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Segmental stiff skin syndrome (SSSS) is a rare genetic connective tissue disease, which is often misdiagnosed. High-frequency ultrasonography can represent a useful clinical adjunct in the differential diagnosis of this condition, in conjunction with the clinical and histopathological findings. Treatment options are limited and evidence is scarce. We present the clinical, sonographic and histological features of 5 paediatric patients diagnosed at our institution and we discuss their response to treatment.

Background Adalimumab (ADA) intensification is recommended for inadequate or loss of response in inflammatory bowel disease (IBD) patients. A new presentation of ADA 80mg administered every other week (eow) has been approved as an alternative to ADA 40mg every week (ew). Data regarding impact of ADA 80mg eow in clinical practice is still scarce. The aim of this study was to assess long-term durability, safety and cost-effectiveness of treatment with ADA 80mg eow in patients with IBD. Methods A retrospective cohort study in a tertiary hospital that included all IBD patients under intensified maintenance therapy with ADA 80mg eow was performed. Durability was calculated considering the time from the first dose to treatment withdrawn or to the end of follow-up. Biological remission (BR) was defined as CR together with fecal calprotectin (FC) Results Sixty-three patients (52 CD and 11 CU) were included; median age 47 (IQR 39–59), 54% male; median duration of the disease before ADA of 11 years (IQR 6–20); 30% were active smokers. Among CD patients, 56% had ileal disease, 17% colonic and 27% ileocolonic. The inflammatory behavior was the most frequent (52%) and 31% had perianal disease. In UC, 55% had extensive colitis. 44 patients (70%) were bio-naïve and 36 (57%) received immunosuppressants at baseline. At the time of escalation, 48 patients (76%) were symptomatic. After intensification, 52 (83%) patients (CD 42 and UC 10) achieved CR and 46 (73%) BR. The changes in the levels of FC, CRP and ADA were significant (p 22 patients (35%) discontinued treatment after a median of 6.5 (IQR 5–10) months due to: 11 no clinical response (50%), 4 loss of response (18%), 3 adverse events (14%) (psoriasis) and 4 endoscopic progression (18%). 44 patients (70%) remained under treatment and in CR (median follow-up 17 months, IQR 13–24) (Graph 4) and with a median ADA levels of 10.46 mg/l (IQR 7.34–15.25). Use of ADA 80 eow regimen saved 223500€ in patients who maintained treatment. In the multivariate analysis, being in CR when intensifying reduced the risk of treatment discontinuation by 87% (HR 0.13, 95%CI 0.02–0.99; p Conclusion ADA intensification to 80mg eow in IBD patients is safe, effective and may reduce costs in real life clinical practice. Early intensification, even in CR, may enhance ADA treatment durability.

Resumen: Antecedentes y objetivo: La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios caracterizado por un aumento de la fragilidad mucocutánea. El objetivo del presente estudio es describir las características clínicas y epidemiológicas de los pacientes con EB atendidos en el Hospital Universitario La Paz, centro de referencia nacional para EB hereditaria. Material y método: Estudio observacional, retrospectivo y unicéntrico. Se incluyeron todos los pacientes con diagnóstico clínico y molecular de EB atendidos en el Servicio de Dermatología del Hospital Universitario La Paz desde el 1 de enero de 2000 hasta el 28 de febrero de 2021. Resultados: Se registraron 214 pacientes, con una edad mediana de 17 años (RIQ: 8-32); el 54,2% fueron mujeres. Las formas clínicas correspondieron a EB distrófica con 135 (63,1%) casos, EB simple con 67 (31,3%) casos, EB juntural con ocho (3,7%), EB Kindler con tres (1,4%) casos y EB adquirida con un (0,5%) caso. El 35,5% de los pacientes procedían de Madrid. Las complicaciones clínicas más frecuentes en nuestra serie fueron el prurito (63,1%), las infecciones locales (56,5%) y el dolor (54,7%). Las complicaciones más graves fueron las cardíacas (5,6%) y la aparición de CCE (10,3%). Fallecieron 22 pacientes (10,3%). Conclusiones: La forma clínica predominante fue la EBDR. Las complicaciones más prevalentes fueron el prurito, el dolor y las infecciones, y las más graves, la miocardiopatía y el CCE. Es un estudio pionero realizado en nuestro país que permitirá implementar estrategias para mejorar la situación sociosanitaria de los pacientes con EB. Abstract: Background and objective: Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB. Material and methods: Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital's dermatology department from January 2, 2000, to February 28, 2021. Results: A total of 214 cases were studied. The median (interquartile range) age was 17 (8–32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died. Conclusions: Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.

