Diffuse hepatocutaneous hemangiomatosis: an unusual presentation. / Hemangiomatosis hepatocutánea difusa: presentación inusual.

INTRODUCTION: Infantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional. CLINICAL CASE: 4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing. DISCUSSION: No explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this.

INTRODUCCION: Los hemangiomas infantiles con afectación multivisceral son escasos y su presentación en forma de hemorragia incontrolable es excepcional. CASO CLINICO: Recién nacido de 4 días de vida que presentaba múltiples hemangiomas hepatocutáneos y una lesión vascular púrpura-violácea, que abarcaba el tercer dedo de la mano derecha. En la tercera semana de vida, la lesión presentó ulceración y un sangrado incoercible requiriendo amputación urgente, con un resultado histopatológico de hemangioma infantil GLUT-1 positivo, con arquitectura compatible con malformación arteriovenosa en la parte profunda. Las pruebas de imagen mostraron que se trataba de una lesión de alto flujo. La genética (MAP2KI, RASA 1, EPHB4, GNAQ y GNA 11) fue negativa. La evolución del paciente fue buena, con la involución de las lesiones hepatocutáneas hasta su desaparición. COMENTARIOS: La divergencia en el comportamiento de las mismas lesiones vasculares en diferentes pacientes aún no ha encontrado explicación. Es posible que nuevas mutaciones puedan darnos una respuesta.

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.

Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study. / Hiperplasia muscular aberrante de la mano y síndromes de sobrecrecimiento relacionados con el PIK3CA. Serie de casos.

INTRODUCTION: Congenital muscular hyperplasia of the hand is a rarely described entity, characterized by the presence of aberrant or accessory muscles in the hypothenar eminence, which has been always reported as sporadic anomaly in the medical literature. The aim of this paper is to report a series of cases with a phenotype of aberrant muscle hyperplasia associated with PIK3CA mutations. MATERIAL AND METHODS: We describe a retrospective series of cases followed at our institution between 2008 and 2020, with a unique phenotypein the context of PIK3CA mutations. RESULTS: A total of 6 patients were included (4 males and 2 females), who presented with an enlargement of the hypothenar eminence of the hand and peculiar wrinkling of the overlying skin, associated with ulnar deviation of the metacarpo-phalangeal joints. In all cases, variable degrees of congenital overgrowth of the ipsilateral limb were observed. Skin punch biopsy (5 mm diameter and 3-5 mm depth) was performed on 4 patients, where striated muscle hyperplasia and the presence of striated muscular fibers in the dermis and hypodermis were observed in all of them. Genetic studies revealed PIK3CA mutation in 3 of the 4 patients whose affected tissue was analyzed, in a mosaic state ranging from 3 to 8% (His1047Arg, Glu542Lys, and Cys420Arg, 1 case each). CONCLUSION: Aberrant muscular hyperplasia of the hand is a well-recognized entity scarcely described in association with PIK3CA spectrum disorder in the pediatric population. The role of PIK3CA in muscle overgrowth is not yet well understood.

