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

SFN is a group of neuropathies that involve sensory and autonomic fibers [6]. The main etiologies are metabolic, infectious, neurotoxic exposure, immune-mediated, and hereditary. However, up to 50% of patients have an undefined etiology [6, 10]. Among the idiopathic causes, new etiological possibilities are constantly emerging. GD was recently described, as shown in this case.

GD involves the progressive lysosomal storage of glucocerebroside in macrophages in the bones, bone marrow, liver, spleen, lungs, and nervous tissue [4, 11]. Although little described, the association between GD and polyneuropathies was observed in studies that found SFN in 21.4% and LFN in 10.7% of patients with GD [4].

The sensitivity of the skin wrinkling test ranges from 66% to 80% [5, 12]. One of the main reasons for this sensitivity is the fact that it is done on the hands and the condition usually starts in the feet [5]. However, the skin wrinkling test is a simple, inexpensive, and readily available examination that can be used for the characterization of small fiber involvement [7, 9, 12]. Studies have shown that the skin wrinkling test can be correlated with skin biopsy findings [6, 7], thus, proving to be a useful test mainly in the evaluation of SFN symptoms by general practitioners. The patient in this case, with absent wrinkling, presents probable SFN, corroborating the findings reported by Devigli et al. [3].

Another important point in the identification of SFN in patients with GD is the treatment, given that GD treatment usually includes enzyme replacement therapies [11], but the treatment of neuropathic pain differs from skeletal or inflammatory pain. Thus, an individual approach to each type of pain becomes essential [1].

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