Summary Background Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer‐prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the role of the stromal microenvironment in the pathology of these disorders. Objectives To investigate, by means of comparative gene expression analysis, the role played by dermal fibroblasts in the pathogenesis of RDEB, KS and XPC. Methods We conducted RNA‐Seq analysis, which included a thorough examination of the differentially expressed genes, a functional enrichment analysis and a description of affected signalling circuits. Transcriptomic data were validated at the protein level in cell cultures, serum samples and skin biopsies. Results Interdisease comparisons against control fibroblasts revealed a unifying signature of 186 differentially expressed genes and four signalling pathways in the three genodermatoses. Remarkably, some of the uncovered expression changes suggest a synthetic fibroblast phenotype characterized by the aberrant expression of extracellular matrix (ECM) proteins. Western blot and immunofluorescence in situ analyses validated the RNA‐Seq data. In addition, enzyme‐linked immunosorbent assay revealed increased circulating levels of periostin in patients with RDEB. Conclusions Our results suggest that the different causal genetic defects converge into common changes in gene expression, possibly due to injury‐sensitive events. These, in turn, trigger a cascade of reactions involving abnormal ECM deposition and underexpression of antioxidant enzymes. The elucidated expression signature provides new potential biomarkers and common therapeutic targets in RDEB, XPC and KS. What's already known about this topic? Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three genodermatoses with high predisposition to cancer development.Although their causal genetic mutations mainly affect epithelia, the dermal microenvironment likely contributes to the physiopathology of these disorders. What does this study add? We disclose a large overlapping transcription profile between XPC, KS and RDEB fibroblasts that points towards an activated phenotype with high matrix‐synthetic capacity.This common signature seems to be independent of the primary causal deficiency, but reflects an underlying derangement of the extracellular matrix via transforming growth factor‐β signalling activation and oxidative state imbalance. What is the translational message? This study broadens the current knowledge about the pathology of these diseases and highlights new targets and biomarkers for effective therapeutic intervention.It is suggested that high levels of circulating periostin could represent a potential biomarker in RDEB., Linked Comment: https://doi.org/10.1111/bjd.18104. https://doi.org/10.1111/bjd.18271 available online

Cutaneous squamous cell carcinoma (cSCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). We provide the management and prognosis of cSCC in RDEB patients at a Spanish reference center. We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018. Fourteen patients developed at least one cSCC. Tumors were predominantly well differentiated. Nearly half of the tumors have recurred. Median time to first recurrence was 23.4 months (95% CI: 17.2–29.5). Five patients have developed distant metastases. Median overall survival (mOS) was 136.5 months since the diagnosis of the first cSCC (95% CI: 30.6–242.3). When distant metastases occurred, mOS was 6.78 months (95% CI: 1.94–11.61). cSCC is a life-threatening complication of RDEB patients. Although tumors are usually well differentiated, they tend to relapse. This is the first Spanish report of cSCC arising in RDEB patients.

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB.Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital's dermatology department from January 2, 2000, to February 28, 2021.A total of 214 cases were studied. The median (interquartile range) age was 17 (8-32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died.Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.

