Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.

Juvenile Dermatomyositis: Key Roles of Muscle Magnetic Resonance Imaging and Early Aggressive Treatment. / La resonancia magnética muscular y el tratamiento agresivo precoz, claves en la dermatomiositis juvenil.

Juvenile dermatomyositis is a rare systemic connective tissue disease with onset during childhood. It presents clinically with proximal muscle weakness and characteristic skin involvement. Diagnosis is based on the Bohan and Peter criteria, though many authors are now substituting biopsy with muscle magnetic resonance imaging (MRI) for both diagnosis and follow-up. Without intensive early treatment, complications such as calcinosis cutis and lipodystrophy can develop in the chronic phases of the disease. Early recognition is therefore key to management. We present a series of 5 patients who were diagnosed with Juvenile dermatomyositis on muscle MRI without undergoing muscle biopsy and who received early treatment. We draw attention to the usefulness of muscle MRI for the diagnosis of muscle involvement and to the importance of early initiation of intensive treatment to prevent complications.

Liquen aureus: ¿un caso congénito? / Lichen Aureus: A Congenital Case?

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Dermoscopic Findings of Jellyfish Stings Caused by Pelagia noctiluca / Dermatoscopia de las picaduras de medusa causadas por Pelagia noctiluca

BACKGROUND AND OBJECTIVES: Jellyfish are free-living members of the phylum Cnidaria who share a specialized stinging cell, the cnidocyte. Pelagia noctiluca is the most frequent and toxic jellyfish species found in the Balearic beaches and cnidocytes are arranged in pigmented clusters called 'warts'. Dermoscopy continues to expand its use much beyond the pigmentary lesions and to date, there is no data regarding dermoscopic findings in jellyfish stings. The aim of the present work was to study the dermoscopic findings of jellyfish stings in the island of Mallorca. PATIENTS AND METHODS: We retrospectively reviewed the clinical and dermoscopic images of 25 episodes of jellyfish stings caused by P. noctiluca that occurred between 2009 and 2015. RESULTS: Overall, the following dermoscopic features were found: brown dots (84%), pinkish hue (56%), pinpoint brown crusts (44%), scale-crust (40%), brown 'Chinese characters pattern' (32%), 'serpentine' ulceration (28%), linear purpura (20%), and whitish-yellow crusts (15%). Vessels were mainly dotted (36%) or reticular (16%). Scale-crust, serpentine ulceration and pinkish hue were significantly more frequent in lesions older than 2 days. Conclusions and limitations: Our study identifies 4 dermoscopic features that may represent the contact with P. noctilucacnidocytes: brown dots, brown 'Chinese characters pattern', pinpoint brown crusts and whitish-yellow crusts. A peculiar finding of 'serpentine ulceration' with brown dots would be very suggestive of P. noctiluca sting. We believe dermoscopy is a valuable tool in the diagnosis of jellyfish stings when a clear history of contact is lacking. Further studies are needed to validate our findings in other jellyfish species

INTRODUCCIÓN Y OBJETIVOS: Las medusas son miembros del phylum Cnidaria que comparten una célula urticante especializada, el cnidiocito. En Baleares, Pelagia noctiluca es la medusa más frecuente y tóxica. En ella los cnidiocitos se encuentran en agrupaciones pigmentadas llamadas 'verrugas'. La dermatoscopia continúa ampliando su uso más allá de las lesiones pigmentadas, pero hasta la fecha no se ha utilizado en el diagnóstico de las picaduras de medusa. El objetivo del presente trabajo es estudiar los hallazgos dermatoscópicos en esta patología en la isla de Mallorca. PACIENTES Y MÉTODOS: Revisamos retrospectivamente las imágenes clínicas y dermatoscópicas de 25 episodios de picaduras de medusa por P. noctiluca entre 2009 y 2015. RESULTADOS: Se encontraron las siguientes imágenes: puntos marrones (84%), tono rosado (56%), costras marrones puntiformes (44%), escamocostra (40%), patrón en 'letras chinas' marrones (32%), ulceración 'en serpentina' (28%), púrpura lineal (20%) y costras blancoamarillentas (15%). Los vasos fueron puntiformes (36%) o reticulares (16%). La escamocostra, la ulceración en serpentina y el tono rosado fueron significativamente más frecuentes en las lesiones de más de 2días de duración. Conclusiones y limitaciones: Nuestro estudio identificó 4 imágenes dermatoscópicas debidas al contacto con los cnidiocitos: puntos marrones, patrón en 'letras chinas' marrones, costras marrones puntiformes y costras blancoamarillentas. La combinación de ulceración 'en serpentina' y puntos marrones sería muy sugestiva de picadura por P. noctiluca. La dermatoscopia es una herramienta útil en el diagnóstico de las picaduras de medusas, en ausencia del antecedente de contacto con ellas. Se necesitan más estudios para validar estos hallazgos en picaduras por otras especies de medusa

Dermoscopic Findings of Jellyfish Stings Caused by Pelagia noctiluca.

