Information on CHBL1
Basic details
Name: Familial chilblain lupus | Acronym: CHBL1
Alt. names: childblain lupus
Gene: TREX1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2007
Last updated on: 2023-05-17 17:13:47 by
Description
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.
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Arthralgia |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chilblains |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Skin ulcer |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Antinuclear antibodies |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Childhood onset |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Autoamputation of digits |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 7 | elevated ESR |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Infantile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 9 | Cutaneous photosensitivity |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
| 10 | Raynaud phenomenon |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.