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Dermatogenetics

Keloid susceptibility

Keloids are raised, overgrown scars that can develop after skin injury. Keloid susceptibility means certain genetic factors make some people more likely to develop these scars, often affecting areas like the chest, shoulders, and earlobes.

Polygenic / Complex Dermatogenetics OMIM:148100
Variable
Prevalence
Population estimate
Many
Genetic architecture
Polygenic - many common-variant loci

Overview

Keloid susceptibility describes a tendency for certain individuals to develop keloids, which are distinctive, raised scars. Unlike typical scars that remain within the boundaries of the original wound, keloids grow beyond these limits, sometimes becoming much larger than the initial injury [PMID:33659223]. They are a type of benign fibrous growth resulting from an overgrowth of scar tissue. While anyone can develop a scar, those with keloid susceptibility are more prone to forming these specific types of scars even after minor skin trauma, such as piercings, acne, or surgical incisions. The exact prevalence of keloids varies across different populations, with higher rates observed in individuals of African, Hispanic, and Asian descent compared to Caucasian populations [PMID:24075133].

Symptoms & clinical features

The primary symptom of keloid susceptibility is the development of keloids themselves. These scars typically appear as firm, rubbery, shiny, and raised lesions that can be flesh-coloured, pink, or red. They may also be darker than the surrounding skin. Keloids often cause symptoms such as itching, pain, tenderness, and a burning sensation. In some cases, they can restrict movement if they form over a joint [PMID:33659223]. Keloids can develop weeks or months after the initial skin injury and may continue to grow over time. Common sites for keloid formation include the chest, shoulders, upper back, earlobes (especially after piercing), and sometimes the face.

Video: Genetics 101

Affected organs

Keloids primarily affect the skin, as they are a disorder of fibrous tissue overgrowth in response to skin trauma. While they do not affect internal organs, they can appear on any area of the body where the skin has been injured. The most commonly affected areas are those under tension or with less fat, such as the earlobes, shoulders, chest, and upper back. Keloids forming in visible areas can have a significant impact on an individual's self-esteem and quality of life due to their appearance and associated symptoms like itching or pain.

Multiple body systems
Multiple body systems
Systemic involvement
Cellular impact
Cellular impact
Mechanism at cellular level

Risks & severity

The severity of keloid susceptibility varies widely; some individuals may develop only a single keloid, while others experience multiple, large, or recurring keloids. The risk of developing keloids is influenced by a combination of genetic and environmental factors. Individuals with a family history of keloids are at a significantly higher risk, suggesting a strong genetic component [PMID:24075133]. While keloids are benign (non-cancerous) growths, they can cause considerable distress due to their appearance, discomfort, and potential for functional impairment. There is no typical age of onset, as keloids can appear at any age following skin injury, though they are often observed after puberty and before middle age. The risk of keloid formation is higher after certain types of injury, such as burns, surgical incisions, or inflammatory skin conditions like acne or folliculitis.

Genetic causes

Keloid susceptibility is considered a polygenic or complex condition, meaning it is influenced by multiple genes acting together with environmental factors. Research suggests several genes may contribute to this predisposition. For example, variants in the *FOXL2* gene have been implicated in keloid formation. *FOXL2* encodes a protein that plays a role in cell growth and differentiation, and changes in its function may contribute to the abnormal collagen deposition seen in keloids [PMID:36506306]. Another gene, *MYO1E*, which codes for a type of myosin protein involved in cell structure and movement, has also been associated with keloid susceptibility. Disruptions in these genes may lead to an altered wound healing response, resulting in excessive scar tissue formation. The exact mechanisms by which these genetic variations contribute to keloid development are still being investigated, but they are thought to affect processes like inflammation, fibroblast activity, and collagen synthesis.

Inheritance pattern

Keloid susceptibility follows a polygenic or complex inheritance pattern. This means that an individual's risk of developing keloids is influenced by multiple genes working together, as well as by environmental factors. It does not follow a simple Mendelian inheritance pattern (like dominant or recessive). If someone in your family has keloids, you may have an increased chance of developing them, but it is not guaranteed. The risk to close relatives is higher than in the general population, reflecting the genetic component. However, the exact combination of genes and environmental triggers needed for keloid formation can vary significantly among individuals.

Diagnosis & testing

The diagnosis of keloid susceptibility is primarily clinical, based on the characteristic appearance of keloids. A healthcare professional, typically a dermatologist, will examine the skin lesions and take a detailed medical history, including any family history of keloids or history of skin trauma. While there are no specific diagnostic genetic tests routinely used to confirm keloid susceptibility in the NHS, genetic testing may be offered in a research setting to identify associated genetic markers. Referrals for specialist assessment, often within dermatology or plastic surgery, can be made by a GP. If genetic testing were considered, it would fall under the NHS Genomic Medicine Service (GMS) framework, potentially accessed via an R-code within the 'Skin diseases' domain, though this would typically be for specific research or very rare, severe presentations rather than general susceptibility.

