MCID: HDR002
MIFTS: 49

Hidradenitis Suppurativa malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Hidradenitis Suppurativa

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 Hidradenitis suppurativa (hs) is a chronic skin disease characterized by recurrent, painful, boil-like lumps (nodules) under the skin. hs affects the areas around skin folds (e.g., armpits, groin, and breasts) and where apocrine glands (a form of sweat gland) and hair follicles are found. it is not contagious, but it is recurrent. it typically manifests as a single boil-like, pus-filled abscess or hard sebaceous lumps (lumps composed of sebum, or oil, which is excreted by the sebacous glands associated with hair follicles) and may progress to painful, deep-seated, inflamed clusters of lesions with chronic seepage involving significant scarring. the specific cause of hs is unknown, although it probably results from a combination of genetic and environmental factors.  last updated: 6/7/2011

MalaCards: Hidradenitis Suppurativa, also known as acne inversa, is related to keratosis and hidradenitis. An important gene associated with Hidradenitis Suppurativa is NCSTN (nicastrin), and among its related pathways are Notch signaling pathway and Development NOTCH1 mediated pathway for NF KB activity modulation. The compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lymph node, and related mouse phenotype mortality/aging.

Genetics Home Reference:22 Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin.

MedlinePlus:35 Hidradenitis suppurativa (hs) is a chronic disease of a type of sweat gland. it can occur in one or multiple areas of your body. hs usually develops in your armpits, groin, and anal area. it causes long-term skin inflammation and can be painful. symptoms include blackheads and red, tender bumps, called abscesses. the abscesses get bigger, break open, and leak pus tunnels that form under the skin between abscesses scarring no one knows what causes hs. it is more common in women, african americans, and people who have had acne. it usually starts after the teenage years. treatments include antibiotics, anti-inflammatory medicines, and sometimes surgery. losing weight and wearing loose clothing can help, too.

Wikipedia:66 Hidradenitis suppurativa (HS) is a skin disease characterized by clusters of chronic abscesses,... more...

Description from OMIM:48 142690,613737,613736

Aliases & Classifications for Hidradenitis Suppurativa

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 35MedlinePlus, 63UMLS, 36MeSH, 59SNOMED-CT, 48OMIM, 26ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


Aliases & Descriptions:

hidradenitis suppurativa 9 44 22 11 35 63
acne inversa 44 22
hidradenitides, suppurative 22
suppurative hidradenitides 22
hidradenitis, suppurative 22
suppurative hidradenitis 22
acne inversa, familial 9


External Ids:

Disease Ontology9 DOID:2280
MeSH36 D017497
ICD1026 L73.2

Related Diseases for Hidradenitis Suppurativa

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of the top 20 diseases related to Hidradenitis Suppurativa:



Diseases related to hidradenitis suppurativa

Symptoms for Hidradenitis Suppurativa

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

142690,613737,613736

Drugs & Therapeutics for Hidradenitis Suppurativa

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hidradenitis Suppurativa

Drug clinical trials:

Search ClinicalTrials for Hidradenitis Suppurativa

Search NIH Clinical Center for Hidradenitis Suppurativa

Search CenterWatch for Hidradenitis Suppurativa

Genetic Tests for Hidradenitis Suppurativa

About this section

Anatomical Context for Hidradenitis Suppurativa

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Hidradenitis Suppurativa:

34
Skin, Breast, Lymph node, Myeloid, Pituitary

Animal Models for Hidradenitis Suppurativa or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Hidradenitis Suppurativa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7KRT1, KRT10, NCSTN, PSENEN, DSG2

Publications for Hidradenitis Suppurativa

About this section
Sources:
53PubMed
See all sources

Articles related to Hidradenitis Suppurativa:

