Freckle

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Freckle
Other namesEphelides, ephelis
Vesnuschki.jpg
Slight facial freckles on a child
Specialty Dermatology

Freckles are clusters of concentrated melaninized cells which are most easily visible on people with a fair complexion. Freckles do not have an increased number of the melanin-producing cells, or melanocytes, but instead have melanocytes that overproduce melanin granules (melanosomes) changing the coloration of the outer skin cells (keratinocytes). As such, freckles are different from lentigines and moles, [1] which are caused by accumulation of melanocytes in a small area. Freckles can appear on all types of skin tones. Of the six Fitzpatrick skin types, they are most common on skin tones 1 and 2, which usually belong to North Europeans. However, it can also be found on people all over the world. In England a historical term for freckles is summer-voys, [2] sometimes spelt summervoise, which may be related to the German "summersprosse".

Contents

Biology

The formation of freckles is caused by exposure to sunlight. The exposure to UV-B radiation activates melanocytes to increase melanin production, which can cause freckles to become darker and more visible. This means that one who has never developed freckles may develop them suddenly following extended exposure to sunlight.

Freckles are predominantly found on the face, although they may appear on any skin exposed to the sun, such as arms or shoulders. Heavily distributed concentrations of melanin may cause freckles to multiply and cover an entire area of skin, such as the face. Freckles are rare on infants, and more commonly found on children before puberty. Upon exposure to the sun, freckles will reappear if they have been altered with creams or lasers and not protected from the sun, but do fade with age in some cases.

Freckles are not a skin disorder, but people with freckles generally have a lower concentration of photo-protective melanin, and are therefore more susceptible to the harmful effects of UV radiation. It is suggested that people whose skin tends to freckle should avoid overexposure to sun and use sunscreen. [3] [4]

Genetics

Women with freckles Freckled.jpg
Women with freckles

The presence of freckles is related to rare alleles of the MC1R gene, though it does not differentiate whether an individual will have freckles if they have one or even two copies of this gene. Also, individuals with no copies of the MC1R do sometimes display freckles. Even so, individuals with a high number of freckling sites have one or more of variants of the MC1R gene. Of the variants of the MC1R gene Arg151Cys, Arg160Trp, and Asp294His are the most common in the freckled subjects. [5] [6] [7] The MC1R gene is also associated with red hair more strongly than with freckles. Most red-haired individuals have two variants of the MC1R gene and almost all have one. [6] The variants that cause red hair are the same that cause freckling. [5] Freckling can also be found in areas, such as Japan, where red hair is not seen. These individuals have the variant Val92Met which is also found in Europeans, although it has minimal effects on their pigmentation. The R162Q allele has a disputed involvement in freckling. [8]

The variants of the MC1R gene that are linked with freckles started to emerge in the human genotype when humans started to leave Africa. The variant Val92Met arose somewhere between 250,000 and 100,000 years ago, long enough for this gene to be carried by humans into central Asia. Arg160Trp is estimated to have arisen around 80,000 years ago while Arg151Cys and Asp294His have been estimated to arise around 30,000 years ago. The wide variation of the MC1R gene exists in people of European descent because of the lack of strong environmental pressures on the gene. [9] The original allele of MC1R is coded for dark skin with a high melanin content in the cells. The high melanin content is protective in areas of high UV light exposure. [9] The need was less as humans moved into higher latitudes where incoming sunlight has lower UV light content. The adaptation of lighter skin is needed so that individuals in higher latitudes can still absorb enough UV for the production of vitamin D. [9] Freckled individuals tend to tan less and have very light skin, an adaptation to allow individuals that expressed these genes to synthesise sufficient vitamin D.

Freckles on a female face after summertime FrecklesAfterSummertime.jpg
Freckles on a female face after summertime

Types

Ephelides describes a freckle that is flat and light brown or red and fades with a reduction of sun exposure. Ephelides are more common in those with light complexions, although they are found on people with a variety of skin tones. The regular use of sunblock can inhibit their development.

Liver spots (also known as sunspots and lentigines) look like large freckles, but they form after years of exposure to the sun. Liver spots are more common in older people.

