KEGG   DISEASE: Acne inversa
Entry
H00681                      Disease                                
Name
Acne inversa;
Hidradenitis suppurativa
Description
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic inflammatory disorder of hair follicles involving the apocrine gland-bearing areas of the body. Its characteristic features include recurrent formation of painful skin abscesses, fistulating sinuses, and disfiguring scars.
Category
Skin disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the epidermis and epidermal appendages
    Disorders of the hair follicle
     ED92  Disorders involving the apocrine follicular unit
      H00681  Acne inversa
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06511  NOTCH signaling
   H00681  Acne inversa
Pathway
hsa04330  Notch signaling pathway
Network
nt06511 NOTCH signaling
Gene
(ACNINV1) NCSTN [HSA:23385] [KO:K06171]
(ACNINV2) PSENEN [HSA:55851] [KO:K06170]
(ACNINV3) PSEN1 [HSA:5663] [KO:K04505]
Drug
Adalimumab [DR:D02597]
Other DBs
ICD-11: ED92.0
ICD-10: L73.2
MeSH: D017497
OMIM: 613737 142690 613736
Reference
  Authors
Yazdanyar S, Jemec GB
  Title
Hidradenitis suppurativa: a review of cause and treatment.
  Journal
Curr Opin Infect Dis 24:118-23 (2011)
DOI:10.1097/QCO.0b013e3283428d07
Reference
PMID:21495993 (ACNINV1/2/3)
  Authors
Li CR, Jiang MJ, Shen DB, Xu HX, Wang HS, Yao X, Zhang Y, Zhou WQ, Wang B
  Title
Two novel mutations of the nicastrin gene in Chinese patients with acne inversa.
  Journal
Br J Dermatol 165:415-8 (2011)
DOI:10.1111/j.1365-2133.2011.10372.x
Reference
PMID:20929727 (ACNINV1/2/3)
  Authors
Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
  Title
Gamma-secretase gene mutations in familial acne inversa.
  Journal
Science 330:1065 (2010)
DOI:10.1126/science.1196284
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