AI Summary & Key Takeaways
AI InsightThe patient presenting with the characteristic of edema, proteinuria, hypoalbuminemia and hyperlipidemia is diagnosed as nephrotic syndrome.This report describes the patient with epidermolysis bullosa associated with nephrotic syndrome and draws attention to the rare association.
📌 3 Key Takeaways
Abstract
Epidermolysis bullosa is a term applied to a group of hereditary disease in which blisters devel¬op on the skin in response to mechanical trauma. A 10 year old boy who was previously diag¬nosed as having recessive dystrophic epidermolysis bullosa, and was furter evaluated for genral-ized edema, is presented. The patient presenting with the characteristic of edema, proteinuria, hypoalbuminemia and hyperlipidemia is diagnosed as nephrotic syndrome.This report describes the patient with epidermolysis bullosa associated with nephrotic syndrome and draws attention to the rare association.
Özet
Epidermolizis bülloza mekanik travma sonucu deride bililerin geliştiği kalıtsal hastalık grubuna verilen isimdir. Daha önceden resesif distrofik epidermolizis bülloza tanısı almış olan 10 yaşındaki erkek çocuk yaygın ödem nedeni ile yatırıldı. Nefrotik sendromun karakteristik bulguları olan ödem, proteinüri, hipoalbuminemi ve hiperlipidemi mevcuttu. Bu yazı nefrotik sendrom ile birlikte epidermolizis bülloza olgusunu tanıtmakta ve bu seyrek birlikteliğe dikkat çekmektedir.