Acne Inversa, Familial, 2, With Or Without Dowling-degos Disease; Acninv2

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). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Clinical Features

Top most frequent phenotypes and symptoms related to Acne Inversa, Familial, 2, With Or Without Dowling-degos Disease; Acninv2

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring
  • Papule
  • Epidermal acanthosis
  • Acne
  • Squamous cell carcinoma
  • Atrophic scars

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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.


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Acne Inversa, Familial, 2, With Or Without Dowling-degos Disease; Acninv2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PSENEN.

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

PSENEN
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 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center (Netherlands).

SNCA, SNCB, SOD1, SORL1, SQSTM1, TARDBP, TYROBP, UBAP1, UBQLN2, VAPB, VCP, FIG4, OPTN, TREM2, VPS54, IFT74, CSF1R, CHMP2B, PSENEN, ARHGEF28 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
PSENEN.

By Fulgent Genetics Fulgent Genetics (United States).

PSENEN
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 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics (Finland).

TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %

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Sources and references

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OMIM Rare Disease Search Engine

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