Malformación capilar del síndrome CLAPO exitosamente tratado con láser de colorante pulsado / Capillary Malformation in CLAPO Syndrome Successfully Treated with Pulsed Dye Laser

El síndrome Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth (CLAPO) es una entidad recientemente descrita, con muy pocos casos publicados en la literatura, y sin tratamiento estandarizado. El objetivo de nuestro estudio fue evaluar la eficacia y seguridad del láser de colorante pulsado (PDL) en los pacientes con este síndrome. Tratamos a siete pacientes con dos a cuatro sesiones de PDL a longitud de onda de 595 nm. La terapia láser fue realizada utilizando un tamaño de spot de 7 a 10 mm, una duración del pulso de 0,5 a 1,5 ms, y una fluencia de 6 a 8 J/cm2. Se realizaron fotografías clínicas antes del tratamiento y tres semanas tras el procedimiento. La supresión del eritema fue > 75% en cuatro pacientes. La púrpura transitoria estuvo presente en todos los pacientes durante alrededor de dos semanas, presentando un paciente con hipopigmentación postinflamatoria. A modo de conclusión consideramos que el PDL parece ser un tratamiento seguro y efectivo para las malformaciones capilares propias del síndrome CLAPO. Se logró una notable reducción del eritema en todos los pacientes, con baja incidencia de efectos secundarios (AU)

CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth) is a recently described entity, with very few published cases in the literature, and no standardized treatment. The objective of our study was to assess the efficacy and safety of PDL in patients with this syndrome. Seven patients were treated with two to four sessions of PDL at 595-nm wavelength. Laser therapy was performed using a spot size of 7 to 10 mm, a pulse duration of 0,5 to 1,5 ms and a fluence from 6 to 8 J/cm2. Clinical photographs were taken before treatment and 3 weeks after procedure. Clearance of the erythema was > 75% in 4 patients. Transient purpura was present in all patients for about 2 weeks and 1 patient presented post inflammatory hypopigmentation. In conclusion we consider that PDL seems to be a safe and effective treatment for capillary malformations of the CLAPO syndrome. A marked reduction in erythema was achieved in all patients with a low incidence of side effects (AU)

[Translated article] Capillary Malformation in CLAPO Syndrome Successfully Treated with Pulsed Dye Laser / Malformación capilar del síndrome CLAPO exitosamente tratado con láser de colorante pulsado

CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth) is a recently described entity, with very few published cases in the literature, and no standardized treatment. The objective of our study was to assess the efficacy and safety of PDL in patients with this syndrome. Seven patients were treated with two to four sessions of PDL at 595-nm wavelength. Laser therapy was performed using a spot size of 7 to 10 mm, a pulse duration of 0,5 to 1,5 ms and a fluence from 6 to 8 J/cm2. Clinical photographs were taken before treatment and 3 weeks after procedure. Clearance of the erythema was > 75% in 4 patients. Transient purpura was present in all patients for about 2 weeks and 1 patient presented post inflammatory hypopigmentation. In conclusion we consider that PDL seems to be a safe and effective treatment for capillary malformations of the CLAPO syndrome. A marked reduction in erythema was achieved in all patients with a low incidence of side effects (AU)

El síndrome Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth (CLAPO) es una entidad recientemente descrita, con muy pocos casos publicados en la literatura, y sin tratamiento estandarizado. El objetivo de nuestro estudio fue evaluar la eficacia y seguridad del láser de colorante pulsado (PDL) en los pacientes con este síndrome. Tratamos a siete pacientes con dos a cuatro sesiones de PDL a longitud de onda de 595 nm. La terapia láser fue realizada utilizando un tamaño de spot de 7 a 10 mm, una duración del pulso de 0,5 a 1,5 ms, y una fluencia de 6 a 8 J/cm2. Se realizaron fotografías clínicas antes del tratamiento y tres semanas tras el procedimiento. La supresión del eritema fue > 75% en cuatro pacientes. La púrpura transitoria estuvo presente en todos los pacientes durante alrededor de dos semanas, presentando un paciente con hipopigmentación postinflamatoria. A modo de conclusión consideramos que el PDL parece ser un tratamiento seguro y efectivo para las malformaciones capilares propias del síndrome CLAPO. Se logró una notable reducción del eritema en todos los pacientes, con baja incidencia de efectos secundarios (AU)

Capillary Malformation in CLAPO Syndrome Successfully Treated with Pulsed Dye Laser. / Malformación capilar del síndrome CLAPO exitosamente tratado con láser de colorante pulsado.

CLAPO syndrome (Capillary vascular malformation of the lower lip, Lymphatic malformations of the head and neck, Asymmetry and Partial/generalized Overgrowth) is a recently described entity, with very few published cases in the literature, and no standardized treatment. The objective of our study was to assess the efficacy and safety of PDL in patients with this syndrome. Seven patients were treated with two to four sessions of PDL at 595-nm wavelength. Laser therapy was performed using a spot size of 7 to 10 mm, a pulse duration of 0,5 to 1,5 ms and a fluence from 6 to 8 J/cm2. Clinical photographs were taken before treatment and 3 weeks after procedure. Clearance of the erythema was > 75% in 4 patients. Transient purpura was present in all patients for about 2 weeks and 1 patient presented post inflammatory hypopigmentation. In conclusion we consider that PDL seems to be a safe and effective treatment for capillary malformations of the CLAPO syndrome. A marked reduction in erythema was achieved in all patients with a low incidence of side effects.

Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study.

INTRODUCTION: About 0.2-6.1% of newborns in the developed world have been conceived by assisted reproductive techniques (ART). Higher rate of major and minor malformations have been described in this population, but the multiple possible confounders associated make it difficult to establish a direct causal relationship and the specific factors involved. MATERIAL AND METHODS: To determine the risk of these malformations in our population, a collaborative prospective controlled cohort study was designed. We collected the specific ART-data related to the clinical gestation of women treated in a period of 2 years in the Reproduction Unit from a Spanish public tertiary-level hospital. 231 out of 267 newborns of these gestation (88%) participated in the study and were assessed by a pediatrician with expertise in Clinical Genetics and Dysmorphology at 12-20 and 26-40 months of age. At the same time a controlled group of children naturally conceived (NC) was selected according to the following criteria: the next NC newborn belonging to the same group of maternal and gestational age, and type of gestation (single or multiple). 230 controls were chosen and 208 participated in the study (90%). RESULTS: Major malformations were presented in 7.8% of the ART-children and 7.2% of the controls, without founding statistically differences between groups. However, differences were found in the risk of some minor malformations such as capillary malformations and pigmentary lesions, higher in the ART-group. A recurrent pattern of craneofacial anomalies was also unexpectedly detected. CONCLUSIONS: In spite of the high rate of major congenital malformations detected, there were no differences between groups. Thus, our results suggest that ART may affect the normal embryonic development but in a milder way than other confounding factors do. The facial phenotype identified has not previously been described, either the higher risk of capillary malformations and pigmentary lesions. More studies are needed to confirm this association.

Riesgo de malformaciones mayores y menores en niños concebidos por técnicas de reproducción asistida (FIV/ICSI): estudio prospectivo de cohorte controlado / Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study

Introducción: En torno al 0,2-6,1% de los recién nacidos en los países desarrollados han sido concebidos por técnicas de reproducción asistida (TRA). Se han descrito tasas más altas de malformaciones congénitas (MC) mayores y menores en esta población, pero los múltiples posibles factores de confusión asociados hacen difícil establecer una relación de causalidad directa con estos procedimientos y conocer los factores específicos implicados. Material y método: Se realizó un estudio prospectivo de cohorte controlado con el objetivo de determinar el riesgo de MC en niños-TRA. Se recogieron los datos específicos de la TRA de una cohorte de gestaciones clínicas de mujeres tratadas en la Unidad de Reproducción de un hospital público de tercer nivel durante dos años; 231 de 267 (87%) niños nacidos de dichas gestaciones-TRA participaron en el estudio y fueron valorados por un pediatra con formación en Genética Clínica y Dismorfología a los 12-20 y a los 26-40 meses de edad. De forma simultánea se seleccionó una cohorte de niños concebidos de forma natural (CN), de acuerdo con los criterios: siguiente recién nacido al caso del mismo grupo de edad materna, edad gestacional y tipo de gestación (única o múltiple); 230 niños CN fueron seleccionados y 208 (90%) participaron en el estudio. Resultados: Se detectaron MC mayores en el 7,8% de casos y en el 7,2% de controles, sin existir diferencias estadísticamente significativas entre ellos. Sí se identificaron diferencias en algunas malformaciones menores como las malformaciones capilares y lesiones pigmentarias, más frecuentes en el grupo TRA. Además, se identificó de forma inesperada un patrón craneofacial recurrente en el grupo TRA. (AU)

