Information on ACNINV3
Basic details
Name: Acne inversa, familial, 3 | Acronym: ACNINV3
Alt. names: Hidradenitis suppurative with cutaneous hyperpigmentation
Gene: PSEN1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.
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 |
|---|
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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.