I Jornada de expertos en ictiosis / First Symposium of Ichthyosis Experts

El día 22 de junio de 2012 se celebró en el Hospital Niño Jesús la I Jornada de expertos en ictiosis, una jornada monográfica dirigida a dermatólogos, pediatras y médicos en formación interesados en esta enfermedad, así como al resto de profesionales sanitarios que participan en su atención. El objetivo de la l Jornada de expertos en ictiosis fue intentar estructurar la atención de los pacientes con ictiosis en España. Como ocurre con el resto de las enfermedades raras, su escasa prevalencia y la ausencia de centros de referencia formales diluyen el número de pacientes atendidos en cada centro, y pocos dermatólogos tienen verdadera experiencia clínica o conocen la manera de solicitar diagnóstico genético. En este artículo se resumen las ponencias expuestas en la Jornada para consulta de aquellas personas interesadas en el tema (AU)

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject (AU)

Alertas cutáneas en malignidades sistémicas (parte 2) / Cutaneous Manifestations of Systemic Malignancies: Part 2

La piel puede ser «clave» en el diagnóstico precoz de neoplasias sistémicas. En esta segunda parte se abordan una serie de dermatosis agrupadas por sus características morfológicas, muy diversas, que en un contexto apropiado contribuyen a desenmascarar procesos malignos. Se analizan las lesiones erosivas y ampollares, las pápulas y nódulos inflamatorios, la xerosis, ictiosis, dermatitis exfoliativa generalizada, síntomas como el prurito, alteraciones de la distribución del pelo, trastornos de la sudoración, tumores benignos que pueden formar parte de síndromes heredofamiliares en cuya evolución se puede desarrollar cáncer visceral. Por último se describen las lesiones ungueales y bucales en relación con malignidad sistémica. En definitiva, se destaca la importancia de la piel en el estudio de las neoplasias sistémicas (AU)

The skin can be key to early diagnosis of systemic malignancies. In the second part of this review, we present various skin conditions that can, in certain contexts, reveal the presence of malignancy. The skin conditions are presented in groups based on a diverse range of morphological characteristics. Specifically, the following groups are analyzed: erosive and blistering lesions; inflammatory papules and nodules; xerosis, ichthyosis, and generalized exfoliative dermatitis; symptoms such as pruritus; abnormal hair distribution patterns; sweating disorders; benign tumors that can form part of hereditary syndromes associated with a risk of visceral cancer; and finally, oral and nail abnormalities. This review highlights the importance of the skin in the study of systemic malignancies (AU)

Cutaneous manifestations of systemic malignancies: part 2.

The skin can be key to early diagnosis of systemic malignancies. In the second part of this review, we present various skin conditions that can, in certain contexts, reveal the presence of malignancy. The skin conditions are presented in groups based on a diverse range of morphological characteristics. Specifically, the following groups are analyzed: erosive and blistering lesions; inflammatory papules and nodules; xerosis, ichthyosis, and generalized exfoliative dermatitis; symptoms such as pruritus; abnormal hair distribution patterns; sweating disorders; benign tumors that can form part of hereditary syndromes associated with a risk of visceral cancer; and finally, oral and nail abnormalities. This review highlights the importance of the skin in the study of systemic malignancies.

Alertas cutáneas en malignidades sistémicas (parte I) / Cutaneous alerts in systemic malignancy: Part 1

El objetivo de esta revisión es alertar al dermatólogo y a los clínicos en general de los signos y síntomas cutáneos que pueden contribuir al diagnóstico precoz de una neoplasia subyacente. Puesto que la piel es uno de los órganos más accesibles, nunca debe ser ignorada en las enfermedades sistémicas. Posee la ventaja de que su exploración no requiere técnicas agresivas y nos revela datos importantes de la situación del paciente. Habitualmente se abordan los síndromes paraneoplásicos clásicos, pero hay una gran variedad de procesos cutáneos no estrictamente paraneoplásicos, que en un determinado contexto sugieren la presencia de una malignidad o que tienen más riesgo de desarrollarla a lo largo de la vida. Se ha optado por enumerar las distintas dermatosis agrupándolas por su morfología clínica, siguiendo un orden aleatorio. Varios de los procesos comparten signos y síntomas múltiples, por lo que se ha recurrido al más notorio para incluirlo en un determinado grupo (AU)

