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Acne inversa, familial, 3(ACNINV3)

MedGen UID:
462388
Concept ID:
C3151038
Disease or Syndrome
Synonym: ACNINV3
 
Gene (location): PSEN1 (14q24.2)
 
Monarch Initiative: MONDO:0013398
OMIM®: 613737

Definition

Acne inversa, also known as hidradenitis suppurativa, 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). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. [from OMIM]

Clinical features

From HPO
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.
Perifolliculitis
MedGen UID:
537539
Concept ID:
C0263006
Disease or Syndrome
Inflammation surrounding hair follicles.
Recurrent cutaneous abscess formation
MedGen UID:
867572
Concept ID:
C4021957
Finding
An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
Chronic furunculosis
MedGen UID:
869103
Concept ID:
C4023521
Disease or Syndrome
A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.

Professional guidelines

PubMed

Dagenet CB, Atluri S, Ma E, Tong L, Tran KA, Hekmatajah J, Masson R, Hsiao JL, Shi VY
Am J Clin Dermatol 2024 Jul;25(4):585-594. Epub 2024 Jun 11 doi: 10.1007/s40257-024-00871-2. PMID: 38861156
Suhrkamp I, Gerdes S
Br J Dermatol 2023 Sep 15;189(4):365-366. doi: 10.1093/bjd/ljad225. PMID: 37427780
Garcovich S, Fania L, Caposiena D, Giovanardi G, Chiricozzi A, De Simone C, Tartaglia C, Ciccone D, Bianchi L, Abeni D, Peris K
J Cutan Med Surg 2022 Mar-Apr;26(2):127-134. Epub 2021 Oct 6 doi: 10.1177/12034754211039993. PMID: 34615396

Recent clinical studies

Etiology

Dagenet CB, Atluri S, Ma E, Tong L, Tran KA, Hekmatajah J, Masson R, Hsiao JL, Shi VY
Am J Clin Dermatol 2024 Jul;25(4):585-594. Epub 2024 Jun 11 doi: 10.1007/s40257-024-00871-2. PMID: 38861156
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
Ortiz-Álvarez J, Hernández-Rodríguez JC, Durán-Romero AJ, Conejo-Mir Sánchez J, Pereyra-Rodríguez JJ, Osorio-Gómez GF
Arch Dermatol Res 2023 Apr;315(3):637-642. Epub 2022 Sep 15 doi: 10.1007/s00403-022-02391-7. PMID: 36107231Free 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
Deckers IE, van der Zee HH, Boer J, Prens EP
J Am Acad Dermatol 2015 Mar;72(3):485-8. Epub 2015 Jan 10 doi: 10.1016/j.jaad.2014.11.017. PMID: 25582541

Diagnosis

Okwundu N, McMichael AJ
Cutis 2024 Mar;113(3):137-140. doi: 10.12788/cutis.0963. PMID: 38648594
Heath CR, Usatine RP
Cutis 2022 Sep;110(3):159-160. doi: 10.12788/cutis.0594. PMID: 36446110
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
Zhang S, Meng J, Jiang M, Zhao J
Acta Derm Venereol 2016 Mar;96(3):408-9. doi: 10.2340/00015555-2259. PMID: 26463457
Meixner D, Schneider S, Krause M, Sterry W
J Dtsch Dermatol Ges 2008 Mar;6(3):189-96. Epub 2007 Dec 17 doi: 10.1111/j.1610-0387.2007.06492.x. PMID: 18093218

Therapy

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
Petrasca A, Hambly R, Kearney N, Smith CM, Pender EK, Mac Mahon J, O'Rourke AM, Ismaiel M, Boland PA, Almeida JP, Kennedy C, Zaborowski A, Murphy S, Winter D, Kirby B, Fletcher JM
Br J Dermatol 2023 Nov 16;189(6):730-740. doi: 10.1093/bjd/ljad305. PMID: 37648653
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
Sjerobabski Masnec I, Franceschi N
Acta Dermatovenerol Croat 2018 Oct;26(3):255-289. PMID: 30390728
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
Bilgic A, Fettahlıoglu Karaman B, Demirseren DD, Cınar L, Kacar N, Türel Ermertcan A, Bulbul Baskan E, Güven M, Yazici S, Özkök Akbulut T, Ucmak D, Ataseven A, Temiz SA, Engin B, Şikar Aktürk A, Sarıcaoğlu H, Güler Özden M, Özdemir H, Mammadli K, Durmaz K, Gülbaşaran F, Kılınc F, Kaya Özden H, Gönülal M, Didar Balcı D, Çevirgen Cemil B, Sarıkaya Solak S, Baykal Selçuk L, Özaydın Yavuz G, Yavuz İH, Dönmez L, Alpsoy E
Dermatology 2023;239(3):445-453. Epub 2023 Jan 26 doi: 10.1159/000529194. PMID: 36702103
Dai YX, Tai YH, Chang YT, Chen TJ, Chen MH
J Affect Disord 2020 Sep 1;274:334-338. Epub 2020 May 25 doi: 10.1016/j.jad.2020.05.070. PMID: 32469824
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

Clinical prediction guides

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
Bilgic A, Fettahlıoglu Karaman B, Demirseren DD, Cınar L, Kacar N, Türel Ermertcan A, Bulbul Baskan E, Güven M, Yazici S, Özkök Akbulut T, Ucmak D, Ataseven A, Temiz SA, Engin B, Şikar Aktürk A, Sarıcaoğlu H, Güler Özden M, Özdemir H, Mammadli K, Durmaz K, Gülbaşaran F, Kılınc F, Kaya Özden H, Gönülal M, Didar Balcı D, Çevirgen Cemil B, Sarıkaya Solak S, Baykal Selçuk L, Özaydın Yavuz G, Yavuz İH, Dönmez L, Alpsoy E
Dermatology 2023;239(3):445-453. Epub 2023 Jan 26 doi: 10.1159/000529194. PMID: 36702103
Orenstein LAV, Salame N, Siira MR, Urbanski M, Flowers NI, Echuri H, Garg A, McKenzie-Brown AM, Curseen KA, Patzer RE, Kavalieratos D, Chen SC
Br J Dermatol 2023 Jan 23;188(1):41-51. doi: 10.1093/bjd/ljac018. PMID: 36689519
Ortiz-Álvarez J, Hernández-Rodríguez JC, Durán-Romero AJ, Conejo-Mir Sánchez J, Pereyra-Rodríguez JJ, Osorio-Gómez GF
Arch Dermatol Res 2023 Apr;315(3):637-642. Epub 2022 Sep 15 doi: 10.1007/s00403-022-02391-7. PMID: 36107231Free PMC Article

Recent systematic reviews

Dagenet CB, Atluri S, Ma E, Tong L, Tran KA, Hekmatajah J, Masson R, Hsiao JL, Shi VY
Am J Clin Dermatol 2024 Jul;25(4):585-594. Epub 2024 Jun 11 doi: 10.1007/s40257-024-00871-2. PMID: 38861156
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
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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