A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report

Neurol Sci. 2024 Mar 4. doi: 10.1007/s10072-024-07397-9. Online ahead of print.

ABSTRACT

TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. Thus far, merely nine patients harboring five different variants (c.425 + 1G > A; c.413_414delinsAA, p. Ser138*; c.400C > T, p. Arg134*; c.636 + 3_ 636 + 6 del; c.4G > T, p. Glu2*) in TDP2 gene have been reported. Here, we describe the tenth patient with a novel variant (c.650del, p. Gly217GlufsTer7) and new phenotype (pituitary tumor and hyperhidrosis).

PMID:38433132 | DOI:10.1007/s10072-024-07397-9

Botulinum Toxin A and B for Palmoplantar Hyperhidrosis

Dermatol Ther (Heidelb). 2024 Mar 1. doi: 10.1007/s13555-024-01113-3. Online ahead of print.

ABSTRACT

INTRODUCTION: Hyperhidrosis is characterized by unpredictable, uncontrollable and excessive sweating. It occurs at rest and is not related to temperature. Hyperhidrosis is a common disorder that has a negative impact on quality of life (QoL). The aim of this quality assurance study was to investigate how treatment of palmoplantar hyperhidrosis with botulinum toxin A (BTX-A) and botulinum toxin B (BTX-B) led to improvement of patient reported outcome measures related to QoL.

METHODS: A total of 35 patients with palmar and/or plantar hyperhidrosis who had received BTX-A (Dysport®) and BTX-B (NeuroBloc®) for palmar hyperhidrosis and BTX-B for plantar hyperhidrosis were included in this study. In total, palms were injected with a median dose (low to high) of 400 (100-550) units BTX-A and a median dose (low to high) of 200 (200-500) units. BTX-B was used in the thenar and hypothenar areas to avoid muscle weakness. In the soles a total median dose (low to high) of 600 (475-1000) units BTX-B was injected.

RESULTS: At follow-up 2 weeks post-treatment, patients’ Dermatology Life Quality Index (DLQI) score improved from 13 to 2 (p < 0.001).

CONCLUSION: We found that BTX-A and BTX-B treatment for palmar hyperhidrosis and BTX-B treatment for plantar hyperhidrosis led to a substantial improvement of QoL.

PMID:38424385 | DOI:10.1007/s13555-024-01113-3

Surprising Resolution of Life-Long Severe Generalized Hyperhidrosis Post-angioplasty and Stenting

Cureus. 2024 Jan 17;16(1):e52451. doi: 10.7759/cureus.52451. eCollection 2024 Jan.

ABSTRACT

Hyperhidrosis (HH) is a condition characterized by excessive sweating beyond thermoregulation needs. HH can be primary with no known etiology or secondary, as a symptom of underlying medical disease or a side effect of certain medications. Furthermore, HH can be focal, affecting one or a few body parts, or generalized, affecting the entire body. We present the case of a 49-year-old male with a history of primary generalized HH as well as coronary artery disease whose HH symptoms surprisingly resolved following coronary angioplasty and stenting. This unprecedented outcome of the procedure points to a potential association between HH and coronary artery disease, proposing potential management of HH through cardiovascular workup. In light of this result, we suggest that patients exhibiting generalized primary HH undergo a thorough comprehensive cardiovascular workup.

PMID:38371051 | PMC:PMC10871155 | DOI:10.7759/cureus.52451

Primary hyperhidrosis: From a genetics point of view

J Family Med Prim Care. 2023 Dec;12(12):3028-3032. doi: 10.4103/jfmpc.jfmpc_1568_22. Epub 2023 Dec 21.

ABSTRACT

Primary hyperhidrosis is a disorder of profuse sweating which negatively influences a patient’s quality of life and is caused because of over-activation of the sympathetic nervous system. It was believed that hyperhidrosis is a condition limited to only anxious individuals; however, this hypothesis is discredited now. It has been found that people with a positive family history of primary hyperhidrosis are likely to suffer from this condition, suggesting a strong genetic basis. Genetic analysis has revealed a dominant autosomal pattern of inheritance with a variable degree of penetrance and is a sex-independent trait. It is a heterogeneous condition both genetically and clinically as different studies revealed variable genetics and clinical factors. There are no proper criteria for diagnosis as it is not treated as disease by most affected persons. Various studies revealed opposing results in localizing disease gene loci, so further genetic research is needed to pinpoint genes responsible for causing this debilitating condition. Gene expression profiling of human anxiety-causing genes in hyperhidrotic sufferers will also help to devise new treatment modalities. This review highlights the current genetic studies on hyperhidrosis, which may prove to be helpful in understanding the molecular mechanism governing hyperhidrosis.

PMID:38361865 | PMC:PMC10866286 | DOI:10.4103/jfmpc.jfmpc_1568_22

The Efficacy of Botulinum Toxin A in Treating Palmar Hyperhidrosis – a Literature Review

Maedica (Bucur). 2023 Dec;18(4):712-717. doi: 10.26574/maedica.2023.18.4.712.

ABSTRACT

Background:Palmar hyperhidrosis, a condition characterized by excessive sweating in the palms, considerably impacts the quality of life (QoL). Although various treatment modalities are available, the efficacy and safety of Botulinum toxin type A (BTX-A) needed further investigation. Methods:We conducted a literature review, with open-label, controlled trial, double-blind placebo-controlled and observational designs being eligible for inclusion, according to the PRISMA guidelines. Results:All the six selected studies consistently reported the efficacy of BTX-A in reducing symptoms of hyperhidrosis, without significant side effects. Botulinum toxin type A treatment was found to improve the QoL significantly, to reduce sweat rate and production and to have no detrimental effect on grip strength. The duration of the antisudorific effect also indicated the potential for long-term management of palmar hyperhidrosis with BTX-A. Conclusions:Our findings corroborated the effectiveness and safety of BTX-A in managing palmar hyperhidrosis across diverse patient outcomes and experiences. Botulinum toxin type A emerged as a promising treatment modality for this condition, capable of improving the QoL, reducing symptoms and offering long-term relief without significant side effects.

PMID:38348073 | PMC:PMC10859206 | DOI:10.26574/maedica.2023.18.4.712

The Efficacy of Long-Pulsed, 1064-nm Nd:YAG Laser Versus Aluminum Chloride 20% Solution in the Treatment of Axillary Hyperhidrosis

J Lasers Med Sci. 2023 Dec 29;14:e71. doi: 10.34172/jlms.2023.71. eCollection 2023.

ABSTRACT

Introduction: Hyperhidrosis (HH) refers to uncontrollable excessive sweating that has a significant negative impact on the quality of life. The aim of this study was to compare the efficacy and safety of the long-pulsed, 1064-nm Nd:YAG laser and aluminum chloride (ALCL3 ) 20% solution in axillary HH treatment. Methods: In this single-center, within-patient comparison clinical trial, 12 patients with axillary HH were treated monthly for 3 to 4 consecutive sessions with the long-pulsed, 1064-nm Nd:YAG laser system on one axilla, while the contralateral axilla was treated with ALCL3 20 % by the patient. Treatment response was evaluated by comparing the area of sweating at the end of each session and 6 months after treatment termination using the iodine starch test. Results: Both treatments led to the reduction of HH from baseline with the mean area of sweating reduced from 109.3±36.6 to 38.3±19.8 and from 92.5±31.6 to 35.6±17.1 in laser- and ALCL3-treated axilla respectively (Both P<0.001). In the 6-month follow-up, the area of sweating was 60.6±29.2 in the laser-treated armpit and 78.3±23.6 in the ALCL3-treated side, which were 45% and 14.4% lower compared to the baseline respectively. Adverse events were temporary, and none caused each of the treatments to be discontinued. Conclusion: The long-pulsed, 1064-nm Nd:YAG laser with hair reduction setting can stand as a potential therapeutic option for axillary HH since it is as effective as ALCL3. The therapeutic effect is superior in the long term for the laser; nevertheless, the beneficial effect of both treatments may lessen the following treatment cessation.

PMID:38318217 | PMC:PMC10843241 | DOI:10.34172/jlms.2023.71