[Cutaneous ulcers and glycogen storage disease type 1b]. / Ulcères cutanés au cours d'une glycogénose de type 1b.

ABSTRACT

BACKGROUND: Glycogen storage disease type 1b is a rare disorder caused by 6-glucose-phosphatase transport deficiency. It is characterised primarily by metabolic disorders combined with hypoglycaemia and hyperlactacidaemia and a predisposition to staphylococcal infections associated with polynuclear neutrophil abnormality. Herein, we report the case of a patient with glycogen storage disease type 1b who developed ulcers of the lower limbs and we discuss the possible significance of this association which, to our knowledge, has not yet been described in the medical literature. PATIENTS AND METHODS: A 38-year-old man, presenting glycogen storage disease type 1b diagnosed when he was 13 months old, was hospitalised for ulcers of the lower limbs occurring over the preceding five years. The patient had a quantitative polynuclear neutrophil deficit that was treated with filgrastim. The various ulcers all developed according to the same pattern, namely pustules progressing towards necrosis followed by painful ulceration. No fever or collection of pus was observed. A number of samples of pustules proved sterile while others contained Staphylococcus aureus, sensitive to numerous antibiotics. Histopathological examination proved relatively inconclusive and laboratory tests showed no vascular cause of the ulcers. DISCUSSION: Hypothetical diagnoses of staphylococcal ecthyma suggested by the neutrophil deficiency and of pyoderma gangrenosum were proposed but could not be confirmed with certainty. Involvement of other predisposing factors independent of the patient's glycogen storage disease cannot be ruled out. This combination, not previously reported, nevertheless deserves to be singled out, despite its as yet unclear significance.