ASPD Quiz Case 4
This is a premature baby girl born at 27 weeks gestation, with a birth weight of 620 g. Her length and occipital frontal circumference are appropriate for age. Her parents are non-consanguineous and healthy. Antenatal history was unremarkable. She presents at birth with extensive areas of raw denuded skin over both ears, upper limbs, lower limbs and around the umbilicus. She also had hypoplastic ears bilaterally with hypoplastic left lower limb (Figure A). The 2D echocardiogram showed a patent ductus arteriosus and small patent foramen ovale, with a structurally normal heart. A chest and abdominal radiograph done to check the position of her umbilical lines was found to be abnormal (Figure B).
1. What is your most likely diagnosis?
Dystrophic epidermolysis bullosa
Staphylococcal scalded skin syndrome
Intrauterine herpes simplex virus infection
Junctional epidermolysis bullosa with pyloric atresia
2. Which one investigation would you perform to clinch the diagnosis?
Skin swab for aerobic culture
Molecular genetic testing for Epidermolysis bullosa panel
Skin punch biopsy for electron microscopy
Blood herpes simplex virus PCR
Skin punch biopsy for hematoxylin and eosin stain
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