Acne inversa, familial, 2, with or without dowling-degos disease

Preferred Label : Acne inversa, familial, 2, with or without dowling-degos disease;

Symbol : ACNINV2;

CISMeF acronym : ACNINV2;

Type : Phenotype, molecular basis known;

Description : Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see 142690.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the presenilin enhancer, gamma-secretase subunit gene (PSENEN, 607632.0001);

Neoplasia : Squamous cell carcinoma (rarely develops in lesional areas);

Prefixed ID : #613736;

Details

Origin ID

613736;

UMLS CUI

C3151037;

DO Cross reference
- hidradenitis suppurativa [DO Concept]
Genes related to phenotype
- Presenilin enhancer, gamma-secretase subunit [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic furunculosis [HPO term]
- Follicular hyperkeratosis [HPO term]
- Perifolliculitis [HPO term]
- Recurrent cutaneous abscess formation [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- Hidradenitis suppurativa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hidradenitis suppurativa [ORDO Disease]
- hidradenitis suppurativa [DO Concept]

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