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Psoriasis

Disease Details

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Health Insights (Sample Report)

This is sample data. Based on the provided genetic variants and associated parameters, your risk profile suggests a predisposition to the condition.

Variant ID	Allele Associated	Your Genotype	Risk Score
rs12193446	A	A/A	High
rs524952	A	T/A	High
rs7744813	A	A/A	High
rs17648524	C	G/C	High

Associated Proteins	Pathway
NP_001706.2 , NP_002113.2	REACT:R-HSA-2168880 , KEGG:hsa05143 , REACT:R-HSA-2173782

Clinical Trials

To interpret these results, it is advisable to consider consulting a healthcare professional specializing in genetic counseling or a medical geneticist.

Description: Psoriasis is a chronic autoimmune condition that causes rapid skin cell growth, leading to thick, red, scaly patches on the skin's surface.
Type: Psoriasis is a chronic autoimmune disease characterized primarily by skin involvement. The genetic transmission of psoriasis is complex and multifactorial, involving multiple genes and environmental triggers. It does not follow a simple Mendelian inheritance pattern. Instead, it is thought to involve a combination of genetic predisposition and external factors. Specific genes associated with psoriasis include those within the PSORS (Psoriasis Susceptibility) loci, particularly PSORS1 on chromosome 6p21, which is linked to the HLA-Cw6 allele.
Signs And Symptoms: Psoriasis is a chronic autoimmune skin condition characterized primarily by the following signs and symptoms:

1. **Red Patches**: These are often covered with thick, silvery scales. The patches can vary in size and can appear anywhere on the body, including the scalp, elbows, knees, and lower back.

2. **Dry, Cracked Skin**: The affected skin can become dry and may bleed.

3. **Itching and Burning**: The patches can be accompanied by itching, burning, or soreness.

4. **Thickened or Ridged Nails**: Psoriasis can affect the nails, causing them to thicken, pit, or develop ridges.

5. **Joint Pain**: Some people with psoriasis develop psoriatic arthritis, which causes joint pain, stiffness, and swelling.

6. **Plaques**: Raised, inflamed, and scaly lesions known as plaques are a hallmark of psoriasis.

