Ann Dermatol.  2009 Feb;21(1):49-52. 10.5021/ad.2009.21.1.49.

A Case of Non-Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa

• Kang GS
• Ko WT
• Kim JH
• Choi SM
• Kim AS
• Kim DH
• Suh MK

• KMID: 2172066
• DOI: http://doi.org/10.5021/ad.2009.21.1.49

Abstract

Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects of the ultrastructural entity known as the anchoring fibril, which results in separation of the sublamina densa. Recessive DEB (RDEB) is classified into Hallopeau-Siemens and non- Hallopeau-Siemens. We herein report on a case of non- Hallopeau-Siemens RDEB and there was no family history of this malady, and we present the clinical, histological and electron microscopy findings.

Keyword

Dystrophic epidermolysis bullosa; Non-Hallopeau-Siemens

MeSH Terms

Blister
Cicatrix
Epidermolysis Bullosa Dystrophica
Humans
Microscopy, Electron
Mucous Membrane
Nails
Skin
Wills

Figure

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  Fig. 1 (A) Bullae and erosions on the lower legs and feet. (B) Skin erosions and wound exudate on the dorsum of the left hand and fingers.

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  Fig. 2 Subepidermal blister formation and flattened rete ridges are observed (H&E, ×100).

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  Fig. 3 Electron microscopy showing the presence lamina densa (arrowhead) attached to epidermal keratinocytes at the roof of the cleft. Nu: nucleus of keratinocyte, bar=1.0µm (×15,000).

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