Management & lifestyle

Managing keloid susceptibility focuses on prevention and treatment of existing keloids, tailored to the individual's condition. The primary preventative measure is to avoid unnecessary skin trauma, such as elective cosmetic procedures, tattoos, and piercings, especially in individuals with a known predisposition. If surgery is necessary, specific techniques and post-operative care may be recommended to reduce keloid risk. Treatment for existing keloids can involve a variety of approaches, often used in combination. These may include corticosteroid injections into the keloid, silicone gel sheeting or pressure dressings, cryotherapy (freezing), laser therapy, and surgical removal followed by adjunctive therapies to prevent recurrence. A dermatologist or plastic surgeon typically guides these management strategies. Individuals with keloid susceptibility are encouraged to discuss their options with a healthcare professional to create a personalised care plan within the NHS framework.

UK care pathway

In the UK, individuals concerned about keloid susceptibility or existing keloids would typically start by consulting their General Practitioner (GP). The GP can offer initial advice and, if appropriate, refer to a specialist, usually a dermatologist or plastic surgeon, for further assessment and management. Genetic counselling is not typically offered for general keloid susceptibility but may be considered in research contexts or for very unusual presentations. While specific NHS R-codes for diagnosing general keloid susceptibility are not routinely used, severe or complex skin conditions fall under the NHS Genomic Medicine Service (GMS) pathways, ensuring access to specialist care where indicated.

Frequently asked questions

What is the difference between a keloid and a normal scar?

A normal scar typically forms within the boundaries of the original wound. A keloid, however, grows beyond these boundaries, becoming larger and often raised, firm, and shiny. Keloids can also cause symptoms like itching and pain, which are less common with normal scars.

Can keloids be prevented?

For individuals with keloid susceptibility, complete prevention can be challenging. However, avoiding unnecessary skin trauma like elective piercings or tattoos is recommended. If surgery is required, discuss your keloid history with your surgeon as specific techniques might reduce the risk.

If I have keloids, will my children get them?

Keloid susceptibility has a genetic component, meaning if you have keloids, your children may have an increased risk of developing them. However, it's not a certainty, as keloid formation is influenced by multiple genes and environmental factors.

Are keloids dangerous?

Keloids are benign, meaning they are not cancerous and do not spread to other parts of the body. While not dangerous in a life-threatening sense, they can cause discomfort, pain, itching, and cosmetic concerns, potentially impacting an individual's quality of life.

What treatments are available for keloids?

Various treatments can help manage keloids, including steroid injections, silicone gel sheets, pressure dressings, cryotherapy (freezing), laser therapy, and surgical removal. Often, a combination of these methods is used to achieve the best results, under the guidance of a dermatologist or plastic surgeon.

References

  1. Li D, Li M, Gao H. Integrative multiomics analysis reveals association of gut microbiota and its metabolites with susceptibility to keloids. Frontiers in microbiology. 2024. PMID: 39669776
  2. CROCKETT DJ. REGIONAL KELOID SUSCEPTIBILITY. British journal of plastic surgery. 1964. PMID: 14191128
  3. Luo Q, Zhu X, Zhou H. Integrated multi-omics analysis reveals key molecular mechanisms underlying fibroproliferation and immune dysregulation in keloids. Functional & integrative genomics. 2026. PMID: 42412240
  4. Zhan Y, Tong Y, Wu X. Association between keloid and mental disorders: perspective from genetic evidence. Annals of general psychiatry. 2025. PMID: 40611270
  5. Sang PF, Wang H, Wang M. NEDD4-1 and PTEN expression in keloid scarring. Genetics and molecular research : GMR. 2015. PMID: 26535660
  6. Marneros AG, Norris JE, Watanabe S. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. The Journal of investigative dermatology. 2004. PMID: 15140214
  7. Chau NH, Le HT, Huynh PA. Association of interleukin-6 rs1800796 polymorphism with keloid susceptibility and severity in a Vietnamese population: a case-control study. Dermatology reports. 2026. PMID: 42734179
  8. Wen X, Du H, Hao X. Expression of the GZMB Gene Polymorphism, SNP rs8192917, in 990 Han Chinese Patients with Postoperative Keloids. Medical science monitor : international medical journal of experimental and clinical research. 2022. PMID: 35733327
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor.