus injection of contrast material. Although nonspecific, these features strongly suggest tumor involvement in the liver in patients with AIDS and Kaposi sarcoma.

AIDS and Salmonella-infected abdominal aortic aneurysm.

The case of a bisexual male patient with acquired immunodeficiency syndrome (AIDS) and an infected abdominal aortic aneurysm requiring surgery is presented. Attention is drawn to the fact that an unpredictable number of operations will be needed in AIDS patients in the next future.