(show top 50)    (show all 495)
idTitleAuthorsYear
1
Successful treatment of severe hidradenitis suppurativa with anakinra. (23966107)
2013
2
Phenotypic heterogeneity in hidradenitis suppurativa (acne inversa): classification is an essential step toward personalized therapy. (23673498)
2013
3
Hidradenitis suppurativa and multiple dermatofibromas in a patient with ulcerative colitis. (24330184)
2013
4
Absence of pathogenic I^-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa). (23013355)
2013
5
Treatment of moderate to severe hidradenitis suppurativa. (23817709)
2013
6
Islanded perforator flaps in the reconstruction of hidradenitis suppurativa defects. (23303517)
2013
7
Predicting response to anti-TNF-alpha treatment in Hidradenitis suppurativa. (23362964)
2013
8
Clinical practice. Hidradenitis suppurativa. (22236226)
2012
9
Interstitial keratitis secondary to severe hidradenitis suppurativa responding to adalimumab. (22146546)
2012
10
Alterations in leucocyte subsets and histomorphology in normal-appearing perilesional skin and early and chronic hidradenitis suppurativa lesions. (21929531)
2012
11
Radical surgical excision and use of lateral thoracic flap for intractable axillary hidradenitis suppurativa. (23233895)
2012
12
Bacteriology of hidradenitis suppurativa exacerbations and deep tissue cultures obtained during carbon dioxide laser treatment. (22098253)
2012
13
Surgical treatment of chronic hidradenitis suppurativa in the gluteal and perianal regions. (23373365)
2012
14
Extended latissimus dorsi rotational V-Y advancement flap for the reconstruction of axillary defects after excision of hidradenitis suppurativa. (22374031)
2012
15
The thoracodorsal artery perforator flap in the treatment of axillary hidradenitis suppurativa: effect on preservation of arm abduction. (21921770)
2011
16
The perils of a defective medical communication: fatal neglected squamous cell carcinoma arising in perineal hidradenitis suppurativa. (21897818)
2011
17
Management of regional hidradenitis suppurativa with vacuum-assisted closure and split thickness skin grafts. (21587057)
2011
18
Superior and inferior gluteal artery perforator flaps in reconstruction of gluteal and perianal/perineal hidradenitis suppurativa lesions. (21976179)
2011
19
Dermacase. Can you identify this condition? Hidradenitis suppurativa. (21918148)
2011
20
Interstitial keratitis secondary to severe hidradenitis suppurativa: a case report and literature review. (20628295)
2010
21
Hyperbaric oxygen therapy for the management of postsurgical wounds in hidradenitis suppurativa. (21352679)
2010
22
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region. (20698881)
2010
23
Effective long-term control of refractory hidradenitis suppurativa with adalimumab after failure of conventional therapy. (21091684)
2010
24
Hidradenitis suppurativa. (20883920)
2010
25
Biologic drugs for the treatment of hidradenitis suppurativa: an evidence-based review. (20510761)
2010
26
Deroofing: a tissue-saving surgical technique for the treatment of mild to moderate hidradenitis suppurativa lesions. (20708472)
2010
27
Lymph nodes in hidradenitis suppurativa. (19365106)
2009
28
Etanercept for the treatment of hidradenitis suppurativa. (19197548)
2009
29
Hidradenitis suppurativa: importance of early treatment; efficient treatment with electrosurgery. (18093196)
2008
30
Quality of life impairment in hidradenitis suppurativa: a study of 61 cases. (17097366)
2007
31
Real-time compound imaging ultrasound of hidradenitis suppurativa. (17958586)
2007
32
A hidradenitis suppurativa related SAPHO case associated with features resembling spondylarthropathy and proteinuria. (16680392)
2007
33
The cutting edge. Severe hidradenitis suppurativa treated with adalimumab. (16982997)
2006
34
Surgical treatment of hidradenitis suppurativa: case series and review of the literature. (16984573)
2006
35
Clindamycin and rifampicin combination therapy for hidradenitis suppurativa. (16634904)
2006
36
Etanercept: effective in the management of hidradenitis suppurativa. (16536817)
2006
37
Treatment of long-standing extensive perianal hidradenitis suppurativa using double rotation plasty, V-Y plasty and free grafts. (12838364)
2004
38
Hidradenitis suppurativa. (12457209)
2003
39
Suggestions for uniform outcome variables when reporting treatment effects in hidradenitis suppurativa. (12890229)
2003
40
Vulvar hidradenitis suppurativa. Immunohistochemical evaluation of apocrine and eccrine involvement. (12380447)
2002
41
Split-thickness skin grafts and negative-pressure dressings in the treatment of axillary hidradenitis suppurativa. (12479426)
2002
42
Hidradenitis suppurativa. (11193069)
2000
43
The natural history of hidradenitis suppurativa. (11305381)
2000
44
Cigarette smoking as a triggering factor of hidradenitis suppurativa. (10393449)
1999
45
Pyoderma gangrenosum associated with cystic acne and hidradenitis suppurativa controlled by adding minocycline and sulfasalazine to the treatment regimen. (8726710)
1996
46
Cyclosporin-responsive hidradenitis suppurativa. (7636825)
1995
47
Androgen metabolism by isolated human axillary apocrine glands in hidradenitis suppurativa. (1954117)
1991
48
Surgical management of severe mammary hidradenitis suppurativa. (3341719)
1988
49
Hidradenitis suppurativa of the anogenital region: response to isotretinoin. (3422131)
1988
50
Fox-Fordyce disease with hidradenitis suppurativa. (13563958)
1958

Variations for Hidradenitis Suppurativa

About this section

Expression for genes affiliated with Hidradenitis Suppurativa

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hidradenitis Suppurativa

Search GEO for disease gene expression data for Hidradenitis Suppurativa.

Pathways for genes affiliated with Hidradenitis Suppurativa

About this section
Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN, 61Thomson Reuters, 5Cell Signaling Technology, 55R&D Systems
See all sources

Pathways related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Delta-Notch Signaling Pathway39
Notch Signaling Pathway39
9.6NCSTN, PSENEN
2
Show member pathways
Development Notch Signaling Pathway61
Transcription Sin3 and NuRD in transcription regulation61
9.6NCSTN, PSENEN
3
Show member pathways
9.6PSENEN, NCSTN
4
Show member pathways
9.6PSENEN, NCSTN
5
Show member pathways
Alzheimers Disease39
9.6PSENEN, NCSTN
69.6NCSTN, PSENEN
79.6PSENEN, NCSTN
89.6NCSTN, PSENEN
9
Show member pathways
9.6NCSTN, PSENEN
10
Show member pathways
9.6NCSTN, PSENEN
11
Show member pathways
9.6PSENEN, NCSTN
129.6NCSTN, PSENEN
13
Show member pathways
Notch signaling pathway39
9.6NCSTN, PSENEN
149.6PSENEN, NCSTN
15
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.3DSG2, DSC2

Compounds for genes affiliated with Hidradenitis Suppurativa

About this section
Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB
See all sources

Compounds related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tazarotene46 1210.2KRT10, KRT1
2isotretinoin46 1210.2KRT10, KRT1
3isoleucine469.1KRT10, KRT1
4bromodeoxyuridine469.1KRT10, KRT1
5hematoxylin469.0KRT1, KRT10
6calcium46 52 25 1210.7DSC2, DSG2, KRT10, KRT1

GO Terms for genes affiliated with Hidradenitis Suppurativa

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:0300579.2DSG2, DSC2
2keratin filamentGO:0450959.1KRT10, KRT1
3extracellular vesicular exosomeGO:0700627.6DSC2, DSG2, NCSTN, KRT10, KRT1
4plasma membraneGO:0058867.3KRT1, DSC2, DSG2, PSENEN, NCSTN

Biological processes related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1amyloid precursor protein catabolic processGO:0429879.9NCSTN, PSENEN
2membrane protein intracellular domain proteolysisGO:0312939.8NCSTN, PSENEN
3membrane protein ectodomain proteolysisGO:0065099.8NCSTN, PSENEN
4Notch receptor processingGO:0072209.7PSENEN, NCSTN
5protein processingGO:0164859.7NCSTN, PSENEN
6positive regulation of catalytic activityGO:0430859.6NCSTN, PSENEN
7bundle of His cell to Purkinje myocyte communicationGO:0860699.6DSG2, DSC2
8ventricular cardiac muscle cell action potentialGO:0860059.5DSC2, DSG2
9apoptotic signaling pathwayGO:0971909.5PSENEN, NCSTN
10regulation of heart rate by cardiac conductionGO:0860919.5DSG2, DSC2
11homophilic cell adhesionGO:0071569.3DSG2, DSC2
12Notch signaling pathwayGO:0072199.3NCSTN, PSENEN

Products for genes affiliated with Hidradenitis Suppurativa

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hidradenitis Suppurativa

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet