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Dermatogenetics

Atopic dermatitis

Atopic dermatitis, often called eczema, is a common condition, particularly in children, leading to dry, red, and intensely itchy skin. It is influenced by a combination of genetic and environmental factors, affecting daily life for many.

Polygenic / Complex Dermatogenetics OMIM:603165
~15-20% children
Prevalence
Population estimate
Many
Genetic architecture
Polygenic - many common-variant loci

Overview

Atopic dermatitis is a long-term skin condition that causes patches of skin to become dry, itchy, red, and sometimes cracked [PMID:32576974]. It is a form of eczema, and the term 'atopic' refers to a tendency for the immune system to overreact to certain allergens. This condition typically begins in childhood, often before the age of five, but can persist into adulthood or even appear for the first time later in life. Flares, or periods when symptoms worsen, can be triggered by various factors, including irritants, allergens, stress, and infections.

While anyone can develop atopic dermatitis, there is often a family history of the condition or other atopic diseases like asthma or hay fever. It is one of the most common chronic skin conditions in the UK, especially in children, and can significantly impact quality of life due to persistent itching and visible skin changes.

Symptoms & clinical features

The main symptom of atopic dermatitis is intense itching, which often worsens at night and can disrupt sleep. This itching can lead to scratching, further irritating the skin and sometimes causing it to thicken (called lichenification) or become infected. Affected skin patches are typically dry, red, inflamed, and may appear scaly or cracked [PMID:29953835]. In infants, atopic dermatitis often appears on the scalp and face, particularly the cheeks.

As children grow, the rash commonly affects the creases of the elbows and knees, wrists, ankles, and neck. In adults, symptoms can be more widespread or concentrated on specific areas like the hands, feet, eyelids, or around the mouth. The severity of symptoms can vary widely, from mild, occasional dryness and itching to pervasive, severe, and persistent inflammation across large areas of the body.

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Affected organs

Atopic dermatitis primarily affects the skin, as it is a skin barrier dysfunction and immune system disorder. The skin barrier becomes compromised, making it more susceptible to irritants and allergens. While the direct effects are seen on the skin, the condition can also have wider impacts. For instance, severe itching and discomfort can lead to sleep disturbances, which may affect overall well-being and daily functioning.

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

Risks & severity

The prevalence of atopic dermatitis is significant, affecting approximately 15-20% of children in the UK. Many children experience improvement or outgrow the condition by adolescence, but it can persist into adulthood for about 20-30% of those affected. The severity of atopic dermatitis varies greatly; some individuals have mild symptoms that are easily managed, while others experience severe, widespread, and debilitating flares. The condition can significantly impact quality of life, affecting sleep, school or work performance, and social interactions.

Individuals with atopic dermatitis are at a higher risk of developing other atopic conditions, such as asthma and allergic rhinitis (hay fever) - a phenomenon often referred to as the 'atopic march'. They may also be more prone to skin infections due to the impaired skin barrier. While atopic dermatitis is not life-threatening, severe cases can lead to secondary infections and profound discomfort.

Genetic causes

Atopic dermatitis is considered a complex or polygenic condition, meaning it is influenced by multiple genes acting together with environmental factors. Several genes have been identified that contribute to an individual's susceptibility. For example, variants in the FLG gene (encoding filaggrin) are strongly associated with atopic dermatitis. Filaggrin is a protein essential for maintaining the skin's barrier function, and changes in FLG can lead to a weakened skin barrier, allowing moisture loss and entry of irritants [PMID:29953835].

Other genes involved play roles in the immune system's regulation. These include IL13, IL4R, and TSLP. The proteins produced by these genes are involved in inflammatory responses and allergic reactions. Variations in these genes can lead to an overactive immune response to otherwise harmless environmental triggers, contributing to the inflammation seen in atopic dermatitis. It is the combination of these genetic predispositions and environmental exposures that typically leads to the development of the condition.

Inheritance pattern

Atopic dermatitis shows a complex or polygenic inheritance pattern. This means that having a genetic predisposition does not guarantee someone will develop the condition, as multiple genes, along with environmental factors, contribute to its development. If one parent has atopic dermatitis, there is an increased chance their children may also develop it. The risk increases further if both parents are affected or if there is a strong family history of other atopic conditions like asthma or hay fever.

Unlike conditions caused by a single gene, there isn't a simple dominant or recessive pattern. Instead, different genetic changes in various genes can contribute to susceptibility, and these changes are passed down through families. However, environmental factors like exposure to allergens, irritants, or even certain microbes play a crucial role in whether and how severely the condition manifests.

Diagnosis & testing

Diagnosing atopic dermatitis typically involves a clinical assessment by a GP or dermatologist. This includes a thorough review of symptoms, medical history, and a physical examination of the skin. There are no specific blood tests or imaging studies that can definitively diagnose atopic dermatitis; rather, the diagnosis is based on characteristic signs and symptoms. Recognised diagnostic criteria, such as the UK Working Party criteria, are often used to guide diagnosis.