Background and objective Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by a high degree of mucocutaneous fragility. This study aimed to describe the clinical and epidemiologic characteristics of patients with EB treated in Hospital Universitario La Paz, a national referral center for inherited EB. Material and methods Observational, retrospective, single-center study. We included all cases with a clinical and molecular diagnosis of EB managed in the hospital’s dermatology department from January 2, 2000, to February 28, 2021. Results A total of 214 cases were studied. The median (interquartile range) age was 17 (8–32) years; 54.2% were women. One hundred thirty-five (63.1%) patients had dystrophic EB, 67 (31.3%) had EB simplex, 8 (3.7%) had junctional EB, and 3 (1.4%) had Kindler syndrome. One (0.5%) had EB acquisita. Over a third (35.5%) of the patients resided in Madrid. The most common clinical complications were pruritus (63.1%), local infections (56.5%), and pain (54.7%). The most serious ones were cardiomyopathy (in 5.6%) and squamous cell carcinoma (10.3%). Twenty-two patients (10.3%) died. Conclusions Dystrophic EB was the most prevalent clinical form. The most prevalent complications were pruritus, pain, and infections. The most serious ones were cardiomyopathy and squamous cell carcinoma. This study is the first in Spain that explores strategies for improving the health status and quality of life of patients with EB.

Reports on COVID‐19 in children are limited. Despite new data emerging, and understanding of the disease improves rapidly, there are as yet several features and complications related to the disease that remain unknown. Herein, we report the first case of a child with chilblains and retinal vasculitis related to COVID‐19.

Resumen El granuloma aseptico facial idiopatico es una entidad propia de la infancia que se caracteriza por la presencia de uno o varios nodulos asintomaticos en la mejilla. Aunque su patogenia no esta clara, se ha sugerido que pueda pertenecer al espectro de la rosacea infantil. Resuelve espontaneamente pero puede plantear dudas diagnosticas con otras lesiones que si requieren tratamiento. Presentamos los hallazgos clinicos y ecograficos y la evolucion, tanto clinica y ecografica, de 3 nuevos casos. En 2 pacientes, la lesion se presento en el contexto de una rosacea infantil. En ecografia, el granuloma aseptico facial idiopatico mostro un patron caracteristico, con variaciones en funcion del momento evolutivo. La ecografia de alta frecuencia puede facilitar el diagnostico diferencial, evitando biopsias o extirpaciones innecesarias.

Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers.

Resumen La epidermolisis bullosa distrofica es una enfermedad hereditaria rara debida a mutaciones del gen COL7A1. Su variante recesiva (EBDR) se caracteriza por una marcada disminucion o ausencia completa de colageno tipo VII (C7), que da lugar a una marcada fragilidad de la piel y las mucosas, desencadenando la formacion de ampollas de forma espontanea o en respuesta a minimos traumatismos. Son muy pocos los casos descritos en la literatura de esta enfermedad en embarazadas. Exponemos 2 casos de gestantes, ambas afectadas de EBDR, y su manejo en nuestra Unidad de Obstetricia de Alto Riesgo del Hospital Universitario La Paz. En ambos casos se realizo una cesarea a termino, finalizando la gestacion sin complicaciones mayores para la madre o el feto. A pesar de relacionarse con un mayor numero de complicaciones maternas, la EBDR no representa una contraindicacion para la gestacion, y con un control adecuado, estas pacientes pueden ver su deseo genesico cumplido.

espanolLos pies representan una zona anatomica muy especial. Se encuentran sometidos a constantes traumatismos en cada paso que damos y ademas sufren la oclusion, la sudo racion y la friccion constante del calzado. La patologia dermatologica que afec- ta a los pies es superponible a la que encontramos en otras localizaciones; sin embar- go, existen algunas patologias que tienen predileccion o caracteristicas especiales, como por ejemplo las verrugas plantares. Ademas, tienen una mayor repercusion en la calidad de vida de los pacientes, ya que afectan a la marcha y por lo tanto a la movi- lidad. Un problema asociado que suelen tener los pacientes es a quien acudir, ya que las enfermedades del pie no estan del todo delimitadas y por ello existen diferentes especialistas que comparten y manejan dicha patologia. EnglishThe feet are a very special anatomical area. With every step we take, they are con- stantly subject of different traumas, apart from the continuous occlusion, sweating and friction with the shoes. The dermatological disorders affecting the feet is similar to that affecting other parts of the body; Nevertheless, there are many pathologies which are more likely to take place on the feet or have special characteristics such as the plantar warts. Besides, this has a direct effect on patients' quality of life, provided that it affects their ability to walk and, therefore, their mobility. A recurring associat- ed problem raised by the patients is that they do not know who to resort to for help, since the feet pathology is not clearly delimited and therefore there are different professionals that share and manage such pathology.

