title: 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.
authors.affiliation: Dermatology Research Centre, Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong. ehon@cuhk.edu.hk
authors.forename: Kam-Lun Ellis
authors.initials: KL
authors.lastname: Hon
authors.forename: Andrew
authors.initials: A
authors.lastname: Burd
authors.forename: Paul Cheung-Lung
authors.initials: PC
authors.lastname: Choi
authors.forename: Nai-Ming Tommy
authors.initials: NM
authors.lastname: Luk
mesh_terms: D044466:Asian People; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000451:nursing* / Q000473:pathology*; D005260:Female; D006801:Humans; D007224:Infant Care / Q000379:methods*; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure; D017592:Skin Care / Q000379:methods*; D024182:Uniparental Disomy