Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease

Abstract

Abstract Background Gaucher disease (GD) is an autosomal recessive disease characterized by an inborn metabolic error. Although pain attributed to skeletal involvement is one of the most frequent symptoms of this condition, some patients may have neuropathic pain. Therefore, recent studies have analyzed the occurrence of peripheral polyneuropathy in patients with GD. In these studies, in cases when normal neurological examination and electroneuromyography were found, small fiber neuropathy (SFN) was investigated, mainly using skin biopsy and quantitative sensory testing. Case presentation We demonstrate the usefulness of the skin-wrinkling test performed by immersion in water for the evaluation of SFN in a 27-year-old woman with GD who presented with neuropathic pain. After excluding other causes, the main hypothesis was an association between SFN and GD, which was recently described in the literature and possibly underdiagnosed. Conclusions Although only skin biopsy can confirm the diagnosis of SFN, the skin-wrinkling test can be useful for the complimentary assessment of pain in patients with GD, owing to its easy application and wide availability.