In this article, we explore how thermography is revealing the genetic footprint in body temperature, from rare diseases to athletic performance. Discover how this non-invasive tool allows for the detection of invisible fractures, assessment of post-exercise fatigue, or anticipation of complications such as diabetic foot ulcers, opening a new field of research between genetics, health, and physiology.
Infrared thermography is a non-invasive imaging technique that allows the analysis of thermal distribution on the body’s surface. Its application in medicine has made it possible to identify thermal patterns associated with inflammatory, metabolic, and neurological processes. In a recent review by Kesztyüs et al. (2023), 72 studies were analyzed exploring the use of thermography in the diagnosis, detection, and monitoring of diseases, involving a total of 17,314 participants with 38 different conditions across 13 therapeutic areas. The most notable use cases include diabetes, breast cancer, systemic sclerosis, Raynaud's phenomenon, temporomandibular dysfunction, thyroid nodules, migraines, muscle injuries, and degenerative joint pathologies, among others.
In recent years, a promising line of research has emerged exploring the relationship between genetics and thermography. It has been observed that certain genetic variants may influence thermal regulation, metabolism, and the inflammatory response, generating variations in skin temperature that are detectable through thermography. These differences may be present both in specific genetic diseases and in individual predisposition to certain thermal responses after physical exercise.
In this article, we analyze how infrared thermography can provide insight into the genetic influence on thermal regulation, as well as its potential to identify biomarkers related to health and athletic performance..
Some genetically originated diseases present physiological alterations that may manifest as distinctive thermal patterns detectable through thermography. A paradigmatic example is X-linked hypohidrotic ectodermal dysplasia (XLHED), a disorder affecting the function of sweat glands, bone metabolism, or the autonomic nervous system, compromising the body’s thermal regulation. Thermography has proven useful in identifying these alterations and supporting clinical diagnosis.
Here are some examples that illustrate the use of thermography in genetic diseases:
XLHED is a genetic disorder that alters the development of sweat glands, hair, and teeth. Affected individuals have difficulties regulating their body temperature due to poor sweat gland functionality, making them more vulnerable to hyperthermia.
In a study by Kaercher et al. (2015), ocular thermography was used to analyze surface temperature in the eyes of patients with XLHED. A distinctive thermal pattern associated with dry eyes and lacrimal gland dysfunction was identified. Although thermography does not replace other diagnostic tests, it proved useful for the early identification of the disease, even before genetic confirmation. The sensitivity was moderate (≈86% in adults and 67% in children, lower than other techniques like meibography), but its non-invasive nature and ability to detect localized temperature variations make it a valuable complementary tool in early diagnosis of XLHED.
Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and a high propensity for fractures. Some fractures, especially vertebral ones, may go unnoticed in conventional X-rays. In this context, thermography has been proposed as a complementary technique to detect hidden fractures through observation of inflammatory heat on the skin.
In a recent study, Nassiri et al. (2023) applied thermography to children with OI and observed localized temperature increases over areas with microfractures, particularly in the spine. These findings suggest that thermography can be a quick, accessible, and non-invasive modality to support fracture diagnosis in OI patients, contributing to earlier clinical intervention.
Beyond rare genetic diseases, recent research has begun to explore how certain genetic variants influence the thermal response to exercise and may even be related to injury predisposition. For example, the MCT1 polymorphism has been linked to a higher incidence of muscle injuries in soccer players (Massidda et al., 2015).
In this sense, there is a vast field to explore how infrared thermography—with its ability to detect differences in heat dissipation, inflammation, and muscle recovery—may be related to individual genetics.
The ACTN3 gene encodes the α-actinin-3 protein, present in fast-twitch muscle fibers. The R577X mutation results in the absence of this protein in individuals with the XX genotype, which has been associated with lower explosive power and greater susceptibility to muscle damage (Pimenta et al., 2011).
Recent studies suggest this mutation could also influence heat generation and inflammatory response after exercise. In a study with soccer players, de Assis (2022) observed that athletes with the XX genotype had a greater increase in skin temperature post-exercise compared to RR and RX genotypes. These findings suggest that thermography may be useful for identifying individual thermal responses associated with genetic profiles, with applications in muscle fatigue prevention and training planning.
IGF-1 is a key factor in muscle regeneration, while C-reactive protein (CRP) is a sensitive marker of systemic inflammation. In a study with under-20 soccer players, Chaves et al. (2024) found that post-exercise increases in skin temperature correlated with elevated levels of IGF-1 and CRP. Although the study did not directly address genetic variability, it raises the possibility that certain biomarkers may express differently depending on genetic profiles, opening a line of research to link genetics, inflammation, and thermography.
