Sonographic findings in a neonate with Cobb syndrome.

Cobb syndrome (cutaneomeningospinal angiomatosis) is a rare phacomatosis characterized by vascular abnormality of the spinal cord associated with a vascular naevus at the same metamere. We report the case of a newborn with Cobb syndrome, diagnosed by sonography of the spine and later confirmed by MRI. In neonates and young infants with dermatomal cutaneous vascular abnormalities, sonography of the spine should be used as the first imaging modality.

[Acquired progressive lymphangioma (benign lymphangioendothelioma)]. / Linfangioma progresivo adquirido (linfangioendotelioma benigno).

Acquired progressive lymphangioma is a rare vascular tumor with a locally aggressive behavior. Histologically it is characterized by a proliferation of numerous, dilated, thin-walled vessels lined by flat endothelial cells with no nuclear atypia. The vessels appear to dissect between the collagen fibers. It usually presents as an asymptomatic, slow-growing, reddish-brown plaque. We present the case of a 32-year-old man with acquired progressive lymphangioma. The tumor was in the hypogastric region and had arisen on a congenital vascular lesion previously diagnosed as multifocal cutaneous angiomatosis. It was very painful and impeded walking, for which reason it was decided to perform excision. Dermatologists and pathologists must be aware of acquired progressive lymphangioma as early surgical treatment, while the lesion is still small, is curative and prevents subsequent complications due to growth.

Aspectos clínicos da síndrome de Sturge-Weber:[revisão] / Clinical features of Sturge-Weber syndrome: [review]

Introdução: A Síndrome de Sturge-Weber é uma rara condição de desenvolvimento congênita, sendo caracterizada por uma desordem neurocutânea com angiomas envolvendo as leptomeninges e a pele da face, preferencialmente no trajeto do ramos oftálmico (V1) e maxilar (V2) do nervo trigêmeo. Objetivo: Realizar uma revisão de literatura sobre a Síndrome de Sturge-Weber, enfatizando aspectos atuais. Método: Foram consultadas as bases de dados on-line EMedicine, Encyclopedia of Medicine, Find Articles, LILACS, MEDLINE, Merkmanuals On-Line Medical Library e SciELO, aplicando à pesquisa os termos: Síndrome de Sturge-Weber, síndromes neuro-cutâneas, angiomatose encefalotrigeminal, nevo flamíneo, para artigos publicados entre 1991 e 2007. Revisão de Literatura:O achado clínico mais característico é a presença, já ao nascimento, do nevo flamíneo que atinge, geralmente, uma metade da face podendo estender-se até o pescoço; além disso, outras manifestações clínicas podem estar presentes, como a angiomatose corticocerebral, calcificações cerebrais, epilepsia, afecções oculares, bucais e retardo mental.O diagnóstico é estabelecido por meio da pesquisa de alterações neurológicas e oftálmicas em pacientes com o nevo flamíneo característico, aliando-se aos dados clínicos exames complementares como Tomografia Computadorizada.O tratamento consiste, basicamente, em controlar as manifestações clínicas já evidentes e prevenir o surgimento de outras alterações, principalmente orais e oculares. Conclusão: Esta síndrome, apesar de pouco freqüente, precisa ser precocemente diagnosticada, visto que acarreta uma série de complicações aos seus portadores quando não tratada, principalmente por atingir o Sistema Nervoso Central.Os profissionais da saúde devem, portanto, estar aptos a reconhecer seus sinais e sintomas característicos, e assim melhorar a qualidade de vida desses pacientes.

Introduction: The Syndrome of Sturge-Weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face skin, mainly in the course of ophthalmic (V1) and maxillary (V2) branches of the trigeminal nerve. Objective: To review the literature about the Sturge-Weber Syndrome with emphasis on the current aspects. Method: The following databases were searched: EMedicine, Encyclopedia of Medicine, FindArticles, LILACS, MEDLINE, Merck Manuals On-Line Medical Library and Scielo, and the searches applied the terms: Sturge-Weber Syndrome, neurocutaneous syndromes, encephalo-trigeminal angiomatosis, nevus flammeus, in articles published between 1991 and 2007. Literature's Review: The most characteristic clinical statement is the presence, since the birth, of nevus flammeus, that generally reaches one half of the face and may stretch out up to the neck; in addition, other clinical manifestations may be present, like the corticocerebral angiomatosis, cerebral calcifications, epilepsy, ocular and buccal affections and mental retardation. The diagnosis is established by means of the inquiry of neurological and ophthalmic alterations in patients with a characteristic nevus flammeus, allied to the clinical data of complementary exams such as Computerized Tomography. The treatment consists basically of controlling the already confirmed clinical manifestations and preventing from the appearing of other alterations, mainly buccal and ocular. Conclusion: This syndrome is not much frequent, but it needs to be early diagnosed, since it brings a series of complications to its carriers when not treated, specially because of reaching the Nervous Central System. The health professionals have to be suitably able to recognize its characteristic signs and symptoms, and so improve the quality of life of these patients.

[Vascular malformations (I). Concept, classification, pathogenesis and clinical features]. / Malformaciones vasculares (I). Concepto, clasificación, fisiopatogenia y manifestaciones clínicas.

Vascular malformations are anomalies always present at birth that, contrary to hemangiomas, never regress and may grow during lifetime. Clinical presentation of vascular malformations is extremely variable and ranges from asymptomatic spots of mere aesthetic concern to lesions with high blood flow or located in critical sites that may be life-threatening. Given the low incidence of these disorders it is difficult to establish therapeutic guidelines. In addition to a correct classification of vascular anomalies, it is necessary a multidisciplinary approach for the follow-up and management of these patients. The first part of this review focuses on the different classifications of vascular anomalies, maintaining as reference the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA). Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed.

Diffuse neonatal haemangiomatosis: a rare cause of haemorrhagic shock and refractory coagulopathy in the newborn.

A term newborn infant developed hypovolaemic shock shortly after birth. She was pale with gross hepatomegaly. She required multiple boluses of intravenous fluids, blood products as well as inotropic support. Blood investigations showed persistent thrombocytopenia, anaemia and disseminated intravascular coagulopathy (DIC). She also developed heart failure. She finally succumbed on the eleventh day of life. Autopsy revealed haemangiomatosis involving the liver, lungs, gastrointestinal tract, kidneys and adrenals.

[Congenital subfold hemangioma in combination with hemangiomatosis of the head, face and neck]. / Vrozhdennaia podskladkovaia gemangioma v sochetanii s gemangiomatozom golovy, litsa, shei.

The treatment was made of 15 children aged 3-6 months with advanced hemangiomatosis of the head, face, neck and larynx. The treatment combined hormone therapy, sclerotherapy of the tumor, staged cryodestruction of the external and endolaryngeal nodes. In one case the arterial occlusion was performed. Good cosmetic results and recovery of adequate respiration were achieved in 13 children.

Angiodisplasias congénitas, diagnóstico y tratamiento: informe de la experiencia inicial en el Hospital General de México de la S.S. / Diagnosis ant treatment of congenital angiodisplasias at the Mexico city General Hospital

Las angiodisplasias congénitas (ADC) o malformaciones arteriovenosas (MAV) continúan en la actualidad mal clasificadas y por lo tanto tratadas en forma deficiente por la mayor parte de los médicos. Presentamos la experiencia inicial en el diagnóstico y tratamiento radiológico de las mismas, utilizando la clasificación de Malan y Puglionissi, así como también de la Yasargil. Se emplearon diversos agentes de embolización (espirales de alambre, gelfoam, farmaflebón y etanol). Se trataron con técnicas embolizantes y esclerosantes a 13 pacientes de una serie de 48, con rango de edad entre 7 y 75 años, el número de embolizaciones varió desde una hasta más de 3 veces, el porcentaje de éxito fluctuó entre el 40 y el 90 por ciento teniendo una complicación que fue resuelta satisfactoriamente. Se hace énfacis en la necesidad de integrar un equipo interdisciplinario para el diagnóstico y tratamiento temprano de las mismas con el propósito de obtener mejores resultados

Congenital livedo reticularis and recurrent stroke-like episodes.

Three children with pronounced livedo reticularis present since birth (cutis marmorata-telangiectasia congenita) have been followed to the ages of eight, 17 and 21 years. During childhood they developed frequent recurrent transient stroke-like hemipareses, affecting either side of the body, associated with ipsilateral pain, headache, visual symptoms, dysphasia, fits and confusion. Intellectual failure and, in one, progressive spasticity have followed. Attacks were more frequent in winter. Other problems have included abnormal peripheral vascular responses to temperature change, gastro-intestinal bleeding, glaucoma, local tissue hypertrophy and, in the two older patients, renal involvement with hypertension. Their condition represents a form of congenital vasculopathy. Anticonvulsants, anti-migraine agents, anti-platelet drugs and flunarizine have been ineffective. Nifedipine prevented further attacks in one patient and reduced attacks in another, but has not helped the third child. Adequate clothing and warmth may also be important.

Angiomatosis: a vascular malformation of infancy and childhood. Report of 17 cases.

Angiomatosis is a complex vascular malformation of infancy and childhood consisting of proliferating blood vessels with accompanying mature fat and fibrous tissue, lymphatics and sometimes nerves, that may involve skin, subcutaneous tissue, skeletal muscle and occasionally bone; lesions are non-encapsulated with poorly defined infiltrative borders. Treatment is surgical, with local recurrence being common. We report 17 cases of angiomatosis presenting in children. Recurrences occurred in 10 patients, with multiple recurrences occurring in four. One child was treated with foot amputation followed two years later by mid-thigh amputation in an attempt to control local disease. Histology in all cases showed a mixture of small and medium-sized blood vessels, fat, connective tissue and lymphatics; nerves were increased in several cases. All lesions showed nests of proliferating capillaries, arranged in a lobular pattern, pushing into adjacent muscle and fat. This appearance was not seen in a large comparison group of vascular soft tissue lesions, and may serve as an indicator of angiomatosis with its associated risk of recurrence.

Vascular tumors of the breast. III. Angiomatosis.

This report describes three female patients who were treated for diffuse vascular lesions of the breast. The lesion was congenital in one patient. Two were adults (40 and 59 years old). Each presented with a mass within the breast. Microscopically, the tumors were composed of vascular channels growing diffusely in breast parenchyma. The vessels were lined by flat, inconspicuous endothelium with sparse supporting mural tissue virtually devoid of smooth muscle. The lesions consisted of hemangiomatous (erythrocyte-containing) and lymphangiomatous (seemingly empty) channels with lymphoid aggregates. This combination of a mixed pattern of vessels and diffuse growth is similar to that seen in lesions that have been called angiomatosis in other anatomic sites. Because the microscopic distinction between very orderly angiosarcomas and angiomatosis may be difficult, complete excision of the tumor is necessary. For bulky lesions, this may require mastectomy. In one patient congenital angiomatosis has persisted and recurred twice in the mammary region over 39 years. The other two patients remain well 3 years after local excision and 2 years and 4 months after mastectomy, respectively. Angiomatosis of the breast has not exhibited clinically malignant behavior since no metastases have been observed.

Congenital dysplastic angiopathy (Klippel-Trenaunay-Weber syndrome) with vulvar involvement. A case report.

Congenital dysplastic angiopathy (Klippel-Trenaunay-Weber Syndrome) consists of angiomata and congenital varicosities with trophic changes of soft tissues and various parts of the skeletal system. Involvement of female genitalia is rare and has been reported to occur in only four patients. The authors treated a patient with a lymphangioma of the vulva associated with congenital dysplastic angiopathy.

[Foix-Alajouanine disease in childhood (clinico-morphologic case)]. / Bolezn' Fua-Alazhuanina v detskom vozraste (kliniko-morfologicheskoe nabliudenie).

It is the first report in the Soviet literature on Foix-Alajouanine's disease in childhood. The disease is marked by congenital multiple angiomatosis of the spinal vessels attended by gliosis and cavity formation. A thorough morphological analysis of the case was performed.