Reports on Scientific Meeting Annual Scientific Meeting 2017
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The speaker divided his lecture into three parts: 1) The blistering baby, 2) The red and scaly baby, 3) The baby with suspected genodermatoses. 1. The blistering baby. The case presented was a two-day-old baby with epidermolysis bul losa presenting with bl is ters and erosions s ince day 1 of l i fe. In the management of newborns with blistering disorders, other differential diagnoses e.g. sucking blister, herpes infection, bullous impetigo and bullous mastocytosis should be borne in mind. In the history, significant family history, early infant/childhood death and consanguinity should be asked for. If indicated after the clinical examination, the following investigations may be considered: microbiological investigation, histology, immunofluorescence mapping, electron microscopy, mutation analysis or genetic testing. The management of epidermolysis bullosa includes: prevention of blisters, wound care, pain control, feeding nutrition, management of infection, prevention of contractures, dental care, surveillance for squamous ce l l carc inoma, gene t i c counselling, gene therapy and cell therapy. 2. The red and scaly baby. A one-day-old baby presented with cellophane-l ike membrane from birth. The management approach in history taking, physical examination and investigation of babies with congenital ichthyoses is similar to the "blistering baby". The use of a humidified incubator, abundant emollients and multidisciplinary approach is necessary. 3. The baby with a suspected genodermatosis. In managing a baby with a suspected genodermatosis, history and physical examina t ion a re impor tan t to a id diagnosis. The clinical features should be noted, continuous follow-up, collaboration with colleagues from other specialties, and literature search. Whole exome/genome sequencing as last resort is usually helpful in determining the diagnosis.
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تاریخ انتشار 2017