2021
DOI: 10.1016/j.jdcr.2020.11.026
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A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis

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“…We have described, for the second time, the presence of congenital corneal cloudiness as a primary abnormality of the cornea in two EB patients: Patient 1 with a PLEC mutation and Patient 4 with an ITGB4 mutation. The first case of congenital corneal haziness in EB was recently described in a neonate with RDEB due to COL7A1 mutations (Sawka et al, 2021). Ocular manifestations in EB usually represent late complications following exposure keratitis and scarring of the eyelids.…”
Section: Discussionmentioning
confidence: 99%
“…We have described, for the second time, the presence of congenital corneal cloudiness as a primary abnormality of the cornea in two EB patients: Patient 1 with a PLEC mutation and Patient 4 with an ITGB4 mutation. The first case of congenital corneal haziness in EB was recently described in a neonate with RDEB due to COL7A1 mutations (Sawka et al, 2021). Ocular manifestations in EB usually represent late complications following exposure keratitis and scarring of the eyelids.…”
Section: Discussionmentioning
confidence: 99%