Chilblain Lupus: A Comprehensive Overview

Introduction

Chilblain lupus erythematosus (CHLE), often referred to as chilblain lupus, is a rare and distinct form of chronic cutaneous lupus erythematosus. It primarily manifests as painful, reddish to violet lesions on acral sites such as fingers, toes, ears, and sometimes the nose. These lesions are typically triggered or aggravated by exposure to cold and damp environments. The condition, while not as commonly encountered as other forms of lupus, holds clinical significance due to its chronicity, potential to affect quality of life, and its association with systemic lupus erythematosus (SLE) in some cases.

Epidemiology

Chilblain lupus is an uncommon disease, with its precise prevalence and incidence rates not well established due to underdiagnosis and misclassification. It is most frequently reported in temperate and cold climates, where environmental conditions favour the development of chilblain-like lesions. The condition tends to affect females more than males, with a female-to-male ratio estimated at approximately 3:1. The typical age of onset is in the third to fifth decades of life, although cases have been documented across a wide age range, including children and elderly individuals.

Geographically, higher rates are observed in Europe and North America, correlating with colder weather. However, cases have been reported worldwide, including in tropical regions, suggesting that factors other than climate also play a role. Familial forms of the disease, though rare, have been described, indicating possible genetic predispositions.

Etiology and Pathogenesis

Causes

The exact cause of chilblain lupus remains unclear, but it is believed to result from a combination of genetic, environmental, and immunological factors. Like other forms of lupus erythematosus, it is considered an autoimmune disorder, where the body’s immune system erroneously attacks its own tissues.

Risk Factors

• Genetic predisposition: Mutations in certain genes, such as TREX1, have been linked to familial cases of CHLE. These mutations can disrupt DNA repair mechanisms, leading to inappropriate immune activation.
• Environmental triggers: Prolonged exposure to cold and dampness is a well-known precipitating factor. Individuals in colder climates or those exposed to such conditions due to occupation or lifestyle are at higher risk.
• Autoimmunity: The presence of autoantibodies, particularly those associated with systemic lupus, suggests an underlying autoimmune process.
• Female gender: The higher prevalence in women suggests hormonal influences may contribute to disease risk.

Pathophysiology

The pathogenesis of chilblain lupus involves immune-mediated damage to small blood vessels in the skin, particularly in acral areas. Exposure to cold causes vasoconstriction, reducing blood flow and oxygen supply to extremities. In susceptible individuals, this triggers an exaggerated inflammatory response, leading to the characteristic skin lesions. The deposition of immune complexes, complement activation, and infiltration of lymphocytes contribute to tissue damage.

In familial CHLE, mutations in the TREX1 gene result in the accumulation of abnormal DNA, which stimulates type I interferon pathways, further promoting inflammation and tissue injury. These mechanisms overlap with those seen in other lupus subtypes and interferonopathies.

Clinical Presentation

Signs and Symptoms

Chilblain lupus typically presents as persistent, painful, and sometimes itchy erythematous to violaceous papules, plaques, or nodules on acral sites. The most commonly affected areas are the fingers, toes, heels, ears, and occasionally the nose. Lesions may be unilateral or bilateral and are often symmetrical. They may ulcerate, become crusted, or develop secondary infection if left untreated.

• Cutaneous manifestations: Papules, plaques, or nodules with a dusky red or bluish hue. Chronic lesions may exhibit atrophy, scarring, or dyspigmentation.
• Associated symptoms: Pain, burning, pruritus (itching), and increased sensitivity to cold.
• Systemic symptoms: Most patients have only cutaneous involvement, but a minority may develop systemic features such as arthralgia, fatigue, or signs suggestive of SLE.

Typical Patient Profile

A typical patient is a young to middle-aged woman presenting during the winter months with painful, persistent lesions on her fingers and toes. She may report a history of exacerbations with cold exposure and partial improvement in warmer weather. A family history of similar lesions or autoimmune disease may be elicited in some cases.

Diagnosis

Diagnostic Criteria

Diagnosis of chilblain lupus is based on clinical assessment, supported by laboratory findings and, when necessary, skin biopsy. The most widely cited diagnostic criteria include:

• Presence of persistent, acral, erythematous to violaceous lesions for more than three months, predominantly in cold weather.
• Histopathological evidence of interface dermatitis with lymphocytic infiltrate, mucin deposition, and perivascular inflammation.
• Exclusion of other causes of similar lesions, such as simple chilblains (perniosis), vasculitis, or other connective tissue diseases.

Laboratory Tests

• Autoantibody testing: Antinuclear antibodies (ANA), anti-dsDNA, anti-Ro/SSA, anti-La/SSB, and others may be positive, especially in patients with systemic features.
• Complement levels: Decreased complement (C3, C4) may be seen in active disease.
• Inflammatory markers: Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) may be mildly elevated.
• Genetic testing: In familial cases or early-onset disease, testing for TREX1 and related genes may be considered.