Background Current therapeutic goals in Crohn’s disease (CD) include not only the mere absence of symptoms but also the objective resolution of macroscopic lesions, so-called deep remission (DR), which has been related to better outcomes. DR is usually acknowledged by endoscopy, although magnetic resonance (MR) or intestinal ultrasound (IUS) are also reliable, provide extramucosal information and may be more appropriate in certain clinical scenarios. Data regarding the achievement of DR with ustekinumab in real-life clinical practice is still scarce. Methods Retrospective cohort study carried out in a tertiary hospital between April 2017 and April 2019 including patients who had clinically active CD (Harvey–Bradshaw index [HBI] ≥ 4) objectively assessed by either endoscopy, MR or IUS; received intravenous induction with ustekinumab, had achieved clinical remission and had treatment response assessed by either endoscopy, MR or IUS. DR was defined by SES-CD 0–3 or Rutgeerts index i0 if endoscopically assessed, or by complete normalisation of inflammatory parameters on cross-sectional imaging. Endoscopic response was defined by the decrease of SES-CD of 50% compared with baseline. Radiographic response was defined by improvement in bowel wall thickness, inflammatory fat, mural blood flow and hyperenhancement compared with baseline imaging by physician global assessment. Demographics, clinical data and information regarding ustekinumab treatment were collected. Results 90 patients treated with ustekinumab at our centre were analyzed, but only 28 met inclusion criteria (14(50%) female; median age 45 (43–50)) with a median follow-up of 19 (IQR: 15–23) months. All of them had previously failed to antiTNFα and 20 (71%) failed to ≥2 biologics. Treatment response assessment was made by endoscopy (22 cases; 79%) or cross-sectional imaging technique (6 cases; 21%) in a median time of 10 months (IQR: 7–13) from the start of treatment. Deep remission was achieved in 18 (64%) patients. Endoscopic response was achieved in 5 (18%) additional patients. Five (18%) remaining patients obtained no objective response to ustekinumab despite being in clinical remission. Patients who had received prior treatment with ≥2 biologics or those classified as B2 or B3 according to Montreal Classification were less likely to achieve deep remission, although those associations did not reach statistical significance. Conclusion In our experience, a majority of refractory CD patients who achieved clinical remission with ustekinumab also reached deep remission assessed by either endoscopy, MR or IUS.

Resumen Antecedentes En situaciones clinicas dificiles de psoriasis moderada y grave la informacion sobre las estrategias terapeuticas mas adecuadas es insuficiente. Material y metodos Se plantearon 5 escenarios: psoriasis pediatrica, infecciones en pacientes tratados con biologicos, localizaciones dificiles, supervivencia de las terapias biologicas e impacto en la calidad de vida, identificando aquellas cuestiones en las que la evidencia era controvertida o insuficiente. Tras la discusion con un grupo de dermatologos expertos en el manejo de la psoriasis moderada-grave, se llevo a cabo un cuestionario que fue implementado segun la metodologia Delphi. Resultados Se alcanzo el consenso en 66 de los 93 items finales planteados (70,9%) (49 en el acuerdo, 17 en el desacuerdo). Se acordo la conveniencia de incorporar la evaluacion del indice de masa corporal, las comorbilidades metabolicas y la medicion de la calidad de vida en el seguimiento de la psoriasis infantil. En este grupo de edad, el metotrexato y el etanercept se consideraron las mejores opciones de tratamiento sistemico y biologico, respectivamente. Aunque la evidencia cientifica se interpreto como heterogenea y de dificil extrapolacion, se consensuo que la individualizacion y la flexibilidad en las dosis, el tratamiento continuo y las combinaciones terapeuticas incrementaban la supervivencia del farmaco. Se acordo la conveniencia de incorporar el indice de calidad de vida en dermatologia como marcador de eficacia terapeutica y en la toma de decisiones en la practica clinica. Conclusiones La opinion estructurada de los expertos contribuye en la toma de decisiones en aquellos aspectos en los que la informacion disponible es incompleta o contradictoria.

