Congenital Skin Sloughing in the Setting of Hydrops Fetalis Secondary to Congenital Diffuse Lymphangiectasia Mimicking Epidermolysis Bullosa

We present a case where the combination of severe hydrops fetalis, lymphangiectasia, and skin desquamation created a clinical picture that masqueraded as epidermolysis bullosa (EB). A neonate presented at birth with severe hydrops fetalis and extensive skin sloughing. Skin biopsy findings were consistent with EB; however, the clinical course and genetic testing were inconsistent with this diagnosis, and the postmortem examination revealed the underlying cause to be severe congenital diffuse lymphangiectasia. It is important for clinicians to consider edema bulla and tissue hypoxia as a cause of skin blistering and sloughing in the setting of hydrops fetalis.