If the diagnosis is uncertain or if symptoms are severe, a referral to a dermatologist may be made. For cases where underlying genetic factors are being investigated in an NHS Genomic Medicine Service context, especially with a strong family history or unusual presentation, a referral to Clinical Genetics could potentially be considered under an appropriate investigation, such as those related to R-codes for severe skin disorders, though R-codes directly specific to polygenic atopic dermatitis in isolation are not typically used. Genetic testing is not routinely performed for the general diagnosis of atopic dermatitis but may be used in research or complex cases to understand specific genetic contributions.

Management & lifestyle

Management of atopic dermatitis focuses on controlling symptoms, preventing flares, and improving skin barrier function. This typically involves a multi-pronged approach tailored to the individual. Key strategies include regular use of emollients (moisturisers) to keep the skin hydrated and support the skin barrier, and topical corticosteroids during flares to reduce inflammation and itching. For more severe cases, other treatments like topical calcineurin inhibitors, phototherapy, or systemic medications (including immunosuppressants or newer biologic drugs) may be considered.

Identifying and avoiding triggers, such as certain soaps, detergents, allergens, or environmental irritants, is an important part of management. Patients are often advised on appropriate skincare routines, including mild cleansers and lukewarm baths. Lifestyle adjustments, such as managing stress and avoiding scratching, are also beneficial. Regular follow-up with a healthcare professional, often a GP or dermatologist, is essential to adjust treatments and ensure effective symptom control within the NHS care pathway.

UK care pathway

In the UK, individuals with suspected atopic dermatitis would typically first consult their General Practitioner (GP). The GP can often diagnose and initiate treatment for milder cases. If symptoms are severe, persistent, or prove difficult to manage, the GP may refer the individual to a dermatologist, a specialist in skin conditions, within the NHS. Genetic counsellors can provide support and information regarding the genetic aspects of conditions, including those with complex inheritance patterns, and are often accessed through a referral from a specialist clinic, such as a Clinical Genetics service. While specific NHS R-codes for genetic testing are not typically applied for routine atopic dermatitis diagnosis due to its polygenic nature, genetic investigations are sometimes undertaken as part of broader research programmes or in very unusual presentations affecting specific rare disease R-code groups.

Frequently asked questions

Is atopic dermatitis contagious?

No, atopic dermatitis is not contagious. It is a skin condition caused by a combination of genetic and environmental factors, and you cannot catch it from another person.

Can diet affect my atopic dermatitis?

For some individuals, certain foods might trigger or worsen symptoms, especially in young children with food allergies. However, dietary triggers vary widely, and any significant dietary changes should be discussed with a doctor or dietitian.

Will my child outgrow atopic dermatitis?

Many children with atopic dermatitis experience significant improvement or complete remission as they get older. However, some continue to have symptoms into adulthood, and the condition can occasionally re-emerge later in life. This varies greatly between individuals.

What is the 'atopic march'?

The 'atopic march' describes the typical progression of allergic diseases that often begin in early childhood. It usually starts with atopic dermatitis, followed by the development of food allergies, allergic rhinitis (hay fever), and then asthma.

How can I prevent flares of atopic dermatitis?

Preventing flares often involves regular use of emollients, avoiding known triggers (like harsh soaps, certain fabrics, or allergens), and managing stress. Following your prescribed treatment plan from your GP or dermatologist is also crucial for preventing symptom worsening.

References

  1. Chovatiya R. Atopic Dermatitis (Eczema). JAMA. 2023. PMID: 36648466
  2. Boothby IC, Gonzalez JR, Scharschmidt TC. Atlas of atopic dermatitis. The Journal of allergy and clinical immunology. 2020. PMID: 32344054
  3. Kumar R, Seibold MA, Burchard EG. Atopic dermatitis, race, and genetics. The Journal of allergy and clinical immunology. 2020. PMID: 31738993
  4. Kusari A, Han AM, Schairer D. Atopic Dermatitis: New Developments. Dermatologic clinics. 2019. PMID: 30466683
  5. Drucker AM. Treatment of Atopic Dermatitis. JAMA. 2025. PMID: 40833742
  6. Takahashi Y, Hagino T, Saeki H. Efficacy and safety of nemolizumab in paediatric atopic dermatitis: A 24-week real-world case series. Journal of the European Academy of Dermatology and Venereology : JEADV. 2026. PMID: 41273031
  7. Lobefaro F, Gualdi G, Di Nuzzo S. Atopic Dermatitis: Clinical Aspects and Unmet Needs. Biomedicines. 2022. PMID: 36428493
  8. Antonelli F, Boeti L, Peris K. Head and neck atopic dermatitis: are Janus kinase inhibitors a game changer? Expert opinion on pharmacotherapy. 2025. PMID: 41390943
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.