# A Rare Cause of Childhood Nephrotic Syndrome: AA Amyloidosis in Epidermolysis Bullosa

## TL;DR

This paper presents a rare case of kidney failure in a child with epidermolysis bullosa due to amyloidosis, highlighting the need for early disease management to prevent such complications.

## Contribution

The novelty lies in reporting a rare pediatric case linking EB with AA amyloidosis and its fatal kidney outcome.

## Key findings

- A six-year-old EB patient developed nephrotic syndrome due to AA amyloidosis confirmed by biopsy.
- The patient's condition progressed rapidly despite hemodialysis, resulting in death.
- The case underscores the importance of managing inflammation in EB to prevent amyloidosis.

## Abstract

Epidermolysis bullosa (EB) is a rare, heterogeneous, hereditary, chronic skin disorder with severe cutaneous and extracutaneous involvement. With the significant increase in survival of EB patients, kidney complications have become more common. Among the EB subtypes, recessive dystrophic epidermolysis bullosa (RDEB) is associated with the development of amyloidosis. Secondary amyloidosis affecting the kidneys in RDEB is fatal due to its rapid progression and difficulty in dialysis. Herein, we present the case of a six-year-old boy diagnosed with EB who was referred to our center due to nephrotic syndrome. A kidney biopsy revealed amyloidosis with positive Congo red staining and amyloid fibrils on electron microscopy. Despite undergoing hemodialysis, the patient died at home shortly afterward from an unknown cause. This case highlights the importance of a proactive approach in EB management, emphasizing disease and inflammation control to reduce the risk of amyloidosis and kidney failure.