In culture

Western societies traditionally perceived freckles as imperfections. [10] For example, Pliny the Elder described freckles as spiritual and religious stains. [11]

This perception changed after the mid-20th century, when a tan, and the freckles associated with it, came to be desired as a status symbol indicating a life of leisure. [10] Freckles became increasingly fashionable in the late 20th century as a result of the 1960s "youthquake" movement and through association with popular figures such as the model Twiggy and the musician Jane Birkin. [10] In the early 2000s, freckled models were a trend in advertising and fashion. [10]

By the 2020s, the popularity of freckle tattoos further increased due to their popularity on social media such as TikTok. [10]

See also

Related Research Articles

<span class="mw-page-title-main">Human skin color</span>

Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is the result of genetics, exposure to the sun, disorders, or some combination thereof. Differences across populations evolved through natural selection or sexual selection, because of social norms and differences in environment, as well as regulations of the biochemical effects of ultraviolet radiation penetrating the skin.

<span class="mw-page-title-main">Melanin</span> Group of natural pigments found in most organisms

Melanin consist of oligomers or polymers arranged in a manner which among other functions provide the pigments of many organisms. Melanin pigments are produced in a specialized group of cells known as melanocytes. They have been described as "among the last remaining biological frontiers with the unknown".

<span class="mw-page-title-main">Melanocyte</span> Melanin-producing cells of the skin

Melanocytes are melanin-producing neural crest-derived cells located in the bottom layer of the skin's epidermis, the middle layer of the eye, the inner ear, vaginal epithelium, meninges, bones, and heart. Melanin is a dark pigment primarily responsible for skin color. Once synthesized, melanin is contained in special organelles called melanosomes which can be transported to nearby keratinocytes to induce pigmentation. Thus darker skin tones have more melanosomes present than lighter skin tones. Functionally, melanin serves as protection against UV radiation. Melanocytes also have a role in the immune system.

<span class="mw-page-title-main">Red hair</span> Human hair color

Red hair, also known as orange hair or ginger hair, is a human hair color found in 1–2% of the world population, appearing with greater frequency (2–6%) among people of Northern or Northwestern European ancestry and lesser frequency in other populations. It is most common in individuals homozygous for a recessive allele on chromosome 16 that produces an altered version of the MC1R protein.

<span class="mw-page-title-main">Human hair color</span> Pigmentation of human hair follicles

Human hair color is the pigmentation of human hair follicles due to two types of melanin: eumelanin and pheomelanin. Generally, if more melanin is present, the color of the hair is darker; if less melanin is present, the hair is lighter. The tone of the hair is dependent on the ratio of black or brown eumelanin to yellow or red pheomelanin. Levels of melanin can vary over time causing a person's hair color to change, and it is possible to have hair follicles of more than one color on the same person. Some hair colors are associated with some ethnic groups due to observed higher frequency of particular hair color within their geographical region, e.g. straight dark hair amongst East Asians, Southeast Asians, Polynesians, Central Asians and Native Americans, a large variety of dark, fair, curly, straight, wavy and bushy hair amongst Europeans, West Asians, Central Asians and North Africans, curly, dark, and uniquely helical hair with Sub Saharan Africans, whilst gray, white or "silver" hair is often associated with age.

The melanocyte-stimulating hormones, known collectively as MSH, also known as melanotropins or intermedins, are a family of peptide hormones and neuropeptides consisting of α-melanocyte-stimulating hormone (α-MSH), β-melanocyte-stimulating hormone (β-MSH), and γ-melanocyte-stimulating hormone (γ-MSH) that are produced by cells in the pars intermedia of the anterior lobe of the pituitary gland.

<span class="mw-page-title-main">Sun tanning</span> Darkening of skin in response to ultraviolet light

Sun tanning or tanning is the process whereby skin color is darkened or tanned. It is most often a result of exposure to ultraviolet (UV) radiation from sunlight or from artificial sources, such as a tanning lamp found in indoor tanning beds. People who deliberately tan their skin by exposure to the sun engage in a passive recreational activity of sun bathing. Some people use chemical products which can produce a tanning effect without exposure to ultraviolet radiation, known as sunless tanning.

<span class="mw-page-title-main">Equine coat color genetics</span> Genetics behind the equine coat color

Equine coat color genetics determine a horse's coat color. Many colors are possible, but all variations are produced by changes in only a few genes. Bay is the most common color of horse, followed by black and chestnut. A change at the agouti locus is capable of turning bay to black, while a mutation at the extension locus can turn bay or black to chestnut.

