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.

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.

A Case of Bart's Syndrome / 대한피부과학회지

Aplasia cutis congenita is a rare congenital skin defect that presents with sharply outlined ulcerations. The most common site of this disease is the scalp, yet when other areas of the body are involved, there is higher incidence of concomitant congenital diseases or malformations. Bart's syndrome is a rare inherited condition with congenital skin defects that are associated with epidermolysis bullosa. An infant presented with congenital skin defects on the leg, and the infant had recurrent bullous skin lesions on the both hands, feet, wrists and ankles. The skin defect caused only small scar formation and no handicap regarding function and appearance, yet continuously new bullous lesion developed and healed on the both distal extremities. He was diagnosed as suffering with epidermolysis bullosa with the histological findings of epidermal cleavage and negative direct immunofluorescence findings. Herein, we report on a case of Bart's syndrome that displayed aplasia cutis congenita over the lower extremities and skin blistering.

A Case of Bart's Syndrome

Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin with blistering and nail deformities 1-3. However, it is considered as any type of epidermolysis bullosa(EB) with localized congenital absence of the skin on the extremities. A 33-day-old fbmale baby was presented with congenital absence of the skin over the left shin and dorsa of both feet which were covered with the thin, translucent, and brown-red glistening membranes. Blistering of the right calf and left great toe nail deformity were also noted. She was diagnosed as a recessive dystrophic EB by the histopathological, ultra- structural and immunomapping studies.

Two Cases of Bart's Syndrome in Mother and Daughter

We experienced two cases of congenital localized skin defect and neonatal onset of relapsing subepidermal blisters associated with minor trauma in a female newborn infant and her mother. The mother of index case showed toe nail dystrophy at delivery of her daughter, but the index case did not reveal nail dystrophy until 14 months of age. The congenital skin defects healed with hypopigment, and mild atrophic scars and relapsing blisters healed without scars in both mother and daughter. These cases were considered as hereditary Bart's syndrome with respects to family history, clinical manifestations and histopathological findings.