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Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.

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OBJECTIVE The junctional form of epidermolysis bullosa (EB) is a recessively inherited mechanobullous disease in which minimal trauma results in blister formation at the dermal-epidermal junction. A rare form associated with pyloric atresia (JEB-PA) is a severe clinical subtype leading to rapid

Approach and Safety of Esophageal Dilation for Treatment of Strictures in Children With Epidermolysis Bullosa.

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OBJECTIVE The aim of the study is to analyze a large series of esophageal balloon dilations in patients with epidermolysis bullosa (EB) to determine procedural approach and frequency of post-endoscopic adverse events (AEs). METHODS Retrospective chart review for AE occurrence and clinical outcomes

Epidermolysis bullosa associated with congenital localized absence of skin, fetal abdominal mass, and pyloric atresia.

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A 2320-g male infant was delivered at 35 weeks gestation to a mother who had polyhydramnios. He had a combination of congenital localized absence of skin, unilateral hydronephrosis, and hydroureter due to ureterovesical obstruction, and nonbilious vomiting due to pyloric atresia. Blistering of the

Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature.

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The coexistence of congenital pyloric atresia (PA) and epidermolysis bullosa (EB) in newborns is a rare but distinct association. Mortality is high. In particular, a universally fatal outcome has been reported in neonates born with the junctional type of EB and PA. This has led some investigators to

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature.

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The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninety one cases have been reported in the literature to date. We present

Epidermolysis bullosa and congenital pyloric atresia.

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The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was

Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias).

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We describe the US findings in two vomiting newborns affected by different forms of pyloric atresia, a rare congenital anomaly that includes a spectrum of lesions limited to the antro-pyloric region of the stomach and with various inheritance mechanisms and syndromic associations.

Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa.

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A 10-month-old boy presented with a history of a generalized cutaneous bullous eruption since 3 months of age. Emesis, flush, pruritus, and fatigue had accompanied relapsing episodes of sometimes extensive blistering. Histopathology showed dense dermal infiltrates of mast cells on hematoxylin and

Pyloric atresia: A report of ten patients.

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Pyloric atresia (PA) is uncommon. It occurs in 1:100000 live births. Neonates usually present soon after birth with copious non-bilious vomiting. The treatment is surgical and its prognosis is poor, especially, when it is associated with epidermolysis bullosa (EB). The aim of this study was to

Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade.

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BACKGROUND Congenital pyloric atresia (CPA) is a rare anomaly with an incidence of 1 in 100,000 live births. Depending on the type of anomaly patients can either present in the neonatal period or later in life with subtle nonspecific signs and symptoms. We present our institute's experience in

[Pyloric atresia: a report of 3 cases].

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Pyloric atresia is a rare malformation of the alimentary tract. Fetal gastric dilatation and polihydramnios are the main prenatal sonographic findings. In 20% of the cases epidermolysis bullosa is associated. This is a group of genetic anomalies affecting the skin and mucous membranes, which appear

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