Focal hyperhidrosis

Focal hyperhidrosis, also known as primary hyperhidrosis, is a disease characterized by an excessive sweating localized in certain body regions (particularly palms, feet and underarms). Recent studies have shown that this condition, affecting between 1% and 3% of the general population, seems to have a genetic origin.

Focal hyperhidrosis
Other namesprimary hyperhidrosis

Focal hyperhidrosis is sometimes referred to as The Silent Handicap,[1] as it has a significant impact on the quality of life, affecting the individual socially, psychologically, emotionally and professionally.[2]

Genetics

In 2006, researchers uncovered that primary palmar hyperhidrosis, referring to excess sweating on the palms of the hands and feet, maps to the gene locus 14q11.2-q13.[3] After this discovery, further research was conducted to examine if primary focal hyperhidrosis maps back to the same locus. In addition, researchers wanted to see if other previously unknown genes were responsible for different phenotypes among individuals with hyperhidrosis.

Based on previous research using mice and rats, researchers looked towards the role of aquaporin 5 (AQP5), a water channel protein, in human individuals with primary focal hyperhidrosis.[4] AQP5 has been identified as a candidate gene in many hyperhidrosis studies. Using a family that had members with primary focal hyperhidrosis, researchers found that there was no connection between primary focal hyperhidrosis and AQP5. There was also no significant connection between the gene 14q11.2-q13 locus, which was linked to primary palmar hyperhidrosis, and primary focal hyperhidrosis in this family.[5] Due to the inconclusive findings in the study, the question as to what are the genes and proteins that play a significant role in primary focal hyperhidrosis still remains.

The expression of the AQP5 protein and AQP5 mRNA was significantly higher in a patient group in comparison to the control group. In 2011, using a control group (individuals without primary focal hyperhidrosis) and a patient group (individuals with primary focal hyperhidrosis) researchers found that there was no difference between the number of sweat coils in the axillary sweat glands. This indicates that there is nothing morphologically different between individuals with and without primary focal hyperhidrosis. The discrepancies between the studies above call on further studies to confirm or deny the role of AQP5, and the role of other proteins, in hyperhidrosis.[6]

Beyond looking at the genes and individual proteins that play a role in primary focal hyperhidrosis, researchers have looked at the patterns of heredity for this trait. In a 2003 study, using multiple families, researchers found that primary focal hyperhidrosis was not a sex-linked gene, since male-to-male transmission was seen in multiple families. Instead evidence supported an autosomal dominant pattern of inheritance with an incomplete disease penetrance. 21 patients in this study reported a positive family history of hyperhidrosis (62%). Researchers were able to uncover this by creating pedigrees of all the participants in the study. Not every member of the pedigree exhibited forms of hyperhidrosis, which allowed the researchers to track the patterns of inheritance. The findings in this study indicated that primary focal hyperhidrosis is typically an hereditary disorder.[7]

Diagnosis

Typical regions of excessive sweating include the hand palms, underarms, the sole of the foot, and sometimes groin, face, and scalp. Indeed, profuse sweating is present mostly in the underarms, followed by the feet, palms and facial region.[8] Sweating patterns of focal hyperhidrosis are typically bilateral or symmetric and rarely occur in just one palm or one underarm. Night sweats or sweating while sleeping is also rare. The onset of focal hyperhidrosis is usually before the age of 25 years. This is in contrast to generalized hyperhidrosis which tends to occur in an older age group.

Evidence demonstrates that a positive family history is also present (see the Genetics part).[9]

Treatments

The Canadian Hyperhidrosis Advisory Committee has published a comprehensive set of guidelines which outlines key aspects of treatment related to this condition. Topical hyperhidrosis gels containing aluminum chloride hexahydrate are usually first choice treatments for this condition.[2] Topical agents for Focal hyperhidrosis therapy include Formaldehyde lotion, topical anticholinergics... These agents reduce perspiration by denaturing keratin, in turn occluding the pores of the sweat glands. They have a short-lasting effect. Contact sensitization is increased, especially with formalin.

