Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease
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 anal...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-11-01
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| Series: | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41983-023-00743-2 |
| _version_ | 1797577406946476032 |
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| author | Renata Dal-Prá Ducci Michelle Zonkowski Ribas Enzo Oku Martinazzo Otto Jesus Hernandez Fustes Paulo José Lorenzoni Claudia Suemi Kamoi Kay Rosana Hermínia Scola |
| author_facet | Renata Dal-Prá Ducci Michelle Zonkowski Ribas Enzo Oku Martinazzo Otto Jesus Hernandez Fustes Paulo José Lorenzoni Claudia Suemi Kamoi Kay Rosana Hermínia Scola |
| author_sort | Renata Dal-Prá Ducci |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T22:07:50Z |
| format | Article |
| id | doaj.art-d842150c2ea2475a84cc398f47de3195 |
| institution | Directory Open Access Journal |
| issn | 1687-8329 |
| language | English |
| last_indexed | 2024-03-10T22:07:50Z |
| publishDate | 2023-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Egyptian Journal of Neurology, Psychiatry and Neurosurgery |
| spelling | doaj.art-d842150c2ea2475a84cc398f47de31952023-11-19T12:44:46ZengSpringerOpenThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery1687-83292023-11-015911410.1186/s41983-023-00743-2Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher diseaseRenata Dal-Prá Ducci0Michelle Zonkowski Ribas1Enzo Oku Martinazzo2Otto Jesus Hernandez Fustes3Paulo José Lorenzoni4Claudia Suemi Kamoi Kay5Rosana Hermínia Scola6Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine Clinics Hospital Complex, Federal University of Paraná (CHC-UFPR)Federal University of Paraná (UFPR)Pontifical Catholic University of Paraná (PUCPR)Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine Clinics Hospital Complex, Federal University of Paraná (CHC-UFPR)Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine Clinics Hospital Complex, Federal University of Paraná (CHC-UFPR)Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine Clinics Hospital Complex, Federal University of Paraná (CHC-UFPR)Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine Clinics Hospital Complex, Federal University of Paraná (CHC-UFPR)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.https://doi.org/10.1186/s41983-023-00743-2Gaucher diseaseSmall fiber neuropathyPeripheral nervous system diseasesSkin wrinklingNeuropathic pain |
| spellingShingle | Renata Dal-Prá Ducci Michelle Zonkowski Ribas Enzo Oku Martinazzo Otto Jesus Hernandez Fustes Paulo José Lorenzoni Claudia Suemi Kamoi Kay Rosana Hermínia Scola Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease The Egyptian Journal of Neurology, Psychiatry and Neurosurgery Gaucher disease Small fiber neuropathy Peripheral nervous system diseases Skin wrinkling Neuropathic pain |
| title | Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease |
| title_full | Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease |
| title_fullStr | Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease |
| title_full_unstemmed | Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease |
| title_short | Usefulness of the skin-wrinkling test in a patient with probable small fiber neuropathy and Gaucher disease |
| title_sort | usefulness of the skin wrinkling test in a patient with probable small fiber neuropathy and gaucher disease |
| topic | Gaucher disease Small fiber neuropathy Peripheral nervous system diseases Skin wrinkling Neuropathic pain |
| url | https://doi.org/10.1186/s41983-023-00743-2 |
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