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Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review

Neurol Sci. 2023 Oct 31. doi: 10.1007/s10072-023-07141-9. Online ahead of print.

ABSTRACT

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that is now recognized to involve autonomic dysfunction. The burden of autonomic dysfunction is an important factor in the quality of life and prognosis of ALS patients. This article presents the clinical characteristics of a young female ALS patient with a fused in sarcoma (FUS) gene mutation and notable hyperhidrosis.

METHOD: Detailed clinical characteristics of the patients were collected, and comprehensive examinations such as electrophysiological assessment, neuro-ultrasound, genetic testing, and relevant blood tests were conducted.

RESULT: A 24-year-old female experienced progressive weakness in both lower limbs for over 5 months, along with excessive sweating on both palms and feet. A positive skin iodine-starch test was observed. Electromyography revealed extensive neurogenic damage and prolonged sympathetic skin response (SSR) latency in both lower limbs. Full exon gene sequencing showed a heterozygous mutation c.1574C>T (p.Pro525Leu) in the FUS gene.

CONCLUSION: The pathogenesis of ALS remains unclear at present. This case underscores the presence of autonomic nervous symptoms in ALS associated with FUS mutation and highlights the importance of early diagnosis and timely treatment intervention to enhance patient prognosis.

PMID:37904013 | DOI:10.1007/s10072-023-07141-9

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The success rate and associated risk factors of CT-guided percutaneous radiofrequency sympathectomy in the treatment of primary hyperhidrosis: A retrospective observational trial

J Clin Neurosci. 2023 Oct 25;118:81-89. doi: 10.1016/j.jocn.2023.10.010. Online ahead of print.

ABSTRACT

PURPOSE: The aim of this study was to investigate the success rate of surgical technique and associated risk factors based on the follow-up of patients who underwent CT-guided percutaneous radiofrequency sympathectomy (RFS) to treat primary hyperhidrosis (PH).

METHODS: 370 patients who underwent RFS for PH treatment between January 2018 and April 2022 were enrolled. Patients responded to a questionnaire and telephone follow-up on the effects of treatment and their electronic medical records and imaging findings were reviewed. Logistic regression was performed to identify risk factors related to the success rate of surgical technique.

RESULTS: A temperature difference ≥2 °C before and after procedure was defined as a successful surgical technique. Among the 370 patients (740 sides), 637 sides had successful RFS, and the technical success rate was 86.1 %. Immediately after procedure, 636 sides (85.9 %) were completely dry, 64 (8.7 %) were partially dry, and 40 (5.4 %) were still wet. During the longest follow-up period (54 months), 103 patients relapsed. The median hyperhidrosis disease severity scale score on both sides decreased from 4 to 1 after RFS. According to logistic regression analysis, only the pre-post pulse index was associated with the success rate of surgical technique (odds ratio, 1.14; 95 % confidence interval, 1.06-1.23; p = 0.0004).

CONCLUSIONS: We observed that the immediate efficiency and success rate of surgical technique after RFS for PH treatment were relatively high, although there is a possibility of recurrence in the long term. In general, RFS is a safe and effective procedure for alleviating the symptoms of patients with hyperhidrosis.

PMID:37890198 | DOI:10.1016/j.jocn.2023.10.010

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Machine learning analysis of primary hyperhidrosis for classification of hyperhidrosis type and prediction of compensatory hyperhidrosis

J Thorac Dis. 2023 Sep 28;15(9):4808-4817. doi: 10.21037/jtd-23-471. Epub 2023 Aug 23.

ABSTRACT

BACKGROUND: Although sympathectomy is highly effective for improving symptom, compensatory hyperhidrosis (CH) is a major issue. In this study, characteristics of primary hyperhidrosis were investigated in terms of the heart rate variability (HRV) parameters. Classification of hyperhidrosis type and prediction of CH after sympathicotomy were also determined using machine learning analysis.

METHODS: From March 2017 to December 2021, 128 subjects who underwent HRV tests before sympathicotomy were analyzed. T2 and T3 bilateral endoscopic sympathicotomy were routinely performed in patients with craniofacial and palmar hyperhidrosis, respectively. Data collected age, sex, body mass index (BMI), hyperhidrosis type, symptom improvement after sympathicotomy, the degrees of CH after sympathicotomy, and preoperative HRV findings. The independent risk factors associated with the degree of CH after sympathicotomy were investigated. Machine learning analysis was used to determine classification of hyperhidrosis type and prediction of the degree of CH.