The aim of this review is to familiarize dermatologists and clinicians in general with cutaneous signs and symptoms that can help lead to an early diagnosis of an underlying malignancy. Because the skin is one of the most accessible organs, it should never be overlooked in systemic disease. Examination of the skin has the advantage of revealing important information about the patient’s condition without requiring the use of invasive techniques. In the literature, most discussions of cutaneous manifestations of internal malignancy refer to classic paraneoplastic syndromes, but a wide variety of skin conditions, while not strictly paraneoplastic, can, in certain contexts, indicate the presence of malignancy or an increased risk of developing cancer later in life. In this review, various skin conditions that can signal malignancy or increased cancer risk are presented in randomly ordered groups based on clinical morphology. Conditions with multiple signs and symptoms have been classified on the basis of their most characteristic feature (AU)

Cutaneous alerts in systemic malignancy: part I.

The aim of this review is to familiarize dermatologists and clinicians in general with cutaneous signs and symptoms that can help lead to an early diagnosis of an underlying malignancy. Because the skin is one of the most accessible organs, it should never be overlooked in systemic disease. Examination of the skin has the advantage of revealing important information about the patient's condition without requiring the use of invasive techniques. In the literature, most discussions of cutaneous manifestations of internal malignancy refer to classic paraneoplastic syndromes, but a wide variety of skin conditions, while not strictly paraneoplastic, can, in certain contexts, indicate the presence of malignancy or an increased risk of developing cancer later in life. In this review, various skin conditions that can signal malignancy or increased cancer risk are presented in randomly ordered groups based on clinical morphology. Conditions with multiple signs and symptoms have been classified on the basis of their most characteristic feature.

First symposium of ichthyosis experts.

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was to try to structure the care of ichthyosis patients in Spain. As happens in other rare diseases, because of the low prevalence of ichthyosis and the absence of designated referral centers, the number of patients treated in each center is very low and few dermatologists have any real clinical experience with this condition or know how to order diagnostic genetic tests. This article summarizes the presentations given at the symposium and is intended as a reference for anyone interested in the subject.

Penfigoide dishidrosiforme / Dyshidrosiform pemphigoid

El penfigoide dishidrosiforme es una variante de penfigoide ampolloso localizado. Se caracteriza por la presencia de vesículas sero-hemorrágicas en palmas y/o plantas que recuerdan el eccema dishidrótico. La mayoría de pacientes responden a corticoterapia oral a dosis bajas. Presentamos el caso de un varón de 54 años que consultó por lesiones vesiculosas en palmas y plantas que habían sido tratadas con corticoide tópicos in respuesta. Iniciamos corticoterapia a dosis baja, con remisión completa del cuadro a las 2 semanas (AU)

Dyshidrosiform pemphigoid is a localized variant of bullous pemphigoid. It appears as a vesicular eruption with serohemorrhagic content on the palms and/or the soles, similarly to the dyshidrotic eczema. Most of the patients show a good response with low-dose oral corticotherapy. We present the case of a 54-year-old male who was admitted with vesicular lesions on palms and soles, which had not improved with topical corticotherapy. He was treated with low-dose corticotherapy with complete remission after two weeks (AU)

Mama ectópica vulvar / Accessory Breast on the Vulva

Se describe el caso de una mujer de 24 años de edad con una tumoración subcutánea localizada en la región pubiana inferior izquierda cuyo estudio histopatológico mostró una mama ectópica. Las lesiones tumorales vulvares son poco frecuentes y la presencia de tejido mamario ectópico a nivel vulvar es extremadamente rara. El motivo de consulta en estos casos suele ser el aumento de tamaño fluctuante en relación con cambios hormonales, generalmente secundarios al embarazo o la lactancia, o con alteraciones tumorales asociadas. El caso que se presenta mostraba un crecimiento progresivo sin aparente causa hormonal o neoplásica subyacente, se trataba por tanto de una mama ectópica con clínica de tumoración subcutánea (AU)

