Ann Dermatol.  2011 Sep;23(Suppl 1):S41-S44. 10.5021/ad.2011.23.S1.S41.

Case of Epidermolysis Bullosa with Pyloric Atresia

• Kim JH
• Park HY
• Lee HJ
• Eom M
• Choi EH

• KMID: 2156748
• DOI: http://doi.org/10.5021/ad.2011.23.S1.S41

Abstract

Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB with pyloric atresia. We report here on a case of concomitant occurrence of EB and pyloric atresia, a rare form of EB.

Keyword

Hemidesmosomal epidermolysis bullosa; Pyloric atresia

MeSH Terms

Basement Membrane
Blister
Ectodermal Dysplasia
Epidermolysis Bullosa
Gastric Outlet Obstruction
Methylmethacrylates
Muscular Dystrophies
Polystyrenes
Pylorus
Ectodermal Dysplasia
Gastric Outlet Obstruction
Methylmethacrylates
Polystyrenes
Pylorus

Figure

• 

  Fig. 1 Results of X-ray examination. There are no visible bowel gases on the abdominal X-ray except for a single large gastric bubble. In addition, an upper gastro-intestinal series with Gastrografin shows a 'single-bubble sign' representing the obstruction of the gastric outlet.

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  Fig. 2 Visual appearance of epidermolysis bullosa. Multiple, variably sized bullae, erosions, and crusted patches are scattered on the entire body but mainly on the extremities.

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  Fig. 3 Histopathologic, electron microscopy and immunohistochemical findings. (A) Histopathologic findings showing a separation between the epidermis and dermis at the level of the dermoepidermal junction (H&E, ×40, Inset: higher magnification view, H&E, ×100). (B) An electron micrograph showing the separation (*) in the lamina lucida. (C) Positive reaction of an immunohistochemical stain for plectin (×400).

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