INTRODUCCION: La hiperplasia muscular congénita de la mano es una entidad rara, caracterizada por la presencia de músculos aberrantes o accesorios en la eminencia hipotenar, que siempre se ha descrito en la literatura médica como una anomalía esporádica. El objetivo de este artículo es informar de una serie de casos con fenotipo de hiperplasia muscular aberrante asociada a mutaciones del PIK3CA. MATERIAL Y METODOS: Serie retrospectiva de casos atendidos en nuestro centro entre 2008 y 2020, con un fenotipo único en el contexto de las mutaciones del PIK3CA. RESULTADOS: Se incluyeron un total de 6 pacientes (4 masculinos y 2 femeninos) con ensanchamiento de la eminencia hipotenar de la mano y arrugamiento peculiar de la piel suprayacente, asociado a desviación ulnar de las articulaciones metacarpofalángicas. En todos los casos se observaron grados variables de sobrecrecimiento congénito del miembro ipsilateral. Se realizó biopsia cutánea por punch (5 mm de diámetro y 3-5 mm de profundidad) en 4 pacientes con hiperplasia muscular y presencia de fibras musculares estriadas en dermis e hipodermis. Los estudios genéticos revelaron mutación del PIK3CA en 3 de los 4 pacientes, cuyo tejido afectado fue enviado a analizar, con mosaicismo de entre el 3 y el 8% (His1047Arg, Glu542Lys y Cys420Arg respectivamente). CONCLUSION: La hiperplasia muscular aberrante de la mano es una entidad reconocida pero escasamente descrita en asociación con síndromes relacionados con el PIK3CA en la población pediátrica. A día de hoy sigue desconociéndose el papel del PIK3CA en el sobrecrecimiento muscular.

Multifocal lymphangioendotheliomatosis with thrombocytopenia: phenotypic variability and response to rapamycin. / Linfagioendoteliomatosis multifocal con trombopenia: variabilidad fenotípica y respuesta a rapamicina.

INTRODUCTION: Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is characterized by multiple maculopapular lesions involving the stomach and the lungs, associated with thrombocytopenia as a result of platelet entrapment. Episodes of severe digestive bleeding, which are sometimes unmanageable, are one of its most frequent presentations and a cause of mortality. Our objective was to describe the various phenotypes, as well as our treatment experience. MATERIALS AND METHODS: A retrospective analysis of patients diagnosed with MLT in our vascular abnormality unit from 2007 to 2018 was carried out. Epidemiological, clinical, and evolution data were analyzed, and a long-term follow-up was performed. RESULTS: Five patients (3 boys and 2 girls) had congenital macules and erythematous papules of various sizes. They were later associated with episodes of severe hematemesis along with thrombocytopenia, which required blood product transfusion. The most frequently involved areas were the stomach and the colon. In two patients, multiple bilateral pulmonary nodules were noted. The anatomical pathology examination showed extended vessels with a prominent, hobnail endothelium, as well as intraluminal papillary projections in the dermis. Immunohistochemical analysis was CD-31 positive and CD-34 positive in a characteristic manner. Two patients were treated with mTOR inhibitors (rapamycin), with a progressive decrease in extracutaneous involvement and platelet recovery, but with a poor response in dermal lesions. Two patients were treated with vincristine, with a reduction of digestive bleeding episodes. No deaths were reported in our series. CONCLUSION: MLT is characterized by hematological and cutaneous involvement - sometimes minimal -, with potential lesions in other internal organs. Its heterogeneous presentation, which may start with severe digestive bleeding, makes this rare pathology difficult to diagnose. mTOR inhibitors have opened up new treatment possibilities.

