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El síndrome LEOPARD es una enfermedad autosómica dominante producida por mutaciones germinales en la vía RAS-MAPK. El acrónimo agrupa las manifestaciones más importantes de la enfermedad (Lentiginosis, ECG conduction anomalies, Ocular hypertelorism/hypertrophicObstructive cardiomyopathy, Pulmonary stenosis, Abnormalities of genitalia, growthRetardation andDeafness), pero ninguna de ellas es patognomónica ni constante, por lo que muchos pacientes no las presentan en el momento del diagnóstico. Presentamos 2 casos de síndrome LEOPARD sin sordera ni estenosis pulmonar en los que la detección de la mutación en el gen PTPN11 permitió confirmar la enfermedad, y señalamos la importancia del seguimiento continuado para la detección precoz de las complicaciones, ya que las mismas pueden aparecer en el transcurso de la enfermedad.

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.

Dermatology in-house call is uncommon in the Spanish national health system. The objective of the present study was to define the groups of dermatologic diseases and conditions most frequently seen in the emergency department and to evaluate the need for dermatology in-house call in the training of medical residents.

La existencia de guardias de Dermatología es escasa en nuestro sistema nacional de salud. El objetivo del presente estudio es definir cuáles son los grupos de enfermedades y afecciones dermatológicas más frecuentes que acuden a urgencias y valorar la necesidad de dichas guardias para la formación del médico interno residente (MIR).

La ecografía cutánea consiste en aplicar los conceptos y principios físicos generales de la ecografía a la piel y los anejos. La semiología, los artefactos y la aplicación de la exploración Doppler permiten valorar los fenómenos biológicos y patológicos en la piel y sus anejos.

LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (rat sarcoma mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these characteristic features, however, are pathognomonic of LEOPARD syndrome, and since they are highly variable, they are often not present at the time of diagnosis. We describe 2 cases of LEOPARD syndrome without hearing loss or pulmonary stenosis in which diagnosis was confirmed by identification of a mutation in the PTPN11gene. Regular monitoring is important for the early detection of complications, as these can occur at any time during the course of disease.

Incluso después de la promulgación del código de Nuremberg las investigaciones sobre sífilis continuaron alejándose en muchas ocasiones de los estándares éticos. En este artículo hemos revisado las investigaciones que sobre esta enfermedad tuvieron lugar después de la Segunda Guerra Mundial, centrándonos en los casos de Guatemala y de Tuskegee. En Guatemala durante los años 1946 a 1948 se inoculó deliberadamente a más de 1.000 adultos sífilis, chancroide y gonorrea, y se hicieron miles de serologías a poblaciones indígenas o a niños huérfanos. El experimento Tuskegee sobre sífilis fue realizado entre 1932 y 1972 por el Servicio Público de Salud de los Estados Unidos para estudiar la evolución natural de esta enfermedad en ausencia de tratamiento. Se realizó sobre un grupo de población rural de raza negra y no se interrumpió a pesar de la introducción de tratamientos eficaces para la resolución de la enfermedad durante estos años (1945).

Even after the Nuremberg code was published, research on syphilis often continued to fall far short of ethical standards. We review post-World War IIresearch on this disease, focusing on the work carried out in Guatemala and Tuskegee. Over a thousand adults were deliberately inoculated with infectious material for syphilis, chancroid, and gonorrhea between 1946 and 1948 in Guatemala, and thousands of serologies were performed in individuals belonging to indigenous populations or sheltered in orphanages. The Tuskegee syphilis study, conducted by the US Public Health Service, took place between 1932 and 1972 with the aim of following the natural history of the disease when left untreated. The subjects belonged to a rural black population and the study was not halted when effective treatment for syphilis became available in 1945.

Physicians have conducted research on syphilis for centuries, seeking to understand its etiology and the means of transmission as well as find ways to prevent and cure the disease. Their research practices often strayed from today's ethical standards. In this paper we review ethical aspects of the long history of research on syphilis with emphasis on the experiments performed in the 20th century. The description of research around the time of World War II covers medical experiments carried out in US prisons and in the experimentation centers established by Japanese doctors in occupied territory, as well as experiments in Nazi Germany and the treatment of syphilitics there.

Durante siglos la sífilis ha sido objeto de investigación por parte de los médicos, dado que la etiología, la forma de contagio, la profilaxis y el tratamiento eran desconocidos. En muchas ocasiones las investigaciones se han alejado de los estándares éticos actuales. En este artículo hemos revisado desde un punto de vista histórico y ético las investigaciones que sobre esta enfermedad se han ido realizando a lo largo de los siglos, centrándonos sobre todo en aquellos experimentos realizados en el siglo xx. Describimos con detalle los estudios realizados en los años que tuvieron lugar alrededor de la Segunda Guerra Mundial: experimentos realizados por los médicos norteamericanos en prisiones de Estados Unidos, la sífilis en la Alemania nazi o los ensayos realizados por los japoneses en centros de experimentación creados a tal fin en los territorios ocupados.

Vitiligo is a skin condition characterized by white, hypopigmented macules. Melanocyte loss is a feature of the disease, and it has been hypothesized that an autoimmune mechanism could be responsible for the depigmentation. Melanoma is a malignancy that develops in melanocytes; if not detected and treated early, it is often deadly. Leukoderma, a condition characterized by depigmentation of the skin, is sometimes associated with malignant melanoma. An immune response against melanocyte antigens leading to destruction of either melanoma cells or melanocytes has been observed in both vitiligo and melanoma. Studies in animal models and humans have shown that humoral and cell-mediated immune responses are involved in modulating cytotoxic activity against tumor cells and normal melanocytes. The study of factors associated with anti-tumor immunopathogenic mechanisms —autoimmunity for example—may provide us with tools for the diagnosis and treatment of diseases such as vitiligo and malignant melanoma.

During the Nazi period experimentation on human subjects and the elimination of individuals considered to be unproductive members of society were carried out in a systematic fashion. Involved in these practices were many physicians, including dermatologists whose names are linked in one way or another to their specialty. Some, such as Reiter, are very well known. This review attempts to bring to light the identities behind the names we have given to diseases, clinical and histological signs, and syndromes in dermatology.

Biologic therapies have been a major breakthrough in the treatment of psoriasis because they are more selective and have a better short-term and medium-term safety profile. There are reliable data to support both the efficacy and the safety of these drugs. However, it is always useful to report the clinical experience of dermatologists who are experts in the use of biologic agents to treat psoriasis, particularly with regard to their safety.

Topical therapy continues to be one of the pillars of psoriasis management. Topical corticosteroids and vitamin D analogs are the drugs of choice during the induction phase, and vitamin D analogs continue to be drugs of choice for maintenance therapy. Tazarotene and dithranol are suitable options in patients with certain, specific characteristics. The calcineurin inhibitors can be considered to be second-line treatment for psoriasis of the face and flexures. The efficacy and safety of the fixed-dose combination of betamethasone and calcipotriol in the induction phase is greater than that of either drug alone. The combination of corticosteroids with salicylic acid achieves better results than corticosteroids in monotherapy. None of the drugs evaluated stands out over the others in all clinical situations, and their use must therefore be individualized in each patient and adjusted according to the course of the disease.