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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.

Professional guidelines

PubMed

Suhrkamp I, Gerdes S
Br J Dermatol 2023 Sep 15;189(4):365-366. doi: 10.1093/bjd/ljad225. PMID: 37427780
Aarts P, Dudink K, Vossen ARJV, van Straalen KR, Ardon CB, Prens EP, van der Zee HH
Drugs 2021 Aug;81(12):1397-1410. Epub 2021 Jul 20 doi: 10.1007/s40265-021-01566-2. PMID: 34283386Free PMC Article
Cugno M, Borghi A, Marzano AV
Am J Clin Dermatol 2017 Aug;18(4):555-562. doi: 10.1007/s40257-017-0265-1. PMID: 28236224

Recent clinical studies

Etiology

McGrath C, Steyn M, Rashidghamat E
Int J Dermatol 2024 Jul;63(7):904-906. Epub 2024 Jan 25 doi: 10.1111/ijd.17049. PMID: 38273707
Salame N, Sow YN, Siira MR, Garg A, Chen SC, Patzer RE, Kavalieratos D, Orenstein LAV
JAMA Dermatol 2024 Feb 1;160(2):179-186. doi: 10.1001/jamadermatol.2023.5425. PMID: 38198173Free PMC Article
Yang Y, Bagyinszky E, An SSA
Int J Mol Sci 2023 May 8;24(9) doi: 10.3390/ijms24098417. PMID: 37176125Free PMC Article
Veraldi S, Guanziroli E, Benzecry V, Nazzaro G
J Eur Acad Dermatol Venereol 2019 Oct;33 Suppl 6:34-35. doi: 10.1111/jdv.15822. PMID: 31535757
Pink A, Anzengruber F, Navarini AA
Br J Dermatol 2018 Mar;178(3):619-631. Epub 2018 Jan 30 doi: 10.1111/bjd.16231. PMID: 29380349

Diagnosis

Durgu N, Ozan E, Gencoglan G
Adv Skin Wound Care 2023 Dec 1;36(12):1-6. doi: 10.1097/ASW.0000000000000067. PMID: 37983582
Jfri AH, O'Brien EA, Litvinov IV, Alavi A, Netchiporouk E
J Cutan Med Surg 2019 Sep/Oct;23(5):519-527. Epub 2019 Jun 6 doi: 10.1177/1203475419852049. PMID: 31167568
Vural S, Gündoğdu M, Gökpınar İli E, Durmaz CD, Vural A, Steinmüller-Magin L, Kleinhempel A, Holdt LM, Ruzicka T, Giehl KA, Ruhi HI, Boyvat A
Br J Dermatol 2019 Jun;180(6):1459-1467. Epub 2019 Feb 20 doi: 10.1111/bjd.17466. PMID: 30488432
Pink A, Anzengruber F, Navarini AA
Br J Dermatol 2018 Mar;178(3):619-631. Epub 2018 Jan 30 doi: 10.1111/bjd.16231. PMID: 29380349
Cugno M, Borghi A, Marzano AV
Am J Clin Dermatol 2017 Aug;18(4):555-562. doi: 10.1007/s40257-017-0265-1. PMID: 28236224

Therapy

Calabrese L, Malvaso D, Coscarella G, Antonelli F, D'Amore A, Gori N, Rubegni P, Peris K, Chiricozzi A
Biomolecules 2024 Feb 1;14(2) doi: 10.3390/biom14020175. PMID: 38397412Free PMC Article
Salame N, Sow YN, Siira MR, Garg A, Chen SC, Patzer RE, Kavalieratos D, Orenstein LAV
JAMA Dermatol 2024 Feb 1;160(2):179-186. doi: 10.1001/jamadermatol.2023.5425. PMID: 38198173Free PMC Article
Moran B, Smith CM, Zaborowski A, Ryan M, Karman J, Dunstan RW, Smith KM, Hambly R, Musilova J, Petrasca A, Fabre A, O'Donnell M, Hokamp K, Mills KHG, Housley WJ, Winter DC, Kirby B, Fletcher JM
Br J Dermatol 2023 Sep 15;189(4):447-458. doi: 10.1093/bjd/ljad184. PMID: 37243544
Arnold DD, Yalamanoglu A, Boyman O
Front Immunol 2022;13:888392. Epub 2022 Jul 6 doi: 10.3389/fimmu.2022.888392. PMID: 35874710Free PMC Article
Pink A, Anzengruber F, Navarini AA
Br J Dermatol 2018 Mar;178(3):619-631. Epub 2018 Jan 30 doi: 10.1111/bjd.16231. PMID: 29380349