INTRODUCCION: La linfangioendoteliomatosis multifocal con trombopenia (LMT) es una anomalía, caracterizada por múltiples lesiones maculo-papulosas con afectación visceral gástrica y pulmonar, asociado a trombopenia por atrapamiento plaquetar. Una de sus presentaciones más frecuentes es en forma de episodios de hemorragia digestiva severa, en ocasiones inmanejable, y que es la responsable de su mortalidad. Nuestro objetivo es describir los diferentes fenotipos, así como nuestra experiencia en su tratamiento. MATERIAL Y METODOS: Hemos realizado un análisis retrospectivo de los pacientes diagnósticos de LMT según las características histológicas típicas entre 2007 y 2018 en nuestra unidad de anomalías vasculares. Se analizaron datos epidemiológicos, clínicos y de evolución, así como seguimiento a largo plazo. RESULTADOS: Cinco pacientes (3 hombres y 2 mujeres) presentaron al nacimiento máculas y pápulas eritematosas de diferentes tamaños a los que más adelante se les asoció episodios de hematemesis graves junto a trombopenia, que llegaron a requerir transfusión de hemoderivados. Las regiones más afectadas fueron el estómago seguido del colon. En dos pacientes se detectaron múltiples nódulos pulmonares bilaterales. La anatomía patológica describió vasos alargados con endotelio prominente y en tachuela junto a proyecciones papilares intraluminales en dermis. La inmunohistoquímica fue positiva de forma característica para CD-31 y CD-34. Dos pacientes fueron tratados con inhibidores de mTOR (rapamicina) con disminución progresiva de la afectación extracutánea y recuperación plaquetar, pero con una pobre respuesta de las lesiones dérmicas. Dos pacientes fueron tratados con vincristina con reducción de los episodios de sangrado digestivo. No se registró ningún fallecimiento en nuestra serie. CONCLUSION: La LMT se caracteriza por una afectación cutánea, a veces mínima, y hematológica que puede asociar lesiones en otros órganos internos. La presentación heterogénea, pudiendo debutar con hemorragias digestivas severas, hacen de esta entidad una patología de difícil diagnóstico. Los inhibidores de mTOR han abierto una nueva vía que arroja cierta esperanza para el tratamiento de esta patología tan poco frecuente.

Combined treatment of enterocutaneous fistula with laser diode and embolization. / Tratamiento de fístula enterocutánea combinando láser diodo y embolización.

INTRODUCTION: Enterocutaneous fistula treatment in patients undergoing multiple surgeries is complex and requires creative solutions. We present the case of an enterocutaneous fistula managed with laser diode and cyanoacrylates. CLINICAL CASE: 15-year-old patient, diagnosed with ulcerative colitis at 12 years of age, undergoing full colectomy with urgent ileostomy as a result of a flare-up refractory to medical treatment. Five months later, an ileoanal pull-through with pouch was carried out, leaving a protection ileostomy in place. However, postoperative evolution was poor, with pelvic infection, so two further urgent open surgeries were required for lavage and hemostasis purposes. Six months later, anastomotic stricture was noted. It was healed following various pneumatic dilations under ultrasound vision and at-home dilations using Hegar dilators. One year following this, ileostomy was closed, but one month later, abdominal distension occurred. It was associated with a fistula in the abdominal midline, which could be endoscopically guided, with its origin being located at the ileoanal anastomosis. Laser diode sessions were applied for treatment purposes, with partial improvement, but still with gas emission. One year later, embolization was performed by placing platinum coils and lipiodol-diluted cyanoacrylates, and clinical signs disappeared. 17 months following this surgery, the patient has no symptoms, with full day and night fecal continence and 3 daily stools, and the fistula is completely closed. CONCLUSION: Combined treatment with laser diode and platinum coil and cyanoacrylate embolization proves effective in the management of enterocutaneous fistula, with low morbidity.

INTRODUCCION: El tratamiento de las fístulas enterocutáneas establecidas en pacientes multioperados es complejo y requiere de soluciones creativas. Presentamos la resolución de un caso con láser diodo y con cianoacrilatos. CASO CLINICO: Paciente de 15 años, diagnosticado a los 12 de colitis ulcerosa y sometido a pancolectomía con ileostomía urgente por brote refractario al tratamiento médico. Cinco meses después se realizó un descenso ileoanal con reservorio dejando ileostomía de protección, pero presentó un posoperatorio tórpido con infección pélvica, precisando dos nuevas laparotomías urgentes, para lavado y hemostasia. Seis meses después, se evidenció una estenosis de la anastomosis que se resolvió tras varias dilataciones, neumáticas bajo visión endoscópica y domiciliarias con tallos de Hegar. Un año después se cerró la ileostomía, presentando al mes una distensión abdominal y aparición de fístula en línea media abdominal, que pudo tutorizarse endoscópicamente, observando su origen en la anastomosis ileoanal. Se trató mediante sesiones de láser diodo, con mejoría parcial, aunque persistía la salida de gases. Un año después se embolizó implantando espirales de platino y cianoacrilatos diluidos con lipiodol, resolviéndose totalmente el cuadro. Transcurridos 17 meses de esta última intervención, el paciente se encuentra asintomático, con continencia fecal total diurna y nocturna, tres deposiciones al día y la fístula está totalmente cerrada. CONCLUSION: El tratamiento con láser diodo, combinado con embolización con espirales de platino y cianoacrilatos, puede ser un tratamiento eficaz con baja morbilidad de las fístulas enterocutáneas establecidas.

Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. AIM: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. METHODS: We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. RESULTS: In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. CONCLUSIONS: Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.

Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain.

BACKGROUND: 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. MATERIALS AND METHODS: We retrospectively included patients with RDEB attended in La Paz University Hospital from November 1988 to October 2018. RESULTS: 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). CONCLUSIONS: 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.

[Intranodal lymphangiography in pediatric chylothorax, a diagnostic and therapeutic tool]. / Linfangiografía intranodal en quilotórax pediátrico, una herramienta diagnóstica y terapéutica.

INTRODUCTION: High morbidity has been described in secondary chylothorax. Thoracic duct embolization (TDE) after intranodal lymphangiography (IL) is one of the treatments in adults but there is poor experience in children. We aim to describe our experience with this technique for refractory pediatric chylothorax. METHODS: A retrospective study of patients with refractory chylothorax treated with thoracic duct embolization at our Institution in the last 4 years was performed. Lymphatic vessels visualization was obtained by intranodal lymphangiography with ethiodized oil. Demographic and clinical data as well as imaging findings were collected. RESULTS: A total of 4 patients were treated during the study period with a median of age and weight of 2.5 months (1-16) and 4.25 kg (2.8-10) respectively. Chylothorax was secondary to cardiothoracic surgery in 3 patients and to venous thrombosis in the other one. Medical treatment was provided during a median of 47 days (13-56) without benefit in thoracic output [median: 46 ml/kg/day (19-64)]. After IL, thoracic duct catheterization was achieved in one patient however embolization was not possible. Chylothorax stopped in the 3 post-surgical patients regardless of how much lymphatic visualization was achieved in IL. In the venous thrombosis patient surgical treatment was performed 6 days after the study. CONCLUSION: IL can be a diagnostic and therapeutic tool in children. Ethiodized oil seems to seal lymphatic leak in postsurgical chylothorax. IL could be an option for chylothorax in patients too sick for surgical treatment or in whom thoracic duct embolization is not feasible.

INTRODUCCION: El quilotórax secundario es una entidad rara con una alta morbilidad. La embolización del conducto torácico (CT) mediante linfangiografía intranodal (LI) con aceite etiodizado (AE) forma parte del arsenal terapéutico del quilotórax en el adulto. Presentamos nuestra experiencia con esta técnica en pacientes pediátricos con quilotórax refractario al tratamiento médico. METODOS: Estudio retrospectivo de los pacientes tratados en nuestro centro por quilotórax refractario con LI en los últimos 4 años. Se recogieron los datos epidemiológicos, clínicos, terapéuticos y linfangiográficos. RESULTADOS: Se identificaron 4 pacientes, con unas medianas de edad y peso de 2,5 meses (1-16) y 4,25 kg (2,8-10) respectivamente. En 3 de los pacientes el quilotórax fue secundario a cirugía cardiaca y en el restante a trombosis extensa de vena cava superior. La mediana de débito fue de 46 ml/kg/día (19-64) y la de tiempo de tratamiento médico de 47 días (13-56). En todos ellos se realizó LI, opacificándose el CT solo en un paciente, sin lograrse la embolización. A pesar de ello, tras la LI, el quilotórax cesó en el grupo postquirúrgico independientemente del nivel de opacificación del árbol linfático. En el paciente secundario a trombosis, se realizó ligadura quirúrgica del CT 6 días después del estudio. CONCLUSIONES: La LI es una técnica diagnóstica e incluso terapéutica en casos de quilotórax refractario, que comienza a ser necesaria y realizable en centros con experiencia. El AE parece sellar la fuga linfática por un mecanismo embolizante en casos postquirúrgicos, eliminando la necesidad del cierre quirúrgico.