We describe a 24-year-old woman with a subcutaneous swelling in the left inferior pubic region. Histology revealed ectopic breast tissue. Vulvar tumors are uncommon and the presence of ectopic breast tissue in this region is extremely rare. In these cases, patients usually consult for a mass that varies in size with hormonal changes, typically during pregnancy or breast-feeding, or that has associated neoplastic changes. In our patient, the mass had grown progressively with no identifiable underlying hormonal association or neoplasm. We therefore classified it as ectopic breast tissue presenting as a subcutaneous mass (AU)

[Accessory breast on the vulva]. / Mama ectópica vulvar.

We describe a 24-year-old woman with a subcutaneous swelling in the left inferior pubic region. Histology revealed ectopic breast tissue. Vulvar tumors are uncommon and the presence of ectopic breast tissue in this region is extremely rare. In these cases, patients usually consult for a mass that varies in size with hormonal changes, typically during pregnancy or breast-feeding, or that has associated neoplastic changes. In our patient, the mass had grown progressively with no identifiable underlying hormonal association or neoplasm. We therefore classified it as ectopic breast tissue presenting as a subcutaneous mass.

Signos cutáneos en enfermedadespancreáticas / Cutaneous signs in pancreatic diseases

Las manifestaciones cutáneas pueden preceder a las digestivas en un 20-40% de los pacientes con enfermedades pancreáticas, lo que justifica laimportancia del conocimiento de los signos cutáneos asociados a estas entidades para realizar un diagnóstico precoz. A continuación se presenta unarevisión de los signos cutáneos directos e indirectos relacionados con patología pancreática, tanto inflamatoria como tumoral. En la primera, se hanincluido la paniculitis y los signos hemorrágicos asociados a pancreatitis. Entre los procesos relacionados con el carcinoma pancreático se presta atenciónal síndrome de Trousseau, al síndrome de Peutz-Jeguers, al melanoma múltiple familiar atípico y a la fascitis paraneoplásica. Se explica también elsíndrome del glucagonoma, dada su elevado número de complicaciones dermatológicas (AU)

Cutaneous manifestations can precedeappear before the gastroenterologisintestinalt features in about 20 to 40% of patients with pancreatic disorders,which highlights the importance of knowing those skin signs associated with pancreatic disease in order to establish an early diagnosis. A Next, areview on direct and indirect cutaneous signs related to pancreatic disease is explainedreviewed, in both inflammatory and tumoral conditions. Concerninginflammatory pancreatic conditions, panniculitis and hemorrhagic signs associated to pancreatitis are reviewedconsidered as well as . Amongskin conditions associated to pancreatic cancer, Trousseau syndrome, Peutz-Jeghers syndrome, multiple familiar melanoma and paraneoplastic fasciitis.are explained. Also, glucagonoma syndrome is reviewed as skin signs are very common in this entity (AU)

[A case of excellent response to efalizumab. Experience in the University Hospital of Salamanca]. / Un caso con excelente respuesta a efalizumab. Experiencia en el Hospital Universitario de Salamanca.

Before initiating treatment with efalizumab, or with any other biological treatment, it is necessary to use objective assessment techniques that allow us to evaluate the activity on course of psoriasis, thus being able to justify the indication of biological therapy and to evaluate the percentage of response to treatment, loss of response or its possible inefficacy. In spite of its limitations, Psoriasis Area and Severity Index (PASI) is the best available option. The definition of moderate psoriasis has been proposed as beginning with a baseline PASI = 7 while serious psoriasis has a score of, according to the different authors, 10 or 12. In the usual clinical practice, other parameters must also be evaluated in the definition of the seriousness of psoriasis and in the indication of establishing a systemic treatment since some forms of psoriasis have a more aggressive course (erythrodermic psoriasis, pustulous psoriasis) and there are locations (head, genitals, hands, etc.) that interfere more intensely with the quality of life of the patients, with increase of social dysfunction, physical incapacity and psychological deterioration. All of the patients treated with biological therapy in our hospital site fulfill the criteria established by the European Medicines Evaluation Agency (EMEA): adult patients with psoriasis in chronic moderate-to-serious ones who have not responded or in its use is contraindicated or who do not tolerate another systemic therapy, including, cyclosporine, methotrexate or phototherapy.

