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.

Dystrophic epidermolysis bullosa (DEB) is a group of heritable mechanobullous disorders that's characterized by blistering and scarring of the skin and mucosae and nail dystrophy that's all induced by minor trauma^1,2. The ultrastructural hallmark of DEB is tissue separation at the sublamina densa level, and this condition is usually associated with an abnormal quality or quantity of anchoring fibrils at the dermal-epidermal junction^1,3,4. Dystrophic epidermolysis bullosa is inherited either in an autosomal dominant or recessive mode^1,4. Recessive DEB (RDEB) is a much more serious form than dominant DEB, with the blistering generally being present from birth⁴. RDEB is classified into Hallopeau-Siemens and non-Hallopeau-Siemens². We describe here a case of non-Hallopeau-Siemens RDEB that was diagnosed based on the family history and the clinical, histological and electron microscopic findings.

A 3.50 kg girl, who was delivered spontaneously at full term in January 2008 at a private hospital, was noted to have multiple bullae and denuded skin on the first day after birth over the areas where pressure and friction were applied. She was transferred to the neonatal intensive care unit of our hospital and she was referred to the Department of Dermatology for further evaluation and management. There were no other dysmorphic features and the girl was hemodynamically stable. There was no apparent history of skin diseases in her family. Her dermatologic examination revealed multiple serous or hemorrhagic blisters and skin abrasion on both hands, the feet and the scalp, and these blisters and abrasions subsequently extended to the trunk (Fig. 1). The laboratory studies, including a complete blood cell count with the differentials, the blood chemistry, VDRL, urinalysis, stool examination for occult blood and an infantogram were within nomal limits or they were negative. Wound swabs were positive for growth of Staphylococcus aureus and enterobacter species. The skin biopsy specimen from the right thigh showed subepidermal blisters (Fig. 2). Direct immunofluorescence of the perilesional skin from the upper arm demonstrated no immune deposits. Electron microscopy showed the lamina densa attached to epidermal keratinocytes at the roof of the cleft, and this was compatible with the diagnosis of DEB (Fig. 3). Based on the family history and the clinical, histological and electron microscopic findings, this case was diagnosed as non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. She was treated with regular skin cleaning, dressings and 2% mupirocin ointment. She was also treated with phenytoin (7 mg/d), vitamin E (150 mg/d) and systemic antibiotics (amikacin 50 mg/d, vancomycin 240 mg/d) for 15 days, but no improvement was observed. She was scheduled to undergo genetic studies, but she was transferred to another tertiary hospital by her parent's wishes.