[Arterial sinus pericranii. First case report]. / Sinus pericranii arterial. Una entidad desconocida.

INTRODUCTION: Sinus pericranii (SP) is a rare vascular anomaly consisting in an abnormal intradiploic communication between intra and extra cranial venous systems. It usually presents as a congenital soft mass in the cranial midline with progressive growth, which enlarges significantly with Valsalva maneuver. A similar congenital vascular anomaly involving intra and extra cranial arterial systems has not been previously described in the medical literature. CLINICAL CASE: A 6-year-old boy with suspected midline capillary malformation of the frontal bone was referred to our Vascular Anomalies Unit for progressive increase in size. A conclusive ultrasound of high flow malformation was performed. Angio-TAC confirmed the arterial nature of the lesion and its communication with the middle meningeal artery. Embolization of the distal portion of the middle meningeal artery was performed prior to surgery. Previous to exeresis of the malformation, skin expanders were placed to cover the subsequent defect. The histopathological result was an arteriovenous malformation. Currently the patient is 10 years old and is asymptomatic, with no recurrence of the lesion. CONCLUSIONS: Since its first description, SP has been classified and described in the literature as a venous malformation. Although morphologically may resemble a SP, histologically and immunohistochemically it corresponds to an arteriovenous malformation with intracranial arterial connection. It is especially important to know how to diagnose this type of cranial malformations because their long-term evolution will depend on correct management and initial follow-up.

INTRODUCCION: El sinus pericranii (SP) es una malformación vascular rara en la que existe una conexión intradiploica entre el sistema venoso intra y extracraneal. Se presenta como una masa blanda en línea media del cráneo con crecimiento progresivo, que aumenta de tamaño con maniobras de Valsalva. Una conexión similar entre los sistemas arteriales intra y extracraneales no ha sido descrita previamente. CASO CLINICO: Niño de 6 años con sospecha de malformación capilar en línea media del hueso frontal fue derivado a nuestra Unidad de Anomalías Vasculares por aumento progresivo de tamaño. Se realizó una ecografía concluyente de malformación de alto flujo. La angio-TAC confirmó la naturaleza arterial de la lesión y su comunicación con la arteria meníngea media. Se realizó una embolización de la porción distal de la arteria meníngea media previa a la cirugía. Previo a la exeresis de la malformación se procedió a colocar expansores cutáneos para poder cubrir el defecto posterior. El resultado histopatológico fue de una malformación arteriovenosa. Actualmente el paciente tiene 10 años y se encuentra asintomático, sin recidiva de la lesión. CONCLUSION: Desde su primera descripción, el SP se ha clasificado y descrito en la literatura como una malformación venosa. Aunque morfológicamente aparentase de un SP, histológica e inmunohistoquimicamente corresponde una malformación arteriovenosa con conexión arterial intracraneal. Es de especial importancia saber diagnosticar este tipo de malformaciones craneales porque su evolución a largo plazo dependerá de un correcto manejo y seguimiento inicial.

Different Clinical Features of Acral Abortive Hemangiomas.