These symptoms can vary in severity and may come and go in cycles, with periods of worsened symptoms (flares) and periods of remission.
Prognosis: Most people with psoriasis experience nothing more than mild skin lesions that can be treated effectively with topical therapies. Depending on the severity and location of outbreaks, people may experience significant physical discomfort and some disability, affecting the person's quality of life. Itching and pain can interfere with basic functions, such as self-care and sleep. Participation in sporting activities, certain occupations, and caring for family members can become difficult activities for those with plaques located on their hands and feet. Plaques on the scalp can be particularly embarrassing, as flaky plaque in the hair can be mistaken for dandruff.
Individuals with psoriasis may feel self-conscious about their appearance and have a poor self-image that stems from fear of public rejection and psychosexual concerns. Psoriasis has been associated with low self-esteem and depression is more common among those with the condition. People with psoriasis often feel prejudiced against due to the commonly held incorrect belief that psoriasis is contagious. Psychological distress can lead to significant depression and social isolation; a high rate of thoughts about suicide has been associated with psoriasis. Many tools exist to measure the quality of life of people with psoriasis and other dermatological disorders. Clinical research has indicated individuals often experience a diminished quality of life. Children with psoriasis may encounter bullying.Several conditions are associated with psoriasis including obesity, cardiovascular, and metabolic disturbances. These occur more frequently in older people. Nearly half of individuals with psoriasis over the age of 65 have at least three comorbidities (concurrent conditions), and two-thirds have at least two comorbidities.
Onset: Psoriasis can onset at any age, but it most commonly appears between the ages of 15 and 35. It is a chronic autoimmune condition characterized by the rapid build-up of skin cells, leading to scaling on the skin's surface. The affected areas often appear red and inflamed and might be painful or itchy. While its exact cause is not fully understood, a combination of genetic, immunological, and environmental factors are involved.
Prevalence: Psoriasis is a chronic skin condition that affects approximately 2-3% of the global population. It is characterized by red, itchy, and scaly patches, most commonly on the elbows, knees, trunk, and scalp.
Epidemiology: Psoriasis is estimated to affect 2–4% of the population of the western world. The rate of psoriasis varies according to age, region and ethnicity; a combination of environmental and genetic factors is thought to be responsible for these differences. Psoriasis is about five times more common in people of European descent than in people of Asian descent, more common in countries farther from the equator, relatively uncommon in African Americans, and extremely uncommon in Native Americans. Psoriasis has been estimated to affect about 6.7 million Americans.Psoriasis can occur at any age, although it is more frequent in adults and commonly appears for the first time between the ages of 15 and 25 years. Approximately one third of people with psoriasis report being diagnosed before age 20. Psoriasis affects both sexes equally.People with inflammatory bowel disease such as Crohn disease or ulcerative colitis are at an increased risk of developing psoriasis.
Intractability: Psoriasis is generally not considered intractable, but it is a chronic condition that can be challenging to manage. While there is no cure, various treatments can significantly control symptoms and improve quality of life. These treatments include topical therapies, phototherapy, systemic medications, and biologic drugs, which are tailored to individual needs and severity of the disease.
Disease Severity: Psoriasis severity is typically categorized into mild, moderate, and severe based on the extent of skin involvement, the physical symptoms, and the impact on a patient's quality of life. The Psoriasis Area and Severity Index (PASI) is commonly used to assess severity, with higher scores indicating more severe disease. Other tools include the Body Surface Area (BSA) percentage and the Dermatology Life Quality Index (DLQI).
Healthcare Professionals: Disease Ontology ID - DOID:8893
Pathophysiology: Psoriasis is characterized by an abnormally excessive and rapid growth of the epidermal layer of the skin. Abnormal production of skin cells (especially during wound repair) and an overabundance of skin cells result from the sequence of pathological events in psoriasis. The sequence of pathological events in psoriasis is thought to start with an initiation phase in which an event (skin trauma, infection, or drugs) leads to activation of the immune system and then the maintenance phase consisting of chronic progression of the disease. Skin cells are replaced every 3–5 days in psoriasis rather than the usual 28–30 days. These changes are believed to stem from the premature maturation of keratinocytes induced by an inflammatory cascade in the dermis involving dendritic cells, macrophages, and T cells (three subtypes of white blood cells). These immune cells move from the dermis to the epidermis and secrete inflammatory chemical signals (cytokines) such as interleukin-36γ, tumor necrosis factor-α, interleukin-1β, interleukin-6, and interleukin-22. These secreted inflammatory signals are believed to stimulate keratinocytes to proliferate. One hypothesis is that psoriasis involves a defect in regulatory T cells, and in the regulatory cytokine interleukin-10. The inflammatory cytokines found in psoriatic nails and joints (in the case of psoriatic arthritis) are similar to those of psoriatic skin lesions, suggesting a common inflammatory mechanism.Gene mutations of proteins involved in the skin's ability to function as a barrier have been identified as markers of susceptibility for the development of psoriasis.Deoxyribonucleic acid (DNA) released from dying cells acts as an inflammatory stimulus in psoriasis and stimulates the receptors on certain dendritic cells, which in turn produce the cytokine interferon-α. In response to these chemical messages from dendritic cells and T cells, keratinocytes also secrete cytokines such as interleukin-1, interleukin-6, and tumor necrosis factor-α, which signal downstream inflammatory cells to arrive and stimulate additional inflammation.Dendritic cells bridge the innate immune system and adaptive immune system. They are increased in psoriatic lesions and induce the proliferation of T cells and type 1 helper T cells (Th1). Targeted immunotherapy, as well as psoralen and ultraviolet A (PUVA) therapy, can reduce the number of dendritic cells and favors a T22 cell cytokine secretion pattern over a Th1/Th17 cell cytokine profile. Psoriatic T cells move from the dermis into the epidermis and secrete interferon-γ and interleukin-17. Interleukin-23 is known to induce the production of interleukin-17 and interleukin-22. Interleukin-22 works in combination with interleukin-17 to induce keratinocytes to secrete neutrophil-attracting cytokines.
Carrier Status: Psoriasis is not caused by a single gene and does not follow a simple pattern of inheritance, so there isn't a "carrier status" in the traditional genetic disorder sense. Instead, it is a complex condition involving multiple genetic and environmental factors. Various genes have been associated with increased susceptibility to psoriasis, but having these genes does not guarantee that a person will develop the condition.
Mechanism: Psoriasis is a chronic inflammatory skin disease characterized by the rapid growth of skin cells, leading to thick, red, scaly patches.

