chilblain lupus 1

Chilblain lupus 1 is a form of lupus that primarily affects the skin, producing painful, inflammatory lesions especially in response to cold exposure. It is caused by mutations in the TREX1 gene and follows an autosomal dominant inheritance pattern. Affected individuals typically display persistent chilblains along with joint pain and skin ulcers, and laboratory tests are consistently positive for antinuclear antibodies. Although precise prevalence estimates are not available, the condition is recognized through its characteristic clinical findings.

The clinical presentation of chilblain lupus 1 is marked by several characteristic features. Virtually all affected individuals show antinuclear antibody positivity, chilblains, arthralgia, and skin ulcers, which are central to the diagnosis. Some individuals may also experience more variable symptoms, including autoamputation of digits in a significant subset, elevated erythrocyte sedimentation rate in a moderate proportion, and less commonly, abnormal nail morphology. Not all individuals experience all features, and severity varies considerably.

Chilblain lupus 1 is linked to mutations in the TREX1 gene, which plays a crucial role in the repair and clearance of DNA within cells. Disruption of this gene is thought to trigger an abnormal immune response, leading to the skin and joint symptoms observed in this condition. The inheritance pattern is autosomal dominant, meaning that having one altered copy of TREX1 is sufficient for the condition to manifest. Even within families, the severity and specific symptoms can vary considerably, and genetic counseling is recommended to discuss familial implications and recurrence risks.

Currently, management of chilblain lupus 1 focuses on supportive care and symptom management. Because there are no foundational therapies or approved treatments specifically linked to this condition, a multidisciplinary approach is essential. This may involve pain management, careful wound care for skin ulcers, and strategies to reduce inflammation, all tailored to the individual's needs. Genetic counseling is also recommended, and patients should discuss treatment options with their healthcare team to determine the most appropriate interventions for their situation.

The long‐term outlook for individuals with chilblain lupus 1 is variable and depends on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to manage their symptoms well into adulthood, though some may experience complications such as progressive damage leading to autoamputation of digits. Outcomes described in medical literature continue to evolve as standards of care improve, and individual experiences with this condition differ significantly. Families often find it helpful to connect with genetic counseling services and specialist care to guide long-term management and support.