Some infantile hemangiomas called in literature "minimal or arrested growth hemangiomas" or "abortive hemangiomas" are present at birth and have a proliferative component equaling less than 25% of its total surface area. Often, they are mistaken for vascular malformation. We present five patients (three girls and two boys) with abortive hemangiomas diagnosed between January 2010 and December 2015 localized in acral part of the extremities. They were congenital lesions resembling precursor of hemangiomas but did not show proliferation phase. Immunohistochemical Glut-1 was performed in all of them as a way to confirm the abortive hemangioma diagnosis. The most common appearance was a reticulated erythematous patch with multiple fine telangiectasias on the surface. We remark that one of them presented a segmental patch with two different morphologies and evolutions. The proximal part showed pebbled patches of bright-red hemangioma and presented proliferation and the distal part with a reticulated network-like telangiectasia morphology remained unchanged. We detected lower half of the body preference and dorsal region involvement preference without ventral involvement. The ulceration occurred in three patients with two different degrees of severity.

CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. These common anomalies are illustrated with figures from two personal cases. Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomalies. In this context, a new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated PIK3CA-related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.

[Venous aneurysms associated with lymphatic malformations]. / Aneurismas venosos asociados a malformaciones linfáticas.

OBJECTIVES: To analyze and describe the association between the development of venous aneurysms of the mayor vessels in patients with lymphatic malformations. MATERIAL AND METHODS: Retrospective review of patients diagnosed with both VA and LM from 1993 to 2014 and a descriptive analysis of clinical course was performed. RESULTS: We found 6 patients, 50% females, who had LM and VA confirmed with imaging techniques. All were diagnosed between 20 weeks- 12 years of age. LM were found within the thoracic cavity (n= 4), intrathoracical-cervical area (n= 1) and lower extremities (n= 1). In most cases the dilated veins were near the LM and thus, the mediastinal vessels were most commonly affected (superior vena cava-innominated (n= 1), venous jugulosubclavian confluence (n= 2), superior vena cava (n= 2) and popliteal vein (n= 1)). A total of 4 patients required surgical treatment of the LM with complete excision in 2 of the cases. Patients with a prenatal diagnosis of lymphatic malformation were most likely to present venous aneurysms at birth (n= 2), however the remaining patients (without prenatal diagnosis) developed them later on (average 6 years). Unlike lower extremity aneurysms, none of these aneurysms grew or required antiplatelet therapy; local thrombosis developed in one which resulted in pulmonary thromboembolism and one developed mitral valve insufficiency (regurgitation?) which required valve replacement. CONCLUSION: VA is extremely rare, and there is not therapeutic algorithm, therefore treatment should be individualized.

OBJETTIVOS: Analizar y describir la asociación entre el desarrollo de aneurismas venosos (AV) de grandes troncos en pacientes con malformaciones linfáticas (ML). MATERIAL Y METODOS: Estudio retrospectivo de los pacientes de nuestro centro entre 1993-2014, y análisis descriptivo de la asociación AV y ML. RESULTADOS: Se identificaron 6 pacientes, 50% mujeres, con una ML confirmada mediante prueba de imagen y una dilatación aneurismática de un tronco venoso. Los pacientes tenían edades entre 20 semanas-12 años y las ML se encontraban intratorácicas (n= 4), intratorácicas-cervical (n= 1) y en miembro inferior (n= 1); y las venas dilatadas en sus proximidades, siendo afectadas con mayor frecuencia los grandes vasos mediastínicos (vena cava superior- innominada (n= 1), confluencia venosa subclavioyugular (n= 2), vena cava superior (n= 2) y la vena poplítea (n= 1)). Se intervinieron n= 4, no pudiéndose extirpar completamente en 2 casos. Los niños que presentaron un diagnóstico prenatal de la malformación linfática presentaban una dilatación aneurismática de una gran vena en el control neonatal de la malformación (n= 2). En cambio, los pacientes con diagnóstico tardío de ML no presentaban dilatación vascular hasta pasados varios años (media 6 años). Ningún AV ha iniciado tratamiento antiagregante, y no han aumentado bruscamente su tamaño, uno desarrolló un trombo y posteriormente un tromboembolismo pulmonar, y otro debutó una insuficiencia mitral necesitando un recambio valvular mitral. CONCLUSION: El AV es una entidad poco común, y no existe algoritmo terapéutico, siendo una máxima el tratamiento individualizado de cada paciente.

