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Familial acne inversa

MedGen UID:
326766
Concept ID:
C1840560
Disease or Syndrome
Synonym: Hidradenitis suppurativa, familial
 
Monarch Initiative: MONDO:0024516
OMIM®: 142690
OMIM® Phenotypic series: PS142690

Definition

Acne inversa, also known as hidradenitis suppurativa, is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring (summary by Jansen et al., 2001). Squamous cell carcinoma is a rare but potentially lethal complication that may develop in affected skin (Nishimori et al., 2020). Jansen et al. (2001) provided a detailed history and review of the disorder. Genetic Heterogeneity of Familial Acne Inversa Familial acne inversa-2 with or without Dowling-Degos disease (ACNINV2; 613736) is caused by mutation in the PSENEN gene (607632) on chromosome 19q13, and familial acne inversa-3 (ACNINV3; 613737) is caused by mutation in the PSEN1 gene (104311) on chromosome 14q24. [from OMIM]

Additional description

From MedlinePlus Genetics
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.

The signs and symptoms of hidradenitis suppurativa typically appear after puberty, usually in a person's teens or twenties, although they can begin earlier in puberty, particularly in affected females. Nodules are most likely to form in the armpits and groin. They may also develop around the anus, on the buttocks, or under the breasts. In some cases, nodules appear in other areas, such as the nape of the neck, waist, and inner thighs.

The recurrent nodules and abscesses cause chronic pain and can lead to self-consciousness, social isolation, and depression. Rarely, long-term (chronic) abscesses on the buttocks can develop into a type of skin cancer called squamous cell carcinoma.   https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa

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
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

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

Diagnosis

Jansen I, Altmeyer P, Piewig G
J Eur Acad Dermatol Venereol 2001 Nov;15(6):532-40. doi: 10.1046/j.1468-3083.2001.00303.x. PMID: 11843212

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
Jansen I, Altmeyer P, Piewig G
J Eur Acad Dermatol Venereol 2001 Nov;15(6):532-40. doi: 10.1046/j.1468-3083.2001.00303.x. PMID: 11843212

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
Jansen I, Altmeyer P, Piewig G
J Eur Acad Dermatol Venereol 2001 Nov;15(6):532-40. doi: 10.1046/j.1468-3083.2001.00303.x. PMID: 11843212

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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