RESULTS: Preoperatively, patients with palmar hyperhidrosis presented with significantly larger standard deviation of normal-to-normal (SDNN), root mean square of successive differences (RMSSD), total power (TP), and low frequency (LF) than patients with craniofacial hyperhidrosis after controlling for age and sex (P=0.030, P=0.004, P=0.041, and P=0.022, respectively). More sympathetic nervous predominance was found in craniofacial type (P=0.019). Low degree of CH had significantly greater RMSSD (P=0.047), and high degree of CH showed more sympathetic nervous predominance (P=0.006). Multivariate analysis showed the type and expansion of sympathicotomy were significant factors for CH (P=0.001 and P=0.028, respectively). The neural network (NN) algorithm outperformed and showed a 0.961 accuracy, 0.961 F1 score, 0.961 precision, 0.961 recall, and 0.972 area under the curve (AUC) for classification of hyperhidrosis type. The random forest (RF) model outperformed showed a 0.852 accuracy, 0.853 F1 score, 0.856 precision, 0.852 recall, and 0.914 AUC for prediction of the degree of CH.

CONCLUSIONS: The present study showed the machine learning algorithm can classify types and predict CH after sympathicotomy for primary hyperhidrosis with considerable accuracy. Further large-scale studies are needed to validate the findings and provide management guidelines for primary hyperhidrosis.

PMID:37868857 | PMC:PMC10586983 | DOI:10.21037/jtd-23-471

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Diltiazem for clozapine-induced generalized hyperhidrosis

Ment Health Clin. 2023 Aug 7;13(4):193-195. doi: 10.9740/mhc.2023.08.193. eCollection 2023 Aug.

ABSTRACT

BACKGROUND: Clozapine can be associated with significant side effects and tolerability issues. Hyperhidrosis occurs less commonly and is unanticipated by clinicians because of clozapine’s significant anticholinergic activity.

CASE REPORT: A 34-year-old female developed clozapine-induced nocturnal, generalized hyperhidrosis following initial titration to 400 mg/day. Dose reduction did not decrease the side effect. Treatment with an anticholinergic medication could not be initiated because of constipation. Treatment with a beta blocker resulted in worsening of asthma. Treatment with a calcium channel blocker, diltiazem CD 180 mg/day, resulted in a significant reduction in hyperhidrosis.

CONCLUSION: This case supports the use of calcium channel blockers to reduce clozapine-induced hyperhidrosis and offers an alternative to anticholinergic medications that may negatively impact clozapine tolerability.

PMID:37860588 | PMC:PMC10583255 | DOI:10.9740/mhc.2023.08.193

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Oxybutynin for Primary Palmer Hyperhidrosis Attenuates Migraine Attacks and Burdens

Cureus. 2023 Sep 7;15(9):e44826. doi: 10.7759/cureus.44826. eCollection 2023 Sep.

ABSTRACT

Migraine is a neurological disorder with recurrent headaches accompanied by burdens in social life. Primary palmar hyperhidrosis is a chronic condition with excessive sweating of the palms that can significantly impair quality of life. Primary hyperhidrosis can cause anxiety, and stress, including anxiety, is the most common inducer of migraine headaches. Recently, oxybutynin has been used for primary palmar hyperhidrosis. We herein describe a 26-year-old female migraine patient with primary palmar hyperhidrosis whose migraine attacks and burdens were attenuated after the prescription of an oxybutynin lotion formula. The patient’s monthly headache days (MHD) and monthly acute medication intake days (AMD) at the first visit were 10 and 9. Headache Impact Score 6 (HIT-6) at the initial visit was 63. After the prescription of Japanese herbal kampo medicine Goreisan (TJ-17), Goshuyuto (TJ-31), and 200 mg of valproic acid, MHD, AMD, and HIT-6 decreased gradually. However, these parameters could not improve sufficiently at nine months: MHD 4, AMD 4, and HIT-6 52. We first prescribed a lotion formulation of 20% oxybutynin hydrochloride at nine months. After this, migraine was further attenuated, and stress related to primary palmar hyperhidrosis was reduced; at 12 months, the patient had achieved MHD 2, AMD 2, and HIT-6 48. She will continue receiving primary palmar hyperhidrosis treatment while tapering off migraine prophylaxis. While the exact mechanisms connecting migraine and primary hyperhidrosis remain uncertain, this case raises important questions about the potential interplay between stress, sweating, and migraine triggers.

PMID:37818504 | PMC:PMC10561519 | DOI:10.7759/cureus.44826

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Efficacy of 5% sofpironium bromide gel in Duchenne muscular dystrophy with palmoplantar hyperhidrosis: A retrospective case study

J Dermatol. 2023 Oct 5. doi: 10.1111/1346-8138.16990. Online ahead of print.