Imaging

Imaging is not routinely required but may be useful in atypical cases or when systemic involvement is suspected. Doppler ultrasound can assess blood flow in affected extremities, while nailfold capillaroscopy may reveal microvascular changes.

Differential Diagnosis

• Simple chilblains (perniosis): Transient, cold-induced lesions without autoimmune features.
• Vasculitis: Inflammatory conditions affecting blood vessels, often with systemic signs.
• Raynaud’s phenomenon: Episodic colour changes in fingers and toes due to vasospasm, usually lacking persistent lesions.
• Other forms of cutaneous lupus: Discoid lupus, subacute cutaneous lupus, etc.
• Infectious and neoplastic conditions: Less common, but should be considered in atypical presentations.

Treatment and Management

Medical Therapies

Management of chilblain lupus is aimed at controlling symptoms, preventing recurrences, and minimising complications. Treatment is individualised based on disease severity, extent of skin involvement, and presence of systemic features.

• General measures: Protection from cold, wearing warm clothing, and avoiding damp environments are crucial.
• Topical therapies: Potent topical corticosteroids are commonly used to reduce inflammation. Calcineurin inhibitors (e.g., tacrolimus ointment) may be considered as steroid-sparing agents.
• Systemic therapies: For refractory or extensive disease, oral antimalarials such as hydroxychloroquine are first-line agents. Other options include methotrexate, mycophenolate mofetil, azathioprine, and in severe cases, systemic corticosteroids. Immunosuppressive agents are reserved for those with systemic involvement or when other treatments fail.
• Vasodilators: Nifedipine and other calcium channel blockers may help by improving peripheral blood flow.
• Biologics: In rare, refractory cases, biologic agents targeting specific immune pathways are being explored.

Lifestyle Modifications

• Avoiding exposure to cold and moisture.
• Use of barrier creams and emollients to protect skin integrity.
• Smoking cessation, as smoking can worsen microvascular circulation.
• Regular monitoring and prompt treatment of secondary infections or ulcers.

Monitoring

Patients with chilblain lupus should be monitored regularly for disease activity, response to therapy, and potential progression to systemic lupus. Follow-up includes clinical examination, laboratory tests, and patient-reported outcomes. Education regarding early warning signs of systemic involvement is essential.

Prognosis

The prognosis of chilblain lupus is generally favourable with appropriate management. Most patients experience chronic or relapsing-remitting disease, with lesions recurring during cold seasons and improving in warmer months. Permanent scarring, atrophy, and pigmentary changes may occur in longstanding cases. Secondary infections are a potential complication, particularly in ulcerated lesions.

A minority of patients may develop systemic lupus erythematosus, particularly those with positive autoantibodies or family history of autoimmune disease. Close monitoring is warranted in such cases. Quality of life may be impacted due to pain, cosmetic concerns, and functional limitations, but with optimal care, most individuals lead productive lives.

Nursing Care of Patients with Chilblain Lupus

Nursing care for patients with chilblain lupus is multifaceted, requiring a holistic approach that encompasses assessment, symptom management, prevention of complications, patient education, and psychosocial support.

1. Comprehensive Assessment

Accurate assessment is the cornerstone of quality nursing care for CHLE. Nurses should perform a thorough health history and physical examination focused on skin integrity and systemic involvement.

• Health History: Inquire about the onset, duration, and progression of skin lesions; history of cold exposure; previous episodes; associated symptoms (pain, itching, ulceration); personal or family history of autoimmune diseases; and medication use.
• Physical Examination: Inspect affected areas for erythema, swelling, ulceration, and color changes. Assess for signs of infection and tissue breakdown. Evaluate peripheral circulation and check for other signs of systemic lupus (e.g., joint pain, fatigue, fever).
• Monitoring: Document lesion characteristics (size, appearance, location), and photograph for progression monitoring. Monitor for new symptoms and report any systemic manifestations immediately.

2. Symptom Management

Managing the physical discomfort associated with CHLE is a primary nursing goal.

Pain and Pruritus Relief:

• Administer prescribed analgesics or topical corticosteroids as indicated. Cool compresses can help relieve itching but should be used with caution to avoid further cold exposure.

Wound Care:

• Cleanse ulcerated or blistered lesions gently with non-irritating solutions.
• Apply prescribed topical medications (e.g., corticosteroids, calcineurin inhibitors).
• Cover open wounds with sterile, non-adherent dressings. Change dressings regularly and as needed to maintain cleanliness and promote healing.
• Monitor for signs of secondary infection (increased redness, swelling, warmth, exudate, or systemic fever) and notify the healthcare provider promptly if these develop.

Prevention of Tissue Damage:

• Encourage patients to avoid scratching the affected areas to prevent further injury and infection.
• Educate on the importance of proper nail care and gentle skin handling.

3. Prevention of Exacerbations and Complications

One of the most important aspects of nursing care in CHLE is helping patients avoid triggers and complications.