Background There is insufficient information on how best to treat moderate to severe psoriasis in difficult clinical circumstances. Material and methods We considered 5 areas where there is conflicting or insufficient evidence: pediatric psoriasis, risk of infection in patients being treated with biologics, psoriasis in difficult locations, biologic drug survival, and impact of disease on quality of life. Following discussion of the issues by an expert panel of dermatologists specialized in the management of psoriasis, participants answered a questionnaire survey according to the Delphi method. Results Consensus was reached on 66 (70.9%) of the 93 items analyzed; the experts agreed with 49 statements and disagreed with 17. It was agreed that body mass index, metabolic comorbidities, and quality of life should be monitored in children with psoriasis. The experts also agreed that the most appropriate systemic treatment for this age group was methotrexate, while the most appropriate biologic treatment was etanercept. Although it was recognized that the available evidence was inconsistent and difficult to extrapolate, the panel agreed that biologic drug survival could be increased by flexible, individualized dosing regimens, continuous treatment, and combination therapies. Finally, consensus was reached on using the Dermatology Quality of Life Index to assess treatment effectiveness and aid decision-making in clinical practice. Conclusions The structured opinion of experts guides decision-making regarding aspects of clinical practice for which there is incomplete or conflicting information.

Background Current therapeutic goals in inflammatory bowel disease (IBD) include not only the mere absence of symptoms but also the resolution of endoscopic lesions, so-called mucosal healing (MH), which has been related to better outcomes. Data regarding the achievement of MH with vedolizumab (VDZ) in real-life clinical practice is still scarce. Methods Retrospective cohort study was carried out in a tertiary hospital between January 2015 and April 2019 including patients with a basal colonoscopy showing activity and who achieved clinical remission under treatment with VDZ, defined by partial Mayo score Results In total, 118 patients treated with VDZ were analysed, but only 45 met inclusion criteria with a median follow-up of 21 (IQR: 14–19) months. Surveillance colonoscopy was performed after a median time of 12 months (IQR:9–17) of treatment. MH achieved in 33/45 patients (73%): 17/23 CD patients (74%) and 16/22 UC patients (73%). The endoscopic response was achieved in 9 of the remaining 12 patients: 3/6 CD patients and 6/6 UC patients. Only 3 (7%) of patients included showed no endoscopic benefit at the time of surveillance endoscopy. In multivariate analysis, probability of not achieving MH was 75% in patients previously treated with immunosuppressants (ISS) (HR 0.25, 0.11–0.55 IC95; p = 0.001) and 60% in patients previously treated with anti-TNFα (HR 0.40, 0.18–0.90 95% CI; p = 0.026). Type of IBD, concomitant ISS, corticosteroid use at induction, baseline endoscopy score or duration of disease before VDZ treatment were not associated with the achievement of MH. Conclusion In our experience, most of the patients who achieve clinical remission with VDZ also achieve MH. Refractory patients were less likely to achieve MH despite having achieved clinical remission.

Idiopathic facial aseptic granuloma is a typical childhood disease characterized by the presence of one or more asymptomatic nodules on the cheek. Although pathogenesis remains unclear, the disease is thought to be a type of childhood rosacea. It resolves spontaneously, yet it could be confused with other lesions that require treatment. We present clinical and ultrasound findings and outcome from 3 new cases. In 2 cases, the lesion presented as childhood rosacea. Ultrasound revealed a characteristic pattern, with variations depending on the stage of development. High-frequency ultrasound can facilitate the differential diagnosis and thus obviate unnecessary biopsy or excision.

Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers.

Hidradenitis suppurativa usually develops in the third decade of life and is infrequent in children and adolescents. This article reviews the scant epidemiological clinical and therapeutic data that are available for this age group. From the epidemiological point of view, reports have been more numerous in children, which has been related to hormone alterations and with a possibly higher genetic load than when this disease develops in adults. Clinically, it seems that when hidradenitis suppurativa develops in young patients, there is greater disease extension. The therapeutic approach is especially complex, since there is hardly any scientific evidence to serve as a basis for decisions. The challenges posed by this disease are to help patients accept their disease, recommend them healthy lifestyle habits and choose the most appropriate treatment for each patient.

Resumen Introduccion y objetivos Conocer, desde la perspectiva del paciente, los desencadenantes de la dermatitis atopica (DA), el grado de control percibido y el cumplimiento de las indicaciones medicas y su calidad de vida relacionada con la salud (CVRS). Pacientes y metodos Estudio epidemiologico, transversal, multicentrico incluyendo pacientes adultos (> 16 anos; n = 125) y pediatricos (entre 2-15 anos; n = 116) con DA de intensidad moderada-grave, mas de 12 meses de evolucion y con episodios de lesiones activas moderados-graves (escala de evaluacion global del investigador [IGA] > 2). Se analizaron los desencadenantes informados por los pacientes, el cumplimiento de las recomendaciones y el tratamiento farmacologico (TF), las diferencias en CVRS y el control percibido (U de Mann-Whitney) segun la gravedad de la DA (indice SCORAD-SCORing Atopic Dermatitis). Resultados Los desencadenantes mas frecuentes fueron: cosmeticos, ropa, acaros, detergentes/jabones y cambios de temperatura. El 47,2% de los pacientes adultos y el 39,7% de los pediatricos no aplicaban el TF desde el inicio del episodio. El TF, la hidratacion y los consejos medicos de cuidado fueron las recomendaciones mas seguidas. El 41,6 y el 27,6% (adultos y pediatricos, respectivamente) consideraba que su grado de control era insuficiente y se asocio con la gravedad de la DA en adultos (p = 0,014). Conclusiones El grado de control actual de la DA es mejorable, especialmente en adultos. Aunque los pacientes indican seguir las recomendaciones medicas, un porcentaje significativo no aplica correctamente los tratamientos. Parece necesario potenciar la educacion sobre la enfermedad y su manejo para mejorar el grado de control y potenciar su CVRS.

Introduction and objectives: To analyze the triggers of atopic dermatitis (AD), adherence to medical recommendations, disease control, and health-related quality of life (HRQOL) from the patient’s perspective. Patients and methods: This was a multicenter, cross-sectional, epidemiological study with the participation of adults (age > 16 years; n = 125) and children (age, 2-15 years, n = 116). Patients had a history of at least 12 months of moderate to severe AD with a moderate to severe flare (Investigator Global Assessment score > 2) at the time of recruitment. The Mann-Whitney U test was used to evaluate relationships between disease severity, determined according to the Scoring in Atopic Dermatitis index, and triggers reported by patients, adherence to recommendations and pharmacological therapy, HRQOL, and patient-perceived control. Results: The most common triggers were cosmetic products, clothing, mites, detergents/soaps, and changes in temperature. In 47.2% of adults and 39.7% of children, pharmacological therapy was not initiated at flare onset. Adherence was highest to pharmacological therapy, skin

Resumen El dia 22 de junio de 2012 se celebro en el Hospital Nino Jesus la I Jornada de expertos en ictiosis, una jornada monografica dirigida a dermatologos, pediatras y medicos en formacion interesados en esta enfermedad, asi como al resto de profesionales sanitarios que participan en su atencion. El objetivo de la l Jornada de expertos en ictiosis fue intentar estructurar la atencion de los pacientes con ictiosis en Espana. Como ocurre con el resto de las enfermedades raras, su escasa prevalencia y la ausencia de centros de referencia formales diluyen el numero de pacientes atendidos en cada centro, y pocos dermatologos tienen verdadera experiencia clinica o conocen la manera de solicitar diagnostico genetico. En este articulo se resumen las ponencias expuestas en la Jornada para consulta de aquellas personas interesadas en el tema.

On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Nino de Jesus 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.

a Departamento de Dermatologia, Hospital Infantil del Nino Jesus, Madrid, Spain b Departamento de Dermatologia, Hospital La Paz, Madrid, Spain c Departamento de Dermatologia, Hospital Sant Joan de Deu, Barcelona, Spain d Departamento de Dermatologia, Hospital Santa Creu y Sant Pau, Barcelona, Spain e Director of DeBRA, Spain f Enfermera del Centro de Referencia Estatal de Atencion a personas con Enfermedades Raras y sus familias, Burgos, Spain g Instituto de Investigacion de Enfermedades Raras. Instituto de Salud Carlos III, Madrid, Spain loaded from http://www.actasdermo.org, day 10/05/2016. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited.

There is insufficient information on how best to treat moderate to severe psoriasis in difficult clinical circumstances.We considered 5 areas where there is conflicting or insufficient evidence: pediatric psoriasis, risk of infection in patients being treated with biologics, psoriasis in difficult locations, biologic drug survival, and impact of disease on quality of life. Following discussion of the issues by an expert panel of dermatologists specialized in the management of psoriasis, participants answered a questionnaire survey according to the Delphi method.Consensus was reached on 66 (70.9%) of the 93 items analyzed; the experts agreed with 49 statements and disagreed with 17. It was agreed that body mass index, metabolic comorbidities, and quality of life should be monitored in children with psoriasis. The experts also agreed that the most appropriate systemic treatment for this age group was methotrexate, while the most appropriate biologic treatment was etanercept. Although it was recognized that the available evidence was inconsistent and difficult to extrapolate, the panel agreed that biologic drug survival could be increased by flexible, individualized dosing regimens, continuous treatment, and combination therapies. Finally, consensus was reached on using the Dermatology Quality of Life Index to assess treatment effectiveness and aid decision-making in clinical practice.The structured opinion of experts guides decision-making regarding aspects of clinical practice for which there is incomplete or conflicting information.

Patellar tumours are rare. They typically appear in young patients, and present with a non-specific pain in the knee. Giant cell tumour (GCT) are benign, but locally aggressive. Although they are usually found around the knee (40-60%), those affecting the patella have been classically described in the literature as uncommon. We describe the case of a 19 year old male complaining of pain in his knee, whose clinical examination suggested a meniscal tear. Plain radiological examination, as well as MRI, revealed a well circumscribed lytic lesion within the patella. The patient underwent arthroscopic surgery, during which an incisional biopsy was performed. Following pathology reports, which confirmed the suspected GCT, definitive surgery was performed. At 56 months after the surgery the patient remains asymptomatic and free of disease.

Resumen Los tumores en la rotula son poco frecuentes. Suelen afectar a pacientes jovenes y se presentan como dolor inespecifico en la rodilla. El tumor de celulas gigantes (TCG) del hueso es un tumor benigno, pero localmente agresivo. Aunque la localizacion alrededor de la rodilla es muy frecuente, llegando a ser de hasta el 40-60%, la afectacion de la rotula se ha descrito clasicamente en la literatura como casos aislados. Presentamos el caso de un varon de 19 anos de edad, que acude a nuestra consulta presentando clinica meniscal. En el estudio radiologico se descubre de forma incidental una lesion litica en la patela. Tras el estudio mediante resonancia magnetica nuclear (RMN), se confirma el caracter benigno de la lesion, y en el mismo acto quirurgico extraemos una biopsia incisional de la rotula. El estudio histologico confirma la sospecha de TCG, por lo que en un segundo tiempo quirurgico se realiza el tratamiento definitivo. El paciente a los 56 meses de la intervencion esta asintomatico y libre de enfermedad.