**Mechanism:**
The primary mechanism of psoriasis involves an overactive immune system. In particular, T cells, a type of white blood cell, become mistakenly activated and trigger an inflammatory response in the skin. This response leads to the overproduction of skin cells, which accumulate on the surface, forming the characteristic plaques.

**Molecular Mechanisms:**
1. **Genetic Factors:** Mutations in various genes, such as HLA-Cw6, have been associated with an increased risk of psoriasis. These genetic variants can affect the immune response and skin cell proliferation.

2. **Immune System Activation:**
- **T Cells:** Activated T cells migrate to the skin and release cytokines, which are signaling molecules that promote inflammation and stimulate keratinocyte proliferation.
- **Cytokines:** Key cytokines involved in psoriasis include TNF-alpha, IL-17, IL-22, and IL-23. These cytokines contribute to inflammation and the rapid turnover of skin cells.

3. **Signal Transduction Pathways:**
- **NF-κB Pathway:** This pathway is activated during inflammation and plays a crucial role in the production of inflammatory cytokines.
- **JAK-STAT Pathway:** This signaling pathway is involved in the immune response and the production of cytokines like IL-23.

4. **Keratinocyte Dysfunction:** Abnormal signaling in keratinocytes, the predominant cell type in the epidermis, leads to their rapid proliferation and turnover.

5. **Angiogenesis:** Increased formation of new blood vessels in the skin can also contribute to the disease, providing additional pathways for immune cells to enter the skin.

Understanding these molecular mechanisms is critical for developing targeted therapies for psoriasis, such as biologics that inhibit specific cytokines (e.g., TNF inhibitors, IL-17 inhibitors) and small molecules that affect these signaling pathways.
Treatment: Psoriasis is a chronic, autoimmune skin condition characterized by rapid skin cell turnover leading to thick, red, scaly patches. Treatment options vary and often depend on the severity of the condition:

1. **Topical Treatments**: These are applied directly to the skin and can include corticosteroids, vitamin D analogs, retinoids, salicylic acid, and coal tar.

2. **Phototherapy**: This involves exposing the skin to ultraviolet light under medical supervision. Treatments include UVB phototherapy, PUVA (psoralen and UVA), and laser treatments.

3. **Systemic Treatments**: These are for more severe cases and are taken orally or by injection. Options include biologics (e.g., TNF inhibitors, IL-12/23 inhibitors, IL-17 inhibitors), methotrexate, cyclosporine, and acitretin.

4. **Lifestyle and Home Remedies**: These can help manage symptoms and include moisturizing regularly, taking care of your skin, avoiding triggers such as stress and smoking, and maintaining a healthy diet.

5. **Combination Therapy**: Sometimes, a combination of the above treatments is used to improve efficacy and reduce side effects.

Close consultation with a healthcare provider is essential to tailor the treatment plan to the individual’s needs.
Compassionate Use Treatment: Compassionate use treatments and off-label or experimental treatments for psoriasis can include several options when standard therapies are insufficient or inappropriate.

1. **Compassionate Use Treatments:**
- **Biologics:** Medications like secukinumab, ixekizumab, brodalumab, and ustekinumab may be available through compassionate use programs.
- **JAK Inhibitors:** Drugs like tofacitinib may be considered for compassionate use in severe cases.

2. **Off-label Treatments:**
- **Methotrexate:** While commonly used, methotrexate can also be prescribed off-label for psoriasis unresponsive to biologics.
- **Mycophenolate Mofetil:** An immunosuppressant occasionally used for severe cases.
- **Hydroxyurea:** Previously more common for psoriasis, now less so but still an off-label option.

3. **Experimental Treatments:**
- **New Biologics:** Trials with novel biologic agents targeting various interleukins or T-cell activation pathways.
- **Small Molecule Inhibitors:** Research into PDE4 inhibitors like apremilast.
- **Topical/Oral Treatments:** New topical corticosteroids and non-corticosteroid agents.
- **Gene Therapy and Advanced Immunotherapy:** Experimental protocols in early research or clinical trial stages.

It is crucial to consult with specialized healthcare providers to discuss the risks and benefits of these treatments.
Lifestyle Recommendations: Lifestyle recommendations for managing psoriasis include:

1. **Healthy Diet**: Emphasize a balanced diet rich in fruits, vegetables, whole grains, and lean proteins. Consider an anti-inflammatory diet that limits red meat and processed foods.