In addition to topical antiperspirants (whose main active ingredients usually are aluminum or zirconium salts) treatment options include: iontophoresis (hands, feet), onabotulinumtoxinA (Botox) injections (underarms, hands, feet, and other localized areas),[10] electromagnetic/microwave energy thermolysis of underarm sweat glands (miraDry),[11] laser-assisted removal of the sweat glands (underarms),[12] other local procedures such as liposuction and curettage of the sweat glands (underarms), medications of the anticholinergic type that are taken by mouth, and sympathectomy surgery for sweating of the hands or head that can't be controlled by other means.[12]

References
  1. Swartling, Carl; et al. (2011). "Hyperhidros - det "tysta" handikappet". Läkartidningen (in Swedish). 108 (47): 2428–2432.
  2. Solish, Nowell; et al. (2007). "A Comprehensive Approach to the Recognition, Diagnosis, and Severity-Based Treatment of Focal Hyperhidrosis: Recommendations of the Canadian Hyperhidrosis Advisory Committee". Dermatologic Surgery. 33 (8): 908–923. doi:10.1111/j.1524-4725.2007.33192.x. PMID 17661933.
  3. Higashimoto, Ikuyo; Yoshiura, Koh-Ichiro; Hirakawa, Naomi; Higashimoto, Ken; Soejima, Hidenobu; Totoki, Tadahide; Mukai, Tsunehiro; Niikawa, Norio (2006). "Primary palmar hyperhidrosis locus maps to 14q11.2-q13". American Journal of Medical Genetics Part A. 140A (6): 567–72. doi:10.1002/ajmg.a.31127. PMID 16470694.
  4. Gresz, V.; Kwon, T; Gong, H; Agre, P.; Steward, M; King, L; Nielsen, S. (2004). "Immunolocalization of AQP-5 in rat parotid and submandibular salivary glands after stimulation of inhibition of secretion in vivo". American Journal of Physiology. Gastrointestinal and Liver Physiology. 289 (1): 151–161. doi:10.1152/ajpgi.00480.2003. PMID 14988067.
  5. Del Sorbo, F.; Brancati, F.; De Joanna, G.; Valente, E.; Lauria, G.; Albanese, A. (2011). "Primary focal hyperhidrosis in a new family not linked to known loci". Dermatology. 223 (4): 335–342. doi:10.1159/000334936. PMID 22237135.
  6. Du, G.; Min, M.; Yang, J.; Chen, J.; Tu, Y. (2016). "Overexpression of AQP5 Was Detected in Axillary Sweat Glands of Primary Focal Hyperhidrosis Patients". Dermatology. 232 (2): 150–155. doi:10.1159/000444081. PMID 26930592.
  7. Kaufmann, H.; Saadia, D.; Polin, C.; Hague, S.; Singleton, A.; Singleton, A. (2003). "Primary hyperhidrosis--evidence for autosomal dominant inheritance". Clinical Autonomic Research Journal. 13 (2): 96–98. doi:10.1007/s10286-003-0082-x. PMID 12720093.
  8. Haider, Aamir & Solish, Nowell (2005). "Focal hyperhidrosis: diagnosis and management". Canadian Medical Association Journal. 172 (1): 69–75. doi:10.1503/cmaj.1040708. PMC 543948. PMID 15632408.
  9. Walling, Hobart W. (2011). "Clinical differentiation of primary from secondary hyperhidrosis". Journal of the American Academy of Dermatology. 64 (4): 690–695. doi:10.1016/j.jaad.2010.03.013. PMID 21334095.
  10. Stashak, AB; Brewer, JD (29 October 2014). "Management of hyperhidrosis". Clinical, Cosmetic and Investigational Dermatology. 7: 285–99. doi:10.2147/CCID.S53119. PMC 4218921. PMID 25378942.
  11. Jacob, C (March 2013). "Treatment of hyperhidrosis with microwave technology". Seminars in Cutaneous Medicine and Surgery. 32 (1): 2–8. PMID 24049923.
  12. Brown, AL; Gordon, J; Hill, S (August 2014). "Hyperhidrosis: review of recent advances and new therapeutic options for primary hyperhidrosis". Current Opinion in Pediatrics. 26 (4): 460–5. doi:10.1097/mop.0000000000000108. PMID 24905102.
Classification
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