Lipoatrofia semicircular inducida por presión / Pressure-induced lipoatrophia semicircularis

La lipoatrofia semicircular de los muslos es una forma de lipodistrofia localizada poco frecuente caracterizada por unas depresiones horizontales semicirculares a modo de banda, asintomáticas, a menudo bilaterales y simétricas localizadas en la cara anterolateral de los muslos. Su etiopatogenia es desconocida, aunque la mayoría de los casos se asocian a traumatismos de repetición. Una nueva hipótesis implicaría como causa los campos electromagnéticos generados por los ordenadores y sus cables en los edificios modernos. Describimos el caso de una mujer de 28 años que presentaba esta entidad relacionada con el uso de pantalones ajustados (AU)

Lipoatrophia semicircularis of the thighs is an uncommon form of localized lipodystrophy characterized by horizontal semicircular depressions distributed to form a band. The asymptomatic, often bilateral, and symmetric lesions are localized on the anterolateral aspect of the thighs. The pathogenesis of these lesions is unknown, although most cases are associated with repetitive trauma. A new hypothesis has implicated electromagnetic fields produced by computers and their cables in modern buildings as a cause. We describe a case in a 28-year-old woman of lipoatrophia semicircularis that was related to wearing tight pants (AU)

[Pressure-induced lipoatrophia semicircularis]. / Lipoatrofia semicircular inducida por presión.

Lipoatrophia semicircularis of the thighs is an uncommon form of localized lipodystrophy characterized by horizontal semicircular depressions distributed to form a band. The asymptomatic, often bilateral, and symmetric lesions are localized on the anterolateral aspect of the thighs. The pathogenesis of these lesions is unknown, although most cases are associated with repetitive trauma. A new hypothesis has implicated electromagnetic fields produced by computers and their cables in modern buildings as a cause. We describe a case in a 28-year-old woman of lipoatrophia semicircularis that was related to wearing tight pants.

Un caso con excelente respuesta a efalizumab. Experiencia en el Hospital Universitario de Salamanca / A case of excellent response of efalizumab. Experience in the University Hospital of Salamanca

Antes de iniciar el tratamiento con efalizumab, o con cualquier tratamiento biológico, es necesario utilizar técnicas de valoración objetiva que nos permitan evaluar la actividad y la evolución de la psoriasis, para así poder justificar la indicación de la terapia biológica, así como valorar el porcentaje de respuesta al tratamiento, la pérdida de respuesta o su posible ineficacia. A pesar de sus limitaciones, el índice de intensidad y gravedad de la psoriasis (PASI) es la mejor opción disponible. La definición de psoriasis moderada se ha propuesto a partir de un PASI basal = 7 mientras que para la psoriasis grave es, según los distintos autores, 10 o 121. En la práctica clínica habitual, en la definición de la gravedad de la psoriasis y en la indicación de establecer un tratamiento sistémico es preciso valorar también otros parámetros, ya que algunas formas de psoriasis tienen un curso más agresivo (psoriasis eritrodérmica, pustulosa) y existen localizaciones (cabeza, genitales, manos, etc.) que interfieren más intensamente en la calidad de vida de los pacientes, con aumento de la disfunción social, de la discapacidad física y del deterioro psicológico 2,3. Todos los pacientes tratados con terapia biológica en nuestro centro hospitalario cumplen los criterios establecidos por la European Medicines Evaluation Agency (EMEA): pacientes adultos con psoriasis en placas crónica moderada grave que no han respondido o tienen contraindicada o no toleran otra terapia sistémica incluyendo ciclosporina, metotrexato o fototerapia (AU)