ABSTRACT

Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease. Notably, several extramuscular manifestations and complications of advanced DMD, including skin disorders, are known. However, hyperhidrosis and its treatment have not been well-described in association with advanced DMD, therefore we aimed to confirm the efficacy of 5% sofpironium bromide gel in treating secondary hyperhidrosis in patients with advanced DMD. We retrospectively reviewed patients with advanced DMD who underwent treatment with 5% sofpironium bromide gel. All patients were evaluated using the hyperhidrosis disease severity scale (HDSS) score and by measuring the gravimetric weight of palmar and/or plantar sweat. Three patients with advanced DMD were treated and the patients were aged 28, 31, and 32 years, respectively. Their HDSS scores showed a decreasing tendency within 5 weeks after treatment. In addition, all patients had a decreased gravimetric weight of palmar and/or plantar sweat, and the mean decrease rate of palmar sweat at 7 weeks after treatment was 53.7%. One patient had skin dryness on both soles, but no serious adverse events were observed. Treatment using 5% sofpironium bromide gel showed beneficial efficacy against palmoplantar hyperhidrosis in patients with advanced DMD. These findings warrant further investigation in future studies.

PMID:37795807 | DOI:10.1111/1346-8138.16990

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Infrared thermography in the diagnosis of palmar hyperhidrosis: A diagnostic study

Med J Armed Forces India. 2023 Sep-Oct;79(5):560-564. doi: 10.1016/j.mjafi.2021.07.007. Epub 2021 Sep 23.

ABSTRACT

BACKGROUND: Primary hyperhidrosis is a common condition affecting 1-3% of the general population. Excessive sweating leads to reduced surface temperature due to evaporation that can be captured using a thermal camera. We performed this study to find the utility of thermography in the diagnosis of palmar hyperhidrosis.

METHODS: This was a cross-sectional diagnostic study conducted in a tertiary care dermatology center during the study period Apr 20-Mar 21. Adult patients with palmar hyperhidrosis diagnosed by expert dermatologists were recruited. The severity was assessed using the hyperhidrosis disease severity scale (HDSS). The measurements were done using a FLIR™ thermal camera. A pilot study, including 30 patients and 30 controls were performed. The results of the pilot study were used for the calculation of sample size.

RESULT: The study included 55 patients and 110 controls. The mean age of the patients and controls was 22.4 (±3) years and 21.7 (±2.5) years, respectively. The mean temperature difference in the patient and control group was found to be 19.6 (±3.3)0 F and 5.8 (±2.9)0 F, respectively (p < 0.001). A receiver operating characteristics curve (ROC) to assess the discriminatory ability of mean temperature difference in diagnosis of hyperhidrosis found the area under the curve (AUC) to be 0.995 and a temperature difference of 11.5 °F provides sensitivity and specificity of 98.2% and 97.3% for the diagnosis of hyperhidrosis.

CONCLUSIONS: Thermal imaging is a simple, noninvasive, and objective tool for the diagnosis of hyperhidrosis. It has potential utility in monitoring the effect of the treatment.

PMID:37719898 | PMC:PMC10499645 | DOI:10.1016/j.mjafi.2021.07.007

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Topical Anticholinergics in the Management of Focal Hyperhidrosis in Adults and Children: A Narrative Review

Actas Dermosifiliogr. 2023 Sep 13:S0001-7310(23)00733-0. doi: 10.1016/j.ad.2023.09.006. Online ahead of print.

ABSTRACT

Hyperhidrosis, or excessive sweating, is characterized by overactivity of the eccrine sweat glands, usually associated with dysfunction of the autonomic nervous system. Primary focal hyperhidrosis is the most common form and can affect the axillae, palms, soles, and/or face, often leading to significantly impaired quality of life and social functioning. Treatment is complex. Topical antiperspirants are normally recommended as the first-line treatment for mild hyperhidrosis. Multiple clinical trials and prospective studies support the efficacy and tolerability of oral and topical anticholinergics in the management of hyperhidrosis. Topical glycopyrronium, which has been investigated in at least 8 clinical trials enrolling more than 2000 patients, is probably the first-line pharmacological treatment for axillary hyperhidrosis in patients with moderate to severe disease poorly controlled with topical antiperspirants. Second-line treatments include botulinum toxin injections, microwave treatment, and oral anticholinergics. We review the use of topical anticholinergics in the management of focal hyperhidrosis in adults and children.

PMID:37714301 | DOI:10.1016/j.ad.2023.09.006

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Uniportal thoracoscopic sympathicotomy for hyperhidrosis

Multimed Man Cardiothorac Surg. 2023 Aug 24;2023. doi: 10.1510/mmcts.2023.053.

ABSTRACT

Video-assisted thoracoscopic sympathicotomy is the most widely used technique in the modern era for the treatment of primary hyperhidrosis. Primary hyperhidrosis is characterized by excessive sweating and significantly affects the quality of life in those who suffer from it. This video tutorial details a uniportal, drainless sympathicotomy performed by the cardiothoracic surgical team at St George Hospital, Sydney, Australia.

PMID:37615693 | DOI:10.1510/mmcts.2023.053