Focal Hyperhidrosis
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Focal hyperhidrosis, also known as primary hyperhidrosis, is a
disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...
characterized by an excessive sweating localized in certain body regions (particularly palms, feet and underarms). Studies suggest that this condition, affecting between 1% and 3% of the US population, seems to have a genetic predisposition in about two thirds of those affected. Focal
hyperhidrosis Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a benign physical burden, hyperhidrosis can deteriorate quality of life from a psycholog ...
is sometimes referred to as ''The Silent Handicap'', as it has a significant impact on the quality of life, affecting the individual socially, psychologically, emotionally and professionally.


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. 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 In genetics, the phenotype () is the set of observable characteristics or phenotypic trait, traits of an organism. The term covers the organism's morphology (biology), morphology or physical form and structure, its Developmental biology, dev ...
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. 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. 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 In molecular biology, messenger ribonucleic acid (mRNA) is a single-stranded molecule of RNA that corresponds to the genetic sequence of a gene, and is read by a ribosome in the process of synthesizing a protein. mRNA is created during the ...
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 Sweat glands, also known as sudoriferous or sudoriparous glands, , are small tubular structures of the skin that produce sweat. Sweat glands are a type of exocrine gland, which are glands that produce and secrete substances onto an epithelial sur ...
. 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. 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 Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is t ...
. 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.


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. Sweating patterns of focal hyperhidrosis are typically bilateral or symmetric and rarely occur in just one palm or one underarm.
Night sweats Night sweats, also referred to as nocturnal hyperhidrosis (Hyperhidrosis - a medical term for excessive sweating + nocturnal - night), is the repeated occurrence of excessive sweating during sleep Sleep is a sedentary state of mind and bo ...
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).


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 Aluminum chloride hexahydrate, sold under the brand name Hydrosal Gel among others, is a first-line treatment for excessive sweating. Clinical studies support the efficacy and low incidence of irritation of the 15% aluminum chloride and 2% salicyl ...
are usually first choice treatments for this condition. Topical agents for focal hyperhidrosis therapy include
formaldehyde Formaldehyde ( , ) (systematic name methanal) is a naturally occurring organic compound with the formula and structure . The pure compound is a pungent, colourless gas that polymerises spontaneously into paraformaldehyde (refer to section ...
lotion and topical
anticholinergics Anticholinergics (anticholinergic agents) are substances that block the action of the neurotransmitter called acetylcholine (ACh) at synapses in the central and peripheral nervous system. These agents inhibit the parasympathetic nervous sy ...
. These agents reduce perspiration by denaturing
keratin Keratin () is one of a family of structural fibrous proteins also known as ''scleroproteins''. Alpha-keratin (α-keratin) is a type of keratin found in vertebrates. It is the key structural material making up scales, hair, nails, feathers, ho ...
, in turn occluding the pores of the
sweat glands Sweat glands, also known as sudoriferous or sudoriparous glands, , are small tubular structures of the skin that produce sweat. Sweat glands are a type of exocrine gland, which are glands that produce and secrete substances onto an epithelial sur ...
. 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 Botulinum toxin, or botulinum neurotoxin (BoNT), is a neurotoxic protein produced by the bacterium '' Clostridium botulinum'' and related species. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromus ...
) injections (underarms, hands, feet, and other localized areas), electromagnetic/microwave energy
thermolysis Thermal decomposition, or thermolysis, is a chemical decomposition caused by heat. The decomposition temperature of a substance is the temperature at which the substance chemically decomposes. The reaction is usually endothermic as heat is req ...
of underarm sweat glands (miraDry), laser-assisted removal of the sweat glands (underarms), 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.


References


External links

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