Protection from Cold Exposure:

• Educate patients on the need to keep extremities warm and dry, especially in cold or damp weather.
• Recommend wearing layered clothing, insulated gloves, socks, and waterproof footwear when outdoors.
• Advise against sudden temperature changes (e.g., transitioning quickly from cold to hot environments, which can worsen lesions).

Skin Care:

• Apply emollients or moisturizers regularly to prevent skin dryness and cracking.
• Use mild soaps and avoid harsh chemicals or irritating skincare products.

Avoidance of Other Triggers:

• Educate patients to avoid smoking and exposure to vasoconstrictive agents, as these can impair peripheral circulation.
• Advise against excessive alcohol intake, which may worsen circulation issues.

4. Patient Education and Empowerment

Ongoing education empowers patients with CHLE to manage their condition effectively and recognize early signs of complications.

• Condition Understanding: Explain the nature of chilblain lupus, its chronic or recurrent pattern, and the importance of compliance with treatment and preventive strategies.
• Medication Adherence: Instruct patients about prescribed medications, their purpose, potential side effects, and the importance of taking them as directed.
• Recognizing Complications: Teach patients to identify signs of infection or worsening disease, such as increased pain, swelling, fever, or development of new lesions, and when to seek medical help.
• Self-Care Routines: Encourage daily skin inspection, gentle cleansing, and prompt reporting of any changes. Provide written instructions and demonstrations when possible.
• Lifestyle Modifications: Discuss strategies to minimize cold exposure in daily activities and the importance of stress reduction, as stress can exacerbate autoimmune processes.

5. Psychosocial Support

Living with CHLE can have psychological and social impacts due to its visible symptoms, chronic nature, and potential for pain or discomfort.

• Emotional Support: Listen to patient concerns and validate their feelings. Explore the emotional impact of chronic skin disease, including anxiety or depression, and refer for counseling if needed.
• Support Groups: Provide information about local or online support groups for people with lupus or chronic skin conditions to help reduce isolation and promote coping.
• Family Education: Educate family members about the condition, how to provide support, and recognize signs of complications, fostering a supportive home environment.

6. Multidisciplinary Collaboration

Effective care for patients with CHLE often requires collaboration with various healthcare professionals.

• Dermatologists: For specialized assessment, diagnosis, and advanced therapies (e.g., immunosuppressive drugs, phototherapy).
• Rheumatologists: If there is evidence of systemic lupus involvement or autoimmune overlap.
• Wound Care Nurses: For advanced wound management and prevention of complications.
• Occupational Therapists: To assist with adaptive strategies for daily activities, especially if lesions impair hand function.
• Social Workers: For assistance with community resources, insurance, or workplace accommodations.

7. Monitoring and Follow-Up

Continuous evaluation is critical to ensuring optimal outcomes in patients with CHLE.

• Regular Assessments: Schedule routine follow-up visits to reassess skin lesions, monitor for systemic symptoms, and adjust care plans as needed.
• Laboratory Monitoring: Ensure that any necessary laboratory investigations (e.g., autoantibody panels, inflammatory markers) are performed as ordered to assess disease progression or systemic involvement.
• Documentation: Keep meticulous records of lesion progression, interventions, patient responses, and education provided.

8. Special Considerations

• Pediatric and Geriatric Care: Modify care approaches for children and older adults, who may have additional vulnerabilities (e.g., thinner skin, difficulty expressing pain, mobility issues).
• Comorbid Conditions: Be aware of coexisting problems such as Raynaud’s phenomenon, which can complicate management.
• Medication Side Effects: Monitor for adverse effects of immunosuppressants, antimalarials, or topical agents commonly prescribed for lupus.

REFERENCES

1. DermNet (NZ). Chilblain lupus erythematosus. https://dermnetnz.org/topics/chilblain-lupus-erythematosus. Last updated 8/2019.
2. Shimamura Y, Ogawa Y, Takizawa H. Chilblain Lupus Erythematosus. https://pubmed.ncbi.nlm.nih.gov/34796299/. JMA J. 2021;4(4):423-425.
3. Patel S, Hardo F. Chilblain lupus erythematosus. BMJ Case Rep. 2013 Nov 27;2013:bcr2013201165.
4. Vinister GV, Roongta R, Sinha D, Chattopadhyay A, Mondal S. Chilblain Lupus. https://pubmed.ncbi.nlm.nih.gov/37654633/. Mediterr J Rheumatol. 2023;34(2):269-270.
5. Wang WY, Lin MC. Chilblain Lupus Erythematosus. https://pubmed.ncbi.nlm.nih.gov/39047243/. N Engl J Med. 2024;391(4):e6.
6. Dubey S, Joshi N, Stevenson O, Gordon C, Reynolds JA. Chilblains in immune-mediated inflammatory diseases: a review. Rheumatology (Oxford). 2022 Nov 28;61(12):4631-4642.

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