Introduction: About 0.2–6.1% of newborns in the developed world have been conceived by assisted reproductive techniques (ART). Higher rate of major and minor malformations have been described in this population, but the multiple possible confounders associated, make it difficult to establish a direct causal relationship, and the specific factors involved. Material and methods: To determine the risk of these malformations in our population, a collaborative prospective controlled cohort study was designed. We collected the specific ART-data related to the clinical gestation of women treated in a period of 2 years in the Reproduction Unit from a Spanish public tertiary-level hospital. 231 out of 267 newborns of these gestation (88%) were exhausted assessed by a Clinical Geneticist expertise in Dysmorphology at 12–20 and 26–40 months of age. At the same time a controlled group of children naturally conceived (NC) was selected according to the following criteria: the next NC newborn belonging to the same group of maternal and gestational age, and type of gestation (single or multiple). 230 controls were chosen and 208 participated in the study (90%). Results: Major malformations were presented in 7.8% of the ART-children and 7.2% of the controls, without founding statistically differences between groups. However, differences were found in the risk of some minor malformations such as capillary malformations and pigmentary lesions, higher in the ART-group. A recurrent pattern of craneofacial anomalies was also unexpectedly detected. (AU)

[Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study]. / Riesgo de malformaciones mayores y menores en niños concebidos por técnicas de reproducción asistida (FIV/ICSI): estudio prospectivo de cohorte controlado.

INTRODUCTION: About 0.2-6.1% of newborns in the developed world have been conceived by assisted reproductive techniques (ART). Higher rate of major and minor malformations have been described in this population, but the multiple possible confounders associated, make it difficult to establish a direct causal relationship, and the specific factors involved. MATERIAL AND METHODS: To determine the risk of these malformations in our population, a collaborative prospective controlled cohort study was designed. We collected the specific ART-data related to the clinical gestation of women treated in a period of 2 years in the Reproduction Unit from a Spanish public tertiary-level hospital. 231 out of 267 newborns of these gestation (88%) were exhausted assessed by a Clinical Geneticist expertise in Dysmorphology at 12-20 and 26-40 months of age. At the same time a controlled group of children naturally conceived (NC) was selected according to the following criteria: the next NC newborn belonging to the same group of maternal and gestational age, and type of gestation (single or multiple). 230 controls were chosen and 208 participated in the study (90%). RESULTS: Major malformations were presented in 7.8% of the ART-children and 7.2% of the controls, without founding statistically differences between groups. However, differences were found in the risk of some minor malformations such as capillary malformations and pigmentary lesions, higher in the ART-group. A recurrent pattern of craneofacial anomalies was also unexpectedly detected. CONCLUSIONS: In spite of the high rate of major congenital malformations detected, there were no differences between groups. Thus, our results suggest that ART may affect the normal embryonic development but in a milder way than other confounding factors do. The facial phenotype identified has not previously, either the higher risk of capillary malformations and pigmentary lesions. More studies are needed to confirm this association.

Capillary Malformations Treated With Sequential Pulsed Dye and Nd:YAG Laser Therapy: A Retrospective Study. / Malformaciones capilares tratadas con aplicación secuencial de láser de colorante pulsado y Nd:YAG: estudio retrospectivo.

INTRODUCTION AND OBJECTIVE: Capillary malformations are the most common vascular malformations in childhood. The current treatment of choice is pulsed dye laser (PDL) therapy, but this frequently does not result in complete resolution. The search for alternative treatment strategies thus continues. In this study we describe our experience with the use of sequential dual-wavelength PDL and Nd:YAG laser therapy in patients with capillary malformations. MATERIAL AND METHODS: We conducted a retrospective, descriptive study of patients with capillary malformations treated with dual-wavelength PDL and Nd:YAG laser therapy between 2006 and 2011. Four dermatologists rated the effectiveness of treatment on a scale of 10 to 0. We also investigated the potential value of the following factors as predictors of better treatment response: sex, malformation size and color, and presence of associated hypertrophy. Adverse effects were also analyzed. RESULTS: We studied 71 patients and most of them experienced a statistically significant improvement after treatment. More favorable responses were observed for violaceous malformations, lesions with associated hypertrophy, and smaller lesions. Adverse effects were reported for 26.76% of patients, and the most common effect was the appearance of isolated areas of skin atrophy. CONCLUSIONS: We consider that sequential dual-wavelength PDL and ND:YAG laser therapy is an effective alternative for treating capillary malformations in selected patients.

[Capillary malformation-arteriovenous malformation syndrome]. / Síndrome malformación capilar-malformación arteriovenosa.

Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant condition in which multifocal capillary malformations and arteriovenous fistulas form in different organs. RASopathies include a set of common syndromes that have mutations on the Ras/MAPK pathway. We discuss the clinical implications and tests necessary for its diagnosis.