Freckle | |
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Other names | Ephelides, ephelis |
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 term Sommersprossen.
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]
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.
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.
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]
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.
Melanin is a family of biomolecules organized as oligomers or polymers, which among other functions provide the pigments of many organisms. Melanin pigments are produced in a specialized group of cells known as melanocytes.
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 found in many mammals and birds. 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.
Red hair, also known as ginger hair, is a human hair color found in 2–6% of 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.
Human hair color is the pigmentation of human hair follicles and shafts due to two types of melanin: eumelanin and pheomelanin. Generally, the more melanin present, the darker the hair. Its tone depends on the ratio of black or brown eumelanin to yellow or red pheomelanin. Melanin levels can vary over time, causing a person's hair color to change, and one person can have hair follicles of more than one color. Some hair colors are associated with some ethnic groups because of the observed higher frequency of particular hair colors within their geographical region, e.g. straight, dark hair amongst East Asians, Southeast Asians, Polynesians, some Central Asians, and Native Americans; a large variety of dark, fair, curly, straight, wavy or bushy amongst Europeans, West Asians, some Central Asians, and North Africans; and curly, dark, and uniquely helical hair amongst Sub Saharan Africans. Bright red hair is found in some European populations, and hair turns gray, white, or "silver" with age.
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 that can produce a tanning effect without exposure to ultraviolet radiation, known as sunless tanning.
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.
Sunless tanning, also known as UV filled tanning, self tanning, spray tanning, or fake tanning, refers to the effect of a suntan without exposure to the Sun. Sunless tanning involves the use of oral agents (carotenids), or creams, lotions or sprays applied to the skin. Skin-applied products may be skin-reactive agents or temporary bronzers (colorants).
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.
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.
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.
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, but more commonly dark.
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.
Light skin is a human skin color that has a low level of eumelanin pigmentation as an adaptation to environments of low UV radiation. Due to migrations of people in recent centuries, light-skinned populations today are found all over the world. Light skin is most commonly found amongst the native populations of Europe, East Asia, West Asia, Central Asia, Siberia, and North Africa 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.
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.
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.
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.
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.
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.
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.