The role of genetics in thermal response has also been explored in animal studies, which may be of interest for exploring new research lines in humans. Bartolomé et al. (2021) analyzed ocular temperature via infrared thermography in Spanish sport horses and found that:
These results indicate that certain thermal traits have a significant genetic component, supporting the potential for translating this approach to human studies..
One of the most developed fields in medical thermography is its use as a tool for early diagnosis and population screening. Its ability to detect subtle thermal alterations makes it a promising technique for identifying vascular, metabolic, or inflammatory abnormalities in early stages. Key applications include:
Infrared thermography has been proposed as a complementary technique for breast cancer screening, as tumors usually show increased vascularization and, therefore, local temperature elevation. Recent studies, such as Wang et al. (2023), have improved the diagnostic accuracy of this technique through artificial intelligence for interpreting thermal patterns. Unlike mammography, thermography does not depend on breast density nor does it expose patients to radiation, offering an advantage in certain populations. However, its application should be cautious: for years, improper use of thermography in this context led to many false positives, generating skepticism and necessitating protocol refinement. As Stanley et al. (2024) point out, specialized training and proper use are essential to avoid implementation errors.
In individuals with type 2 diabetes, where genetic predisposition is relevant, thermography has been used to detect early circulatory and neuropathic complications in the foot. For example, in this case study, we describe how thermography helped monitor a patient with foot amputations due to diabetes. Both this case and scientific evidence show that asymmetric increases in plantar temperature can indicate inflammation or perfusion alteration, which precede ulcer formation.
A recent systematic review by Faus Camarena et al. (2023) confirmed the efficacy of thermography in identifying pre-ulcerous states. Analysis of diabetic patients with and without ulcers revealed that plantar thermal variation is a strong predictor of imminent ulceration, especially in cases of diabetic peripheral neuropathy. Given its non-invasive nature, this tool could be integrated into podiatric screening protocols, helping reduce the high incidence of amputations in this population.
Thermography has also proven useful in screening for vascular and autoimmune diseases, such as Raynaud’s phenomenon, where it can visualize abnormal cooling and rewarming patterns of the extremities. A study conducted with soldiers showed that 28% of the population had problems related to temperature recovery in the extremities, sometimes linked to conditions such as Raynaud’s syndrome. In these cases, thermography can facilitate differential diagnosis and monitoring.
During the COVID-19 pandemic, its use in airports and hospitals for rapid fever detection became widespread, illustrating its large-scale applicability. However, this function has limitations, as skin temperature may not accurately reflect core temperature. Therefore, it should be used as an initial screening tool, complemented by clinical thermometers for fever confirmation.
Infrared thermography is becoming established as an increasingly valuable complementary tool in genetics, health, and clinical practice. Current research supports its usefulness in identifying characteristic thermal patterns of genetic diseases such as hypohidrotic ectodermal dysplasia (XLHED) or osteogenesis imperfecta, enabling faster diagnosis in early stages.
Beyond its diagnostic role, thermography offers notable advantages in non-invasive monitoring of chronic diseases (arthritis, wound healing, inflammatory processes) and in the follow-up of clinical or rehabilitative interventions. Its harmless, repeatable, and relatively low-cost nature makes it suitable for continuous use in clinical and sports environments (Kesztyüs et al., 2023; Faus Camarena et al., 2023).
In sports, the relationship between genetics and thermography opens new lines of research and practical application. Some of the most promising include:
Despite this potential, the use of thermography in sports genetics is still in an exploratory phase. More scientific evidence and standardized protocols are needed before widespread adoption..
Infrared thermography has become a promising tool to analyze the influence of genetics on thermal regulation, inflammatory processes, and muscle recovery. Its ability to detect thermal alterations non-invasively makes it a useful resource in both clinical and sports fields.
From its application in genetic diseases such as hypohidrotic ectodermal dysplasia or osteogenesis imperfecta to its potential in studying performance-related polymorphisms, thermography opens new possibilities at the intersection of genetics, physiology, and health. It has also proven effective in early screening of conditions such as breast cancer or diabetic foot, supporting prevention and early detection strategies.
As research advances and new technologies like artificial intelligence are integrated, thermography is expected to play a more relevant role in personalized training, clinical follow-up, and precision medicine, enabling interventions more closely aligned with each patient’s or athlete’s individual biology.
ThermoHuman has had the support of the Funds of the European Union and the Community of Madrid through the Operational Programme on Youth Employment. Likewise, ThermoHuman within the framework of the Export Initiation Program of ICEX NEXT, had the support of ICEX and the co-financing of the European Regional Development Fund (ERDF).
Thermohuman has received funding from the Centre for the Development of Industrial Technology (CDTI), in participation with the European Regional Development Fund (ERDF), for the R+D activities involved in creating a new tool, based on thermography, for the prediction and prevention of rheumatoid arthritis. See project detail.
