Síndrome de bart: A propósito de un caso / Bart syndrome: Report of a case

El síndrome de Bart es un trastorno congénito poco frecuente, caracterizado por la asociación de epidermólisis ampollosa, ausencia congénita localizada de piel y ocasionalmente anormalidades ungueales. En este artículo se reporta el caso de un neonato masculino, remitido al Hospital para el Niño del IMIEM (Instituto Materno-Infantil del Estado de México), para valoración de lesiones ampollosas extensas y ausencia de piel en miembros inferiores, presentes desde el nacimiento quien después del tratamiento, mostró mejoría con una evolución clínica favorable.

Bart syndrome is a rare congenital disorder characterized by the association of epidermolysis bullosa, localized congenital absence of skin and occasionally nail abnormalities. In this presentation we report the case of a male neonate referred to the Hospital para el Niño of IMIEM for evaluation of extensive blistering lesions and absence of skin in lower limbs, present from birth and who after treatment showed improvement, with a favorable clinical evolution.

[Surgical management of aplasia cutis congenita]. / Manejo quirúrgico de la aplasia cutis congénita.

INTRODUCTION: Aplasia cutis congenita (ACC) is a rare congenital malformation that commonly involves the scalp, but can affect pericranium, bone and dura mater. Complications are rare, but can be fatal, so early treatment must be achieved. The treatment remains controversial with no consensus between the conservative and surgical approach. The aim of this study is to describe our experience in the management of ACC. MATERIAL AND METHODS: Retrospective review of the medical records of all children up to 14 years diagnosed with ACC and treated between 2000 and 2013. RESULTS: There were a total of 22 cases of ACC with lesions ranging from 1cm (0.79 cm(2)) to 14cm (153.94 cm(2)). ACC of the scalp was found in 18 cases, with 3 in extremities and 1 in trunk. Conservative treatment was performed on 9 patients and 13 underwent surgical treatment (8 primary closures, 2 plasties, 2 skin grafts, and 1 skin flap). Two patients died due to complications of other diseases not related with the ACC. CONCLUSIONS: ACC is a rare disease that can be fatal. A complete initial assessment to establish early treatment is necessary to prevent this. Surgery should be considered as an initial therapeutic option in defects >4cm (>12.6 cm(2)) as it prevents the risk of fatal complications.

Bart Syndrome: a rare entity / Síndrome de Bart: uma entidade rara

Introduction: Bart Syndrome is a rare inherited skin blistering disorder. It is also known as congenital transient mechano-bullous dermatosis and is one of the lesser known presentations of epidermolysis bullosa (EB). Case report: The objective of this report is to present a case of Bart Syndrome in a 3 day old newborn female baby. The skin lesions showed denuded areas with bullae rupturing easily to reveal painful eroded areas. Eroded lesions were distributed over the hands, feet, chest and on the face over the cheeks bilaterally. The lips were erythematous, eroded with tissue tags. Eroded, crustated lesions were seen on the labial mucosa and anterior palate. Histopathological examination revealed split localized to the epidermis. The epidermal layer above the spilt appeared to be normal. The basement membrane was intact, along with normal underlying connective tissue. Discussion: Management consisted of decompression of blisters followed by topical antibiotics. Oral corticosteroids were given for control of blistering, since they reduce collagenase activity. Avoidance of trauma is essential aspect of management: baby was nursed with care to prevent occurrence of new lesions. Therapy and counseling sessions were scheduled for the parents.

Introdução: A Síndrome de Bart é uma rara desordem hereditária cutânea bolhosa. Também conhecida comdermatose congênita transiente mecano-bolhosa, é uma das apresentações menos conhecidas de epidermólisebolhosa (EB). Relato de caso: O objetivo deste relato é apresentar um caso de Síndrome de Bart em um neonato(com três dias) do sexo feminino. As lesões de pele caracterizavam-se por áreas desnudas com lesões bolhosas derompimento fácil, revelando áreas erodidas dolorosas. As lesões erodidas estavam distribuídas pelos pés, mãos,peito e face, sobre as regiões malares. Os lábios estavam eritematosos e erodidos. Lesões erodidas e crostosasforam observadas na mucosa labial e no palato anterior. O exame histopatológico revelou fenda localizada naepiderme. A camada epidérmica acima da fenda apresentava normalidade. A membrana basal estava intactae o tecido conjuntivo subjacente normal. Discussão: O tratamento das lesões consistiu na descompressão dasbolhas seguida de uso de antibióticos tópicos. Foram administrados corticosteróides orais, para controle daslesões bolhosas, uma vez que estes reduzem a atividade da colagenase. Evitar o trauma é um aspecto essencialno tratamento desses casos. Assim, o bebê era manejado com cuidado para evitar novas lesões. Foram agendadassessões de terapia e aconselhamento aos pais.

Síndrome de Bart: reporte de caso / Bart's syndrome: a case report / Síndrome de bart: reporte de caso

El Síndrome de Bart es un trastorno congénito poco frecuente, caracterizado por la asociación de epidermolisis ampollosa, ausencia congénita localizada de piel y anormalidades ungueales. En éste artículo se reporta el caso de un neonato masculino remitido al Hospital Militar Central de Bogotá, para valoración de lesiones cutáneas extensas presentes desde el nacimiento, a quien se le diagnosticó Síndrome de Bart y quien después del tratamiento mostró mejoría, con una evolución acorde a la registrada en la literatura, en la que con el tiempo se va observando una gradual resolución...

Bart's Syndrome is a rare congenital disorder, characterized by the association of bullous epidermolysis, congenital absence of areas of skin and ungueal abnormalities. This is the report of a newborn male referred to the Hospital Militar Central in Bogotá, for evaluation of extensive cutaneous lesions present a birth, who was diagnoses with Bart's syndrome and who improved with treatment, showing a gradual resolution with time, in agreement with what is seen in the literature...

A Síndrome de Bart é um transtorno congênito pouco freqüente, caracterizado pela associação de epidermolisis bolhosa, ausência congênita localizada de pele e anormalidades ungueais. Neste artigo se reporta o caso de um neonato masculino remetido ao Hospital Militar Central de Bogotá, para valoração de lesões cutâneas extensas presentes desde o nascimento, a quem se lhe diagnosticou Síndrome de Bart e quem depois do tratamento mostraram melhoria, com uma evolução conforme à registrada na literatura, na que com o tempo se vai observando uma gradual resolução...