Familial Chilblain lupus
A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers toes nose cheeks and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Familial Chilblain lupus?
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Advocacy Organizations
Autoimmune Registry Inc.
Autoimmune Registry, Inc., ARI, is a 501(c)(3) non-profit umbrella organization that provides a hub for research, statistics, and patient data on all autoimmune diseases. Since 2016 we have operated a database for patients who suffer from any autoimmune disease. Our mission is to reduce the time of diagnosis, support research, compute prevalence statistics, and establish autoimmune disease as a major class of disease so that it receives the awareness of the public, the attention of healthcare providers, and the appropriate funding needed to improve upon existing treatment protocols and disease management strategies.
Autoinflammatory Alliance
https://autoinflammatory.org
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
The Fairy Goddess Mother Project Inc.
The Fairy Goddess Mother Project is a 501(c)(3) Non-profit Rare Disease Patient Advocacy Organization dedicated to increasing awareness of the little-known, often misdiagnosed disease Vulvar Lichen Sclerosus (VLS), providing financial assistance to afflicted women in need of treatment, and supporting patients’ efforts to participate in clinical trials.
The Fairy Goddess Mother Project Inc.
The Fairy Goddess Mother Project is a 501(c)(3) Non-profit Rare Disease Patient Advocacy Organization dedicated to increasing awareness of the little-known, often misdiagnosed disease Vulvar Lichen Sclerosus (VLS), providing financial assistance to afflicted women in need of treatment, and supporting patients’ efforts to participate in clinical trials.
the fairy goddess mother project inc
The Fairy Goddess Mother Project is dedicated to increasing awareness of Vulvar Lichen Sclerosus (VLS), providing financial assistance to women needing treatment, and supporting patient’s efforts to participate in clinical trials.
the fairy goddess mother project inc
The Fairy Goddess Mother Project is dedicated to increasing awareness of Vulvar Lichen Sclerosus (VLS), providing financial assistance to women needing treatment, and supporting patient’s efforts to participate in clinical trials.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.