<span class="mw-page-title-main">Lentigo</span> Small pigment spots on skin

A lentigo is a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread. This means the hyperplasia of melanocytes is restricted to the cell layer directly above the basement membrane of the epidermis where melanocytes normally reside. This is in contrast to the "nests" of multi-layer melanocytes found in moles. Because of this characteristic feature, the adjective "lentiginous" is used to describe other skin lesions that similarly proliferate linearly within the basal cell layer.

<span class="mw-page-title-main">Chestnut (horse color)</span> Horse coat color

Chestnut is a hair coat color of horses consisting of a reddish-to-brown coat with a mane and tail the same or lighter in color than the coat. Chestnut is characterized by the absolute absence of true black hairs. It is one of the most common horse coat colors, seen in almost every breed of horse.

<span class="mw-page-title-main">Agouti-signaling protein</span> Protein-coding gene in the species Homo sapiens

Agouti-signaling protein is a protein that in humans is encoded by the ASIP gene. It is responsible for the distribution of melanin pigment in mammals. Agouti interacts with the melanocortin 1 receptor to determine whether the melanocyte produces phaeomelanin, or eumelanin. This interaction is responsible for making distinct light and dark bands in the hairs of animals such as the agouti, which the gene is named after. In other species such as horses, agouti signalling is responsible for determining which parts of the body will be red or black. Mice with wildtype agouti will be grey-brown, with each hair being partly yellow and partly black. Loss of function mutations in mice and other species cause black fur coloration, while mutations causing expression throughout the whole body in mice cause yellow fur and obesity.

<span class="mw-page-title-main">Black hair</span> Human hair color

Black hair is the darkest and most common of all human hair colors globally, due to large populations with this trait. This hair type contains a much more dense quantity of eumelanin pigmentation in comparison to other hair colors, such as brown, blonde and red. In English, various types of black hair are sometimes described as soft-black, raven black, or jet-black. The range of skin colors associated with black hair is vast, ranging from the palest of light skin tones to dark skin. Black-haired humans can have dark or light eyes.

<span class="mw-page-title-main">Labrador Retriever coat colour genetics</span> Genetics behind Labrador Retriever coat colour

The genetic basis of coat colour in the Labrador Retriever has been found to depend on several distinct genes. The interplay among these genes is used as an example of epistasis.

<span class="mw-page-title-main">Light skin</span> Human skin color

Light skin is a human skin color that has a low level of eumelanin pigmentation as an adaptation to environments of low UV radiation. Light skin is most commonly found amongst the native populations of Europe, West Asia, Central Asia, and Northeast Asia as measured through skin reflectance. People with light skin pigmentation are often referred to as "white" although these usages can be ambiguous in some countries where they are used to refer specifically to certain ethnic groups or populations.

<span class="mw-page-title-main">Sunburn</span> Burning of the skin by the suns radiation

Sunburn is a form of radiation burn that affects living tissue, such as skin, that results from an overexposure to ultraviolet (UV) radiation, usually from the Sun. Common symptoms in humans and other animals include red or reddish skin that is hot to the touch or painful, general fatigue, and mild dizziness. Other symptoms include blistering, peeling skin, swelling, itching, and nausea. Excessive UV radiation is the leading cause of (primarily) non-malignant skin tumors, which in extreme cases can be life-threatening. Sunburn is an inflammatory response in the tissue triggered by direct DNA damage by UV radiation. When the cells' DNA is overly damaged by UV radiation, type I cell-death is triggered and the tissue is replaced.

<span class="mw-page-title-main">Amelanism</span> Pigmentation abnormality

Amelanism is a pigmentation abnormality characterized by the lack of pigments called melanins, commonly associated with a genetic loss of tyrosinase function. Amelanism can affect fish, amphibians, reptiles, birds, and mammals including humans. The appearance of an amelanistic animal depends on the remaining non-melanin pigments. The opposite of amelanism is melanism, a higher percentage of melanin.

<span class="mw-page-title-main">Photoaging</span> Ultraviolet light-induced biological development over time

Photoaging or photoageing is a term used for the characteristic changes to skin induced by chronic UVA and UVB exposure. Tretinoin is the best studied retinoid in the treatment of photoaging.

<span class="mw-page-title-main">Melanistic mask</span> Dog coat pattern

A melanistic mask is a dog coat pattern that gives the appearance of a mask on the dog's face. The hairs on the muzzle, and sometimes entire face or ears, are colored by eumelanin instead of pheomelanin pigment. Eumelanin is typically black, but may instead be brown, dark gray, or light gray-brown. Pheomelanin ranges in color from pale cream to mahogany. The trait is caused by M264V (EM), a completely dominant allele (form) of the melanocortin 1 receptor gene.

