Work

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

Year: 2026

Type: article

Abstract: 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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.70332

Authors: Sophia Rafferty, Kate L. Wilson, Jennifer B. Mancuso, Nicole Larsen, Grace A. Osborne, Jacqueline Meadow

Institution: University of Michigan

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,920