2. **Maintain a Healthy Weight**: Obesity can worsen psoriasis symptoms, so maintaining a healthy weight may reduce flare-ups.

3. **Regular Exercise**: Engage in regular physical activity to help manage stress and improve overall health.

4. **Stress Management**: Practice stress-reduction techniques such as meditation, yoga, or deep-breathing exercises, as stress can trigger or exacerbate psoriasis.

5. **Limit Alcohol Consumption**: Alcohol can interfere with treatment and exacerbate symptoms, so it is best to limit intake.

6. **Avoid Smoking**: Smoking can increase the severity of psoriasis, so quitting is highly beneficial.

7. **Skin Care**: Keep your skin moisturized to prevent dryness and cracking. Use gentle, fragrance-free skincare products.

8. **Sun Exposure**: Moderate sun exposure can help reduce psoriasis symptoms, but avoid sunburn as it can worsen the condition.

9. **Hydrate**: Drink plenty of water to keep your skin hydrated from the inside.

10. **Follow Treatment Plans**: Adhere to treatments prescribed by your healthcare provider, including topicals, phototherapy, or systemic medications.

These lifestyle changes can help manage symptoms and improve quality of life for those with psoriasis.
Medication: Drug-induced psoriasis may occur with beta blockers, lithium, antimalarial medications, nonsteroidal anti-inflammatory drugs, terbinafine, calcium channel blockers, captopril, glyburide, granulocyte colony-stimulating factor, interleukins, interferons, lipid-lowering medications,: 197 and paradoxically TNF inhibitors such as infliximab or adalimumab. Withdrawal of corticosteroids (topical steroid cream) can aggravate psoriasis due to the rebound effect.
Repurposable Drugs: Several repurposable drugs for psoriasis include:

1. Methotrexate: Originally used for cancer and rheumatoid arthritis.
2. Cyclosporine: An immunosuppressant used in organ transplant patients.
3. Apremilast: Initially researched for other inflammatory conditions.
4. Tofacitinib: Used in the treatment of rheumatoid arthritis.
5. Acitretin: Originally developed for severe acne.

These drugs are used off-label for psoriasis due to their immunomodulatory and anti-inflammatory properties.
Metabolites: In psoriasis, several notable metabolites play roles in the disease's pathogenesis, representing potential biomarkers or therapeutic targets. These include:

1. **Arachidonic Acid Metabolites**: These metabolites are involved in inflammation and include prostaglandins and leukotrienes, which are known to be elevated in psoriatic lesions.

2. **Tryptophan Metabolites**: Kynurenine and other tryptophan catabolites are often dysregulated in psoriasis, influencing immune responses.

3. **Lipids**: Altered lipid metabolism has been observed in psoriasis, with changes in ceramides and free fatty acids contributing to skin barrier dysfunction and inflammation.

4. **Amino Acids**: Abnormal levels of amino acids like glutamine and arginine can be seen and are linked to the stress response and immune modulation.

These alterations in metabolic pathways highlight the complex biochemical underpinnings of psoriasis and may guide future research into novel treatments.
Nutraceuticals: Nutraceuticals, such as omega-3 fatty acids, vitamin D, and antioxidants like curcumin, have shown potential in managing psoriasis symptoms by reducing inflammation and supporting skin health. However, they should complement conventional treatments rather than replace them.

Nanotechnology (nanomedicine) in psoriasis explores using nanoparticles for targeted drug delivery, enhancing the efficacy and reducing side effects of treatments like topical corticosteroids and biologics. Nanoparticles can improve drug penetration and controlled release, offering promising advancements in psoriasis management.
Peptides: Psoriasis is a chronic autoimmune condition characterized by the rapid growth of skin cells, leading to thick, red, scaly patches. Peptides are short chains of amino acids that play various roles in the body, including skin repair and immune function. In psoriasis, specific peptides might be involved in the inflammatory process, making them a potential target for therapeutic intervention.

Nan refers to nanotechnology, which involves the manipulation of matter on an atomic or molecular scale. In the context of psoriasis, nanotechnology can be used to enhance drug delivery systems. For example, nanoparticles can deliver anti-inflammatory or immunomodulatory agents directly to affected skin areas, potentially improving the efficacy and reducing the side effects of treatments. Research is ongoing in this field to develop more targeted and effective therapies for psoriasis using nanotechnology.