ACNE INVERSA, FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: ACNE INVERSA, FAMILIAL
ACNINV1
HIDRADENITIS SUPPURATIVA, FAMILIAL
Number of Symptoms 17
OrphanetNr:
OMIM Id: 142690
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000987) Atypical scarring of skin 58 / 7739
2
(HPO:0100699) Scarring 9 / 7739
3
(MedDRA:10054107) Nodule 1 / 7739
4
(OMIM) Foreign body granulomas 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Necrotic tissue encapsulated by epithelial strands 1 / 7739
7
(OMIM) Apocrine glands are secondarily involved 1 / 7739
8
(OMIM) Occluding spongiform infundibulofolliculitis 1 / 7739
9
(OMIM) Fistula formation (late complication) 1 / 7739
10
(HPO:0040154) Acne inversa 3 / 7739
11
(MedDRA:10000269) Abscess 1 / 7739
12
(OMIM) Segmental rupture of the follicular epithelium 1 / 7739
13
(OMIM) Foreign material, such as corneocytes, bacteria, sebum products, and hair accumulated in the dermis 1 / 7739
14
(OMIM) Draining sinuses (late complication) 1 / 7739
15
(OMIM) Dermal contractures (late complication) 1 / 7739
16
(MedDRA:10061218) Inflammation 2 / 7739
17
(MedDRA:10021950) Inflammations 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acne inversa is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring. The prevalence of acne inversa has ...
Clinical Description OMIM Fitzsimmons et al. (1984) observed chronic hidradenitis suppurativa in a total of 21 members (16 females, 5 males) from 3 English families. In 1 kindred, the condition was associated with acne conglobata (cystic acne) and vertical transmission through ...
Molecular genetics OMIM Wang et al. (2010) identified 3 families segregating autosomal dominant acne inversa who had heterozygous loss-of-function mutations in the NCSTN gene. One family had a single-basepair deletion leading to a frameshift (605254.0001). Another had exon skipping (605254.0002), and ...