[Sinus pericranii. A series of 5 cases]. / Sinus pericranii. Serie de 5 casos.

Sinus pericranii is a rare vascular anomaly in which an abnormal communication exists between the extracranial venous system and the dural venous sinuses. The natural history in most cases consists of a purplish nodule in the frontal region that may gradually increase in size. Different treatment options can be chosen: from observation of the lesion, to endovascular embolization of intracerebral component or a complete resection of both anomalous components (extra- and intra-cranial) by surgery. In this context, potential life-threatening complications including thrombosis and cerebral hemorrhage can occur. Here we present our experience in management of sinus pericranii, and emphasize the importance of a multidisciplinary therapeutic approach of this uncommon entity.

Consensus Document of the International Union of Angiology (IUA)-2013. Current concept on the management of arterio-venous management.

Arterio-venous malformations (AVMs) are congenital vascular malformations (CVMs) that result from birth defects involving the vessels of both arterial and venous origins, resulting in direct communications between the different size vessels or a meshwork of primitive reticular networks of dysplastic minute vessels which have failed to mature to become 'capillary' vessels termed "nidus". These lesions are defined by shunting of high velocity, low resistance flow from the arterial vasculature into the venous system in a variety of fistulous conditions. A systematic classification system developed by various groups of experts (Hamburg classification, ISSVA classification, Schobinger classification, angiographic classification of AVMs,) has resulted in a better understanding of the biology and natural history of these lesions and improved management of CVMs and AVMs. The Hamburg classification, based on the embryological differentiation between extratruncular and truncular type of lesions, allows the determination of the potential of progression and recurrence of these lesions. The majority of all AVMs are extra-truncular lesions with persistent proliferative potential, whereas truncular AVM lesions are exceedingly rare. Regardless of the type, AV shunting may ultimately result in significant anatomical, pathophysiological and hemodynamic consequences. Therefore, despite their relative rarity (10-20% of all CVMs), AVMs remain the most challenging and potentially limb or life-threatening form of vascular anomalies. The initial diagnosis and assessment may be facilitated by non- to minimally invasive investigations such as duplex ultrasound, magnetic resonance imaging (MRI), MR angiography (MRA), computerized tomography (CT) and CT angiography (CTA). Arteriography remains the diagnostic gold standard, and is required for planning subsequent treatment. A multidisciplinary team approach should be utilized to integrate surgical and non-surgical interventions for optimum care. Currently available treatments are associated with significant risk of complications and morbidity. However, an early aggressive approach to elimiate the nidus (if present) may be undertaken if the benefits exceed the risks. Trans-arterial coil embolization or ligation of feeding arteries where the nidus is left intact, are incorrect approaches and may result in proliferation of the lesion. Furthermore, such procedures would prevent future endovascular access to the lesions via the arterial route. Surgically inaccessible, infiltrating, extra-truncular AVMs can be treated with endovascular therapy as an independent modality. Among various embolo-sclerotherapy agents, ethanol sclerotherapy produces the best long term outcomes with minimum recurrence. However, this procedure requires extensive training and sufficient experience to minimize complications and associated morbidity. For the surgically accessible lesions, surgical resection may be the treatment of choice with a chance of optimal control. Preoperative sclerotherapy or embolization may supplement the subsequent surgical excision by reducing the morbidity (e.g. operative bleeding) and defining the lesion borders. Such a combined approach may provide an excellent potential for a curative result. Conclusion. AVMs are high flow congenital vascular malformations that may occur in any part of the body. The clinical presentation depends on the extent and size of the lesion and can range from an asymptomatic birthmark to congestive heart failure. Detailed investigations including duplex ultrasound, MRI/MRA and CT/CTA are required to develop an appropriate treatment plan. Appropriate management is best achieved via a multi-disciplinary approach and interventions should be undertaken by appropriately trained physicians.