Acne Inversa, Familial, 1; Acninv1

Description

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 (summary by Jansen et al., 2001).Jansen et al. (2001) provided a detailed history and review of the disorder. Genetic Heterogeneity of Familial Acne InversaFamilial acne inversa-2 with or without Dowling-Degos disease (ACNINV2 ) is caused by mutation in the PSENEN gene (OMIM ) on chromosome 19q13, and familial acne inversa-3 (ACNINV3 ) is caused by mutation in the PSEN1 gene (OMIM ) on chromosome 14q24.

Clinical Features

Phenotypes and symptoms related to Acne Inversa, Familial, 1; Acninv1

  • Scarring
  • Pruritus
  • Inflammatory abnormality of the skin
  • Acne
  • Atypical scarring of skin
  • Acne inversa

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Acne Inversa, Familial, 1; Acninv1 Is also known as hidradenitis suppurativa, familial, acne inversa, familial.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Acne Inversa, Familial, 1; Acninv1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NCSTN.

By Institute for Human Genetics University Clinic Freiburg (Germany).

NCSTN
Specificity
100 %
Genes
100 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, NLRP3, NCSTN, NLRP12, NLRP7, PSENEN, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1
Specificity
6 %
Genes
100 %
NCSTN.

By Fulgent Genetics Fulgent Genetics (United States).

NCSTN
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY ZIMMERMANN-LABAND SYNDROME 1; ZLS1 DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD 45,X/46,XY MIXED GONADAL DYSGENESIS IMMUNODEFICIENCY 49; IMD49