<span class="mw-page-title-main">Melanocortin 1 receptor</span> Protein controlling mammalian coloration

The melanocortin 1 receptor (MC1R), also known as melanocyte-stimulating hormone receptor (MSHR), melanin-activating peptide receptor, or melanotropin receptor, is a G protein–coupled receptor that binds to a class of pituitary peptide hormones known as the melanocortins, which include adrenocorticotropic hormone (ACTH) and the different forms of melanocyte-stimulating hormone (MSH). It is coupled to Gαs and upregulates levels of cAMP by activating adenylyl cyclase in cells expressing this receptor. It is normally expressed in skin and melanocytes, and to a lesser degree in periaqueductal gray matter, astrocytes and leukocytes. In skin cancer, MC1R is highly expressed in melanomas but not carcinomas.

<span class="mw-page-title-main">Dark skin</span> Human skin color

Dark skin is a type of human skin color that is rich in melanin pigments. People with dark skin are often referred to as "black people", although this usage can be ambiguous in some countries where it is also used to specifically refer to different ethnic groups or populations.

References

  1. Kumar, Vinay, ed. (2005). Robbins and Cotran Pathologic Basis of Disease (7th ed.). Philadelphia: Elsevier Saunders. p. 1232. ISBN   0-8089-2302-1.
  2. "Possible medical facial blemish or condition unknown term".
  3. Hanson, K. M; Gratton, E; Bardeen, C. J (2006). "Sunscreen enhancement of UV-induced reactive oxygen species in the skin" (PDF). Free Radical Biology and Medicine. 41 (8): 1205–12. doi:10.1016/j.freeradbiomed.2006.06.011. PMID   17015167. S2CID   13999532.
  4. Garland C, Garland F, Gorham E (1992). "Could sunscreens increase melanoma risk?". Am J Public Health. 82 (4): 614–5. doi:10.2105/AJPH.82.4.614. PMC   1694089 . PMID   1546792.
  5. 1 2 Flanagan, N.; et al. (2000). "Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation". Human Molecular Genetics. 9 (17): 2531–2537. doi: 10.1093/hmg/9.17.2531 . hdl: 20.500.11820/ed3cb955-ec0f-4b4a-844e-cd806ca785ce . PMID   11030758.
  6. 1 2 Bastiaens, M.; et al. (2001). "The melanocortin-1-receptor gene is the major freckle gene". Human Molecular Genetics. 10 (16): 1701–1708. doi: 10.1093/hmg/10.16.1701 . PMID   11487574.
  7. Box, N. F; Duffy, D. L; Irving, R. E; Russell, A; Chen, W; Griffyths, L. R; Parsons, P. G; Green, A. C; Sturm, R. A (2001). "Melanocortin-1 Receptor Genotype is a Risk Factor for Basal and Squamous Cell Carcinoma". Journal of Investigative Dermatology. 116 (2): 224–229. doi: 10.1046/j.1523-1747.2001.01224.x . PMID   11179997.
  8. Yamaguchi, Kyoko; Watanabe, Chiaki; Kawaguchi, Akira; Sato, Takehiro; Naka, Izumi; Shindo, Misaki; Moromizato, Keiichi; Aoki, Kenichi; Ishida, Hajime; Kimura, Ryosuke (2012). "Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese". Journal of Human Genetics. 57 (11): 700–708. doi: 10.1038/jhg.2012.96 . PMID   22854540.
  9. 1 2 3 Harding, R. M.; et al. (2000). "Evidence for variable selective pressures at MC1R". American Journal of Human Genetics. 66 (4): 1351–1361. doi:10.1086/302863. PMC   1288200 . PMID   10733465.
  10. 1 2 3 4 5 Bahr, Sarah (2023-07-04). "Is It Freckle Juice? No, Freckle Tattoos". The New York Times. ISSN   0362-4331 . Retrieved 2023-07-05.
  11. Felton, Debbie (1999). "The Folklore of Ghosts". Haunted Greece and Rome: ghost stories from classical antiquity. Austin: University of Texas Press. ISBN   978-0-292-72507-2.. Citing Pliny, Natural History , 28.188, 30.16