Oral Giant Cell Granuloma in a Patient with Glycogen Storage Disease

Abstract

The glycogen storage disease (GSD) is a group of inherited disorders that involve deficiencies in the enzymes that metabolize glycogen. The purpose of the present paper is to report a rare case of GSD type 1b that presented both peripheral and central giant cell granuloma, and to discuss the possible explanation for this unusual finding. The use of corticosteroids in the management of central giant cell granuloma is also demonstrated.

A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy

“…GSD 1b and GCT of the mandible have previously been described in two other patients (Mortellaro et al 2005;Amaral et al 2009). Both were receiving G-CSF at the time of tumour occurrence.…”

“…It is interesting to note that the other two cases of GSD 1b who developed giant cell tumours were also on G-CSF (Mortellaro et al 2005;Amaral et al 2009). While generally accepted to be safe, a potential for carcinogenicity (Schipperus et al 1990).…”

“…Although the origins of giant cell tumours are unclear, it has been suggested that they may be derived from osteoclast progenitors (Liu et al 2003). It has been hypothesized that long term use of G-CSF promotes osteoclastogenesis resulting in giant cell tumours (Amaral et al 2009). G-CSF activates extracellular membrane receptors such as c-fms.…”

Inborn errors of metabolism and their impact in paediatric dentistry

“…Giant cell granulomas of the mandible have been reported in several cases of patients with glycogen storage disorder Ib. 34,36,37 These tumours have been postulated to occur as a sequelae of granulocyte colony stimulating factor (G-CSF), a therapy which aims to treat recurrent infections due to the neutropenia. It is also hypothesised that periodontal disease and its resultant chronic inflammation in addition to anomalous glycogen metabolism could act synergistically with the G-CSF to cause abnormal cellular differentiation and subsequent growth.…”

“…Giant cell granulomas of the mandible have been reported in several cases of patients with glycogen storage disorder Ib 34,36,37 . These tumours have been postulated to occur as a sequelae of granulocyte colony stimulating factor (G‐CSF), a therapy which aims to treat recurrent infections due to the neutropenia.…”