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Literature DB >> 24781346

A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.

Scott S Short¹, Christa N Grant, Demetri Merianos, Dana Haydel, Henri R Ford.

Abstract

Pyloric atresia with epidermolysis bullosa (EB) dystrophica is a rare entity that may not be immediately recognized. We describe the fourth confirmed case of pyloric atresia associated with the dystrophic subtype of EB diagnosed by standard pathologic measures, and discuss the clinical disease features and recent advances in the pathophysiology.

Entities: Disease

Mesh：

Year: 2014 PMID： 24781346 DOI： 10.1007/s00383-014-3505-y

Source DB: PubMed Journal: Pediatr Surg Int ISSN： 0179-0358 Impact factor: 1.827

17 in total

1. Dominant dystrophic epidermolysis bullosa associated with pyloric stenosis and congenital absence of skin.

Authors: O Dereure; J Vailly; B Lagrange; G Meneguzzi; J P Ortonne; B Guillot
Journal: Arch Dermatol Date: 2001-05

Review 2. The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature.

Authors: G G Lestringant; S R Akel; K I Qayed
Journal: Arch Dermatol Date: 1992-08

3. Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.

Authors: R Wallerstein; M L Klein; N Genieser; L Pulkkinen; J Uitto
Journal: Pediatr Dermatol Date: 2000 Jul-Aug Impact factor: 1.588

A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.

1. Dominant dystrophic epidermolysis bullosa associated with pyloric stenosis and congenital absence of skin.

Review 2. The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature.

3. Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.

4. Pyloric atresia and epidermolysis bullosa.

5. Pyloric atresia associated with epidermolysis bullosa.

6. Familial pyloric atresia associated with epidermolysis bullosa.

7. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

8. Pyloric atresia and epidermolysis bullosa letalis: a lethal combination in two premature newborn siblings.

9. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

10. Pyloric atresia associated with epidermolysis bullosa--three cases presenting in three months.

Review 1. Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings