Information on MSPC
Basic details
Name: Palmoplantar carcinoma, multiple self-healing | Acronym: MSPC
Alt. names: NLRP1 GOF
Gene: NLRP1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2013
Last updated on: 2023-02-28 16:41:18 by
Description
Palmoplantar carcinoma involves recurrent palmoplantar, conjunctival, and corneal keratoacanthomas, and individuals have been described as having high susceptibility to malignant squamous cell carcinoma; Features of Autoinflammation with arthritis and dyskeratosis have been described as including anemia severe enough to necessitate splenectomy, and awareness may allow prompt diagnosis and management; Individuals were not reported to benefit from Vitamin A supplementation. Refs. PMIDs: 23349227; 27662089; 27965258
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 | Childhood onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chronic rhinitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Corneal neovascularization |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Finger joint hypermobility |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Long philtrum |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Nail dystrophy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Palmoplantar keratoderma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Short neck |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Visual impairment |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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.