# Jordans’ anomaly in Chanarin-Dorfman syndrome

## TL;DR

This paper describes a rare genetic disorder called Chanarin-Dorfman syndrome, characterized by skin issues and lipid metabolism defects, confirmed through genetic testing in a young patient.

## Contribution

The paper presents a clinical case confirming Chanarin-Dorfman syndrome through genetic sequencing and highlights Jordans’ anomaly as a key diagnostic feature.

## Key findings

- Peripheral blood smear revealed lipid vacuoles in PMNs and platelets, supporting the diagnosis of Chanarin-Dorfman syndrome.
- Genetic sequencing confirmed a mutation in the CGI-58 gene, linking it to defective lipid metabolism and dermatological symptoms.
- The syndrome's symptoms can be managed through dietary interventions targeting lipid accumulation.

## Abstract

Chanarin-Dorfman syndrome is a rare disease inherited in an autosomal recessive pattern whose prevalence does not exceed 130 cases worldwide.

A 4-year-old patient with generalized erythematous-desquamative ichthyosiform syndrome since birth. The main laboratory finding was persistent hypertransaminasemia. Supplementary studies included peripheral blood smear (PBS), which revealed the presence of multiple cytoplasmatic vacuoles in polymorphonuclear leukocytes (PMN) and platelets. Ichthyosiform lesions concomitant to the presence of lipid vacuoles in peripheral blood PMNs are signs of Chanarin-Dorfman syndrome. Diagnostic suspicion was confirmed by genetic sequencing.

Chanarin-Dorfman syndrome is characterized by a mutation in the CGI-58 gene. This gene is involved in the catabolism of long-chain triglycerides stored in cytoplasmic lipid droplets. Jordans’ anomaly is a congenital alteration characterized by the presence of multiple vacuoles in the granulocytic series due to defective lipid metabolism. In this syndrome, long-chain triglycerides build up in tissues, thereby causing dermatological manifestations that are controllable through diet.