Before initiating treatment with efalizumab, or with any other biological treatment, it is necessary to use objective assessment techniques that allow us to evaluate the activity on course of psoriasis, thus being able to justify the indication of biological therapy and to evaluate the percentage of response to treatment, loss of response or its possible inefficacy. In spite of its limitations, Psoriasis Area and Severity Index (PASI) is the best available option. The definition of moderate psoriasis has been proposed as beginning with a baseline PASI =7 while serious psoriasis has a score of, according to the different authors, 10 or 121 In the usual clinical practice, other parameters must also be evaluated in the definition of the seriousness of psoriasis and in the indication of establishing a systemic treatment since some forms of psoriasis have a more aggressive course (erythrodermicpsoriasis, pustulous psoriasis) and there are locations (head, genitals, hands, etc.) that interfere more intensely with the quality of life of the patients, with increase of social dysfunction, physical incapacity and psychological deterioration 2,3. All of the patients treated with biological therapy in our hospital site fulfill the criteria established by the European Medicines Evaluation Agency (EMEA): adult patients with psoriasis in chronic moderate-to-serious ones who have not responded or in its use is contraindicated or who do not tolerate another systemic therapy, including, cyclosporine, methotrexate or phototherapy (AU)

Paraneoplastic vasculitis associated with multiple myeloma.

The association between vasculitis and cancer has been widely reviewed in recent decades. The existence of malignancies in patients with vasculitis has been estimated at about 4.5-8%, haematological neoplasms being the most frequently observed. The haematological malignancies most frequently described are lymphoproliferative diseases such as hairy cell leukaemia and lymphomas. On the contrary, the incidence of paraneoplastic vasculitis in patients with myeloma is low; up to now, we have found nine cases reported on this subject. We report the case of a 73-year-old woman who in 1 year showed three outbreaks of acutely painful, purpuric and ulceronecrotic lesions, localized on the lower extremities. Histopathological study demonstrated thrombosis in the arterioles and leucocytoclastic vasculitis. Complementary tests revealed the presence of multiple myeloma.

Differential patterns of filaggrin expression in lamellar ichthyosis.

Lamellar ichthyosis (LI) is a rare genetic and congenital disturbance of keratinization that is phenotypically and genotypically heterogeneous. Filaggrin is one of the major components of the stratum corneum situated in the protein matrix and the cornified envelope. In view of the heterogeneity of LI, this study aimed at exploring filaggrin expression in the skin of patients suffering from the disease. Epidermal filaggrin expression was determined using immunohistochemical techniques and Western blot in 12 patients with LI and the findings were compared with those observed in four normal controls and eight patients with ichthyosis vulgaris. With Western blot, six different patterns of filaggrin expression were detected. The patients with similar clinical manifestations showed a similar pattern, as did members of the same family. Overall, higher filaggrin expression in scales correlated with a better prognosis. In patients receiving retinoids no variations in filaggrin expression during treatment were detected. Our results suggest that LI is heterogeneous as regards filaggrin expression. Filaggrin could therefore be used as a prognostic marker as well as being a marker of the basic defect involved in LI.

[Cutaneomucous hyalinosis in monozygotic twins]. / Hyalinose cutanéo-muqueuse chez des jumelles monozygotes.

Two Urbach-Wiethe disease cases in both univitelline twins sisters, 8 years old, are presented. Consanguinity is demonstrated in their parents and we consider this to be the second study of this type described in Spain and the first one in the world with such genetic features. We emphasize the early process apparition--just after birth--clinically characterised only by hoarseness. In consecutive years, both sisters developed varioliform scars on elbows, knees, and forehead and induration of lips on their mucous surface and palpebral margins. The histological and ultrastructural findings superposed in both patient--typical and confirmatory of the clinical picture--are commented as well as present histopathogenetic interpretations.