BACKGROUND AND OBJECTIVES: Jellyfish are free-living members of the phylum Cnidaria who share a specialized stinging cell, the cnidocyte. Pelagia noctiluca is the most frequent and toxic jellyfish species found in the Balearic beaches and cnidocytes are arranged in pigmented clusters called "warts". Dermoscopy continues to expand its use much beyond the pigmentary lesions and to date, there is no data regarding dermoscopic findings in jellyfish stings. The aim of the present work was to study the dermoscopic findings of jellyfish stings in the island of Mallorca. PATIENTS AND METHODS: We retrospectively reviewed the clinical and dermoscopic images of 25 episodes of jellyfish stings caused by P. noctiluca that occurred between 2009 and 2015. RESULTS: Overall, the following dermoscopic features were found: brown dots (84%), pinkish hue (56%), pinpoint brown crusts (44%), scale-crust (40%), brown "Chinese characters pattern" (32%), "serpentine" ulceration (28%), linear purpura (20%), and whitish-yellow crusts (15%). Vessels were mainly dotted (36%) or reticular (16%). Scale-crust, serpentine ulceration and pinkish hue were significantly more frequent in lesions older than 2 days. CONCLUSIONS AND LIMITATIONS: Our study identifies 4 dermoscopic features that may represent the contact with P. noctiluca cnidocytes: brown dots, brown "Chinese characters pattern", pinpoint brown crusts and whitish-yellow crusts. A peculiar finding of "serpentine ulceration" with brown dots would be very suggestive of P. noctiluca sting. We believe dermoscopy is a valuable tool in the diagnosis of jellyfish stings when a clear history of contact is lacking. Further studies are needed to validate our findings in other jellyfish species.

Quality of Life and Side Effects in Patients with Actinic Keratosis Treated With Ingenol Mebutate: A Pilot Study / Calidad de vida y efectos secundarios en los pacientes con queratosis actínica tratados con ingenol mebutato-estudio pilot

INTRODUCTION: Actinic keratosis (AK) lesions are in situ squamous cell carcinoma. These lesions have a low risk of progressing to invasive disease but significant impact on patients' quality of life (QoL). The aim of this study was to assess QoL and side effects in patients with AK receiving treatment with ingenol mebutate. MATERIAL AND METHODS: This was a prospective, non-randomized pilot study carried out in Spain. The target population was adults with a clinical diagnosis of AK affecting any part of the body. Outcomes were assessed on the basis of a QoL questionnaire (Skindex-29), local skin response, the Treatment Satisfaction Questionnaire for Medication (TSQM 1.4), and clinical response. RESULTS: A total of 19 patients were studied. Most of the participants were men (89.5%) and mean age was 76.2 years. After treatment with ingenol mebutate, significant improvement was observed in the Skindex-29 subscales relating to symptom severity (P=.041), the patients' emotional state (P=.026), and in the overall score (P=.014). Erythema, crusting, and flaking or scaling were the local skin responses with highest median score (2.0 in all 3 cases). Imiquimod 5% and ingenol mebutate achieved higher median scores for effectiveness and global satisfaction than any other previous treatments (as measured by TSQM 1.4). In the patients' assessment of convenience, ingenol mebutate had a higher median score than previous treatments. Over half of the patients (52.6%) had an improvement of at least 75% at month 3. CONCLUSIONS: QoL in patients with AK improves after treatment with ingenol mebutate. The presence of side effects did not affect QoL or patient satisfaction with treatment

INTRODUCCIÓN: Las queratosis actínicas (QA) se consideran carcinomas espinocelulares "in situ" con poca capacidad invasiva pero con un impacto significativo en la calidad de vida (CV). El objetivo fue evaluar la CV y los efectos secundarios de ingenol mebutato (IM) en pacientes con QA. MATERIAL Y MÉTODOS: Estudio piloto, prospectivo, no aleatorizado, en pacientes >18 años, con diagnóstico clínico de QA de cualquier localización. Se valoraron: la CV, mediante el cuestionario Skindex- 29; la satisfacción con el tratamiento mediante el cuestionario TSQM 1.4; la respuesta clínica, y la reacción cutánea local (RCL). RESULTADOS: Se incluyeron 19 pacientes, el 89,5% eran hombres, con una edad media 76,2 años. Después del tratamiento con IM, se observó una mejoría significativa en las subescalas del Skindex-29 (emocional y sintomática) y en la puntuación global (p = 0,026, p = 0,041 y p = 0,014), respectivamente). Al día 3-4, el eritema, la costra y la descamación fueron las RCLs con una mediana de puntuación más alta (2,0, en los 3 casos). La efectividad y la satisfacción global (según TSQM 1,4) presentaron puntuaciones medianas más altas con imiquimod 5% e IM comparado con los otros tratamientos previos. La valoración de la conveniencia mostró una puntuación más alta en IM comparado con los otros tratamientos previos. Más de la mitad de pacientes (52,6%) lograron una mejoría ≥75% al tercer mes. CONCLUSIONES: La CV en pacientes con QA mejora después del tratamiento con IM. La presencia de efectos secundarios no afecta ni a la CV ni a la satisfacción de los pacientes con el tratamiento

Quality of life and side effects in patients with actinic keratosis treated with ingenol mebutate: a pilot study.

INTRODUCTION: Actinic keratosis (AK) lesions are in situ squamous cell carcinoma. These lesions have a low risk of progressing to invasive disease but significant impact on patients' quality of life (QoL). The aim of this study was to assess QoL and side effects in patients with AK receiving treatment with ingenol mebutate. MATERIAL AND METHODS: This was a prospective, non-randomized pilot study carried out in Spain. The target population was adults with a clinical diagnosis of AK affecting any part of the body. Outcomes were assessed on the basis of a QoL questionnaire (Skindex-29), local skin response, the Treatment Satisfaction Questionnaire for Medication (TSQM 1.4), and clinical response. RESULTS: A total of 19 patients were studied. Most of the participants were men (89.5%) and mean age was 76.2 years. After treatment with ingenol mebutate, significant improvement was observed in the Skindex-29 subscales relating to symptom severity (P=.041), the patients' emotional state (P=.026), and in the overall score (P=.014). Erythema, crusting, and flaking or scaling were the local skin responses with highest median score (2.0 in all 3 cases). Imiquimod 5% and ingenol mebutate achieved higher median scores for effectiveness and global satisfaction than any other previous treatments (as measured by TSQM 1.4). In the patients' assessment of convenience, ingenol mebutate had a higher median score than previous treatments. Over half of the patients (52.6%) had an improvement of at least 75% at month 3. CONCLUSIONS: QoL in patients with AK improves after treatment with ingenol mebutate. The presence of side effects did not affect QoL or patient satisfaction with treatment.

Fibrosis mediastínica idiopática asociada a hipercoagulabilidad. A propósito de un caso / Idiopatic mediastinal fibrosis in association with hypercoagulability state. A case report

La fibrosis mediastínica es una entidad de baja frecuencia y de etiología desconocida en la mayor parte de los casos. Se caracteriza por la presencia de una masa fibrótica en el mediastino que puede invadir estructuras vecinas tales como el esófago, la tráquea, el nervio recurrente, la vena cava superior etc. Solamente un 1-2 por ciento de pacientes con fibrosis mediastínica presentan un cuadro de obstrucción de vena cava superior, y esta es producida en casi todos los casos por compresión extrínseca por el magma fibrótico. Se presenta el caso de un paciente con un trastorno de hipercoagulabilidad asociado a fibrosis mediastínica con obstrucción de la vena cava superior por trombosis (mecanismo intrínseco) así como su evolución satisfactoria tras el tratamiento combinado con anticoagulación oral y tamoxifeno (AU)

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[Idiopathic mediastinal fibrosis associated with hypercoagulability: a case report]. / Fibrosis mediastínica idiopática asociada a hipercoagulabilidad. A propósito de un caso.

Mediastinal fibrosis is a rare and unknown disease characterized by the presence of a fibrotic mass in the anterior mediastinum that can invade close structures as gullet, trachea, recurrent nerve, superior cava vein etc. Only 1-2% of patients with mediastinal fibrosis associate superior cava vein obstruction. When it appears, it is produced by extrinsic compression for fibrotic magma in almost all the cases. A case of hypercoagulability disorder associated with mediastinal fibrosis and superior cava vein obstruction by thrombosis (intrinsec mechanism), and the satisfactory evolution after the treatment with oral anticoagulation, corticosteroids and tamoxifen is presented.