Papular xanthomas and erosive arthritis in a 3 year old girl, is this a new MRH variant?

Catalina Matiz,Andrea Zaenglein,Catherine April Bingham,Brandt Groh,Polly J Ferguson

doi:10.1186/1546-0096-7-15

Abstract

Xanthomatous skin lesions and arthritis in children are not a common association. We present the case of a 3 year old girl who presented with xanthomatous lesions in the periungual region of both hands, around the nares and on her forehead, associated with significant arthritis that was clinically compatible with multicentric reticulohistiocytosis. However, pathology of the xanthomatous lesions was more suggestive of papular xanthoma, a disease that is not associated with arthritis. Based on her presentation and the negative lipid workup, she was treated for presumed multicentric reticulohistiocytosis. Multiple treatment strategies were utilized, with improvement on a combination of infliximab, methotrexate, and prednisone. We review the different diagnoses that should be considered in children with xanthomas and arthritis as well as the different pharmacologic therapies used in children with multicentric reticulohistiocytosis.

Highlights

The most common xanthomatous disorders seen in childhood including xanthoma disseminatum, papular xanthoma, and benign cephalic histiocytosis are not associated with arthritis
When a child presents with xanthomas, arthritis, and elevated lipid levels, familial hyperlipidemia type II and sitosterolemia must be considered; when the lipid levels are normal, the differential includes Von Gierke glycogen storage disease, Farber disease, multicentric reticulohistiocytosis (MRH), and familial and histiocytic dermatoarthritis
We present a case report of a 3 year old female with a clinical picture most consistent with MRH but with pathology more suggestive of papular xanthoma

Summary

Introduction

When a child presents with xanthomas, arthritis, and elevated lipid levels, familial hyperlipidemia type II and sitosterolemia must be considered; when the lipid levels are normal, the differential includes Von Gierke glycogen storage disease, Farber disease, multicentric reticulohistiocytosis (MRH), and familial and histiocytic dermatoarthritis. We present a case report of a 3 year old female with a clinical picture most consistent with MRH but with pathology more suggestive of papular xanthoma.

Results

Conclusion