Epidermolysis bullosa in three Chinese neonates

Abstract

Epidermolysis bullosa (EB) is one of the rare blistering diseases that may present in the neonatal period. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies. Age of onset, symptomatology and prognosis of the various subtypes are varied. We describe three cases of EB dystrophica (EBD) followed at the paediatric dermatology clinic. All of them were symptomatic and diagnosed in the neonatal period. One patient had very severe disease and was confirmed to have the Hallopeau‐Siemens subtype with both copies of his entire chromosome three from his mother. This extremely rare mode of inheritance is known as uniparental isodisomy. The clinical course of the other two neonates was milder and suggested that they had the dominant form of EBD. Many issues associated with the disease may be encountered. Specifically, details in skin care, counselling and advice were provided and reinforced to the parents. A multidisciplinary approach with inputs from the neonatologists, paediatricians, dermatologists, plastic surgeons, dietitians, physiotherapists, occupational therapists, and special nurses are required to assure optimal outcome.

• Epidermolysis bullosa
• neonates