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Acne inversa, familial, 1(ACNINV1)

MedGen UID:
1631104
Concept ID:
C4551962
Disease or Syndrome
Synonyms: ACNE INVERSA, FAMILIAL, 1; ACNINV1
 
Gene (location): NCSTN (1q23.2)
 
Monarch Initiative: MONDO:0007728
OMIM®: 142690

Definition

Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. [from MONDO]

Clinical features

From HPO
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Acne inversa
MedGen UID:
57993
Concept ID:
C0162836
Disease or Syndrome
A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.

Recent clinical studies

Etiology

He Y, Wang W, Ma X, Duan Z, Wang B, Li M, Xu H
Dermatology 2024;240(1):119-131. Epub 2023 Jul 25 doi: 10.1159/000531978. PMID: 37490873

Therapy

Choi JH, Han J, Theodoropoulos PC, Zhong X, Wang J, Medler D, Ludwig S, Zhan X, Li X, Tang M, Gallagher T, Yu G, Beutler B
Proc Natl Acad Sci U S A 2020 Mar 3;117(9):4894-4901. Epub 2020 Feb 18 doi: 10.1073/pnas.1916645117. PMID: 32071239Free PMC Article

Prognosis

He Y, Xu H, Li C, Zhang X, Zhou P, Xiao X, Zhang W, Wu Y, Zeng R, Wang B
J Invest Dermatol 2019 Jan;139(1):124-134. Epub 2018 Aug 16 doi: 10.1016/j.jid.2018.07.020. PMID: 30120935

Clinical prediction guides

Barthelson K, Dong Y, Newman M, Lardelli M
J Alzheimers Dis 2021;82(1):327-347. doi: 10.3233/JAD-210128. PMID: 34024832
He Y, Xu H, Li C, Zhang X, Zhou P, Xiao X, Zhang W, Wu Y, Zeng R, Wang B
J Invest Dermatol 2019 Jan;139(1):124-134. Epub 2018 Aug 16 doi: 10.1016/j.jid.2018.07.020. PMID: 30120935

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