Prognosis

McGrath C, Steyn M, Rashidghamat E
Int J Dermatol 2024 Jul;63(7):904-906. Epub 2024 Jan 25 doi: 10.1111/ijd.17049. PMID: 38273707
Dessinioti C, Dréno B, Bettoli V, Vural S, Brzezinski P, Nassif A, Svensson Å, Zouboulis CC
J Eur Acad Dermatol Venereol 2024 Jan;38(1):197-204. Epub 2023 Sep 14 doi: 10.1111/jdv.19477. PMID: 37643921
Der Sarkissian S, Hessam S, Kirby JS, Lowes MA, Mintoff D, Naik HB, Ring HC, Chandran NS, Frew JW
JAMA Dermatol 2022 Mar 1;158(3):300-313. doi: 10.1001/jamadermatol.2021.4926. PMID: 35044423Free PMC Article
Kridin K, Amber KT, Comaneshter D, Cohen AD
Clin Exp Dermatol 2020 Jul;45(5):565-571. Epub 2020 Mar 25 doi: 10.1111/ced.14186. PMID: 31989656
Shavit E, Alavi A, Bechara FG, Bennett RG, Bourcier M, Cibotti R, Daveluy S, Frew JW, Garg A, Hamzavi I, Hoffman LK, Hsaio J, Kirby JS, Lev-Tov H, Martinez E, Micheletti R, Naik HB, Nassif A, Nicholson C, Parks-Miller A, Patel Z, Piguet V, Ramesh M, Resnik B, Sayed C, Schultz G, Siddiqui A, Tan J, Wortsman X, Lowes MA
Exp Dermatol 2019 Jan;28(1):94-103. doi: 10.1111/exd.13849. PMID: 30484907Free PMC Article

Clinical prediction guides

Manzo Margiotta F, Gambino G, Pratesi F, Michelucci A, Pisani F, Rossi L, Dini V, Romanelli M, Migliorini P
Exp Dermatol 2024 Sep;33(9):e15179. doi: 10.1111/exd.15179. PMID: 39278731
Bouazzi D, Andersen RK, Vinding GR, Medianfar CE, Nielsen SM, Saunte DML, Chandran NS, van der Zee HH, Zouboulis CC, Benhadou F, Villumsen B, Alavi A, Ibekwe PU, Hamzavi IH, Ingram JR, Naik HB, Garg A, Boer J, Christensen R, Jemec GBE
Dermatology 2024;240(3):369-375. Epub 2024 Feb 14 doi: 10.1159/000536389. PMID: 38354718
McGrath C, Steyn M, Rashidghamat E
Int J Dermatol 2024 Jul;63(7):904-906. Epub 2024 Jan 25 doi: 10.1111/ijd.17049. PMID: 38273707
Salame N, Sow YN, Siira MR, Garg A, Chen SC, Patzer RE, Kavalieratos D, Orenstein LAV
JAMA Dermatol 2024 Feb 1;160(2):179-186. doi: 10.1001/jamadermatol.2023.5425. PMID: 38198173Free PMC Article
Israel A, Schäffer AA, Berkovitch M, Ozeri DJ, Merzon E, Green I, Golan-Cohen A, Ruppin E, Vinker S, Magen E
Front Immunol 2023;14:1232560. Epub 2023 Sep 11 doi: 10.3389/fimmu.2023.1232560. PMID: 37753082Free PMC Article

Recent systematic reviews

Arnold DD, Yalamanoglu A, Boyman O
Front Immunol 2022;13:888392. Epub 2022 Jul 6 doi: 10.3389/fimmu.2022.888392. PMID: 35874710Free PMC Article
Der Sarkissian S, Hessam S, Kirby JS, Lowes MA, Mintoff D, Naik HB, Ring HC, Chandran NS, Frew JW
JAMA Dermatol 2022 Mar 1;158(3):300-313. doi: 10.1001/jamadermatol.2021.4926. PMID: 35044423Free PMC Article
Wang Z, Yan Y, Wang B
Dermatology 2021;237(5):698-704. Epub 2020 Dec 17 doi: 10.1159/000512455. PMID: 33333507Free PMC Article
Tzellos T, Zouboulis CC, Gulliver W, Cohen AD, Wolkenstein P, Jemec GB
Br J Dermatol 2015 Nov;173(5):1142-55. Epub 2015 Sep 22 doi: 10.1111/bjd.14024. PMID: 26153913

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