An unusual case of epidermolysis bullosa complicated by persistent oligoarticular juvenile idiopathic arthritis; lessons to be learned

Despoina Maritsi,Jemima E Mellerio,Despina Eleftheriou,Anna E Martinez,Clarissa A Pilkington

doi:10.1186/1546-0096-9-13

Abstract

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare and severe hereditary skin disease. Oligoarticular Juvenile Idiopathic Arthritis (JIA) although infrequent in the general paediatric population, is the most frequent type of autoimmune joint disease in children. While different in aetiology, both diseases are characterized by gradual deterioration in mobility and function. We report a female patient, diagnosed with RDEB at birth, who presented with inflammatory bowel disease (IBD) at the age of four years, and subsequently developed oligoarticular JIA at seven years of age, and discuss the diagnostic and treatment challenges of this unusual case. This report, besides presenting a unique case, also highlights the important issues that need to be taken into account when assessing and managing patients with such complex conditions.

Highlights

Recessive Dystrophic Epidermolysis Bullosa (RBED) is a rare and severe genetically determined disorder characterized by excessive susceptibility of the skin and mucosae to separate from the underlying tissues following mechanical trauma
The autoimmune bullous skin disease Epidermolysis Bullosa Aquisita (EBA) has been linked with other autoimmune conditions such as inflammatory bowel disease (IBD), systemic lupus erythematosus, Hashimoto’s thyroiditis and amyloidosis, there has not been any previous report of severe generalized Recessive Dystrophic Epidermolysis Bullosa (RDEB) associated with autoimmune conditions, such as arthritis
Her arthritis was treated with intra-articular joint injection (IAI) with triamcinolone hexacetonide; she was started on oral methotrexate (15 mg/m2/week) that failed to control her disease

Summary

Introduction

Recessive Dystrophic Epidermolysis Bullosa (RBED) is a rare and severe genetically determined disorder characterized by excessive susceptibility of the skin and mucosae to separate from the underlying tissues following mechanical trauma. A year following diagnosis, she presented with arthritis involving both knees and right hip; her bowel symptoms were incompletely controlled; nutrition was suboptimal (weight: < 5th centile, height: 10th centile), and she required intensive dietitian support. Her arthritis was treated with IAI with triamcinolone hexacetonide; she was started on oral methotrexate (15 mg/m2/week) that failed to control her disease. She subsequently developed two flares of her arthritis with no associated bowel symptoms, which was treated with IAI followed by physiotherapy and rehabilitation. Her nutritional status is satisfactory (weight and height: > 10th centile)

Discussion

Conclusion

Culpepper TL