Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1‐1q25.3 region

Al-Ali, Faiza Mohamed; Ratnamala, Uppala; Mehta, Timir Y.; Naveed, Mohammed; Al-Ali, Mahmoud Taleb; Al-Khaja, Najib; Sheth, Jayesh; Master, Dilipkumar C.; Maiti, Amit K.; Chetan, G. K.; Nath, Swapan K.; Radhakrishna, Uppala

doi:10.1111/j.1600-0625.2010.01088.x

Cited by 35 publications

(13 citation statements)

References 30 publications

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“…Up to 40% of patients have a positive family history, suggesting a genetic involvement, most likely with autosomal dominant transmission. 5,10 Hormonal factors certainly have a role in the onset of the disease, since high frequencies of occurrence are in the postpubertal and premenopausal period. In addition, androgen-containing drugs precipitate the appearance or worsen the situation, and antiandrogenic medication has beneficial effects on suppurative hidradenitis.…”

Section: Etiopathologymentioning

confidence: 99%

Multidisciplinary Management of Adolescents with Hidradenitis Suppurativa – Series of Cases and Literature Review

Ţarcă¹,

Cojocaru²,

Caba³

et al. 2021

JMDH

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Hidradenitis suppurativa (HS) is a recurrent chronic inflammatory condition of the skin with a debilitating potential, especially in adolescents who may experience psychosocial disorders and impaired quality of life. Recognition of typical, recurrent lesions, history of the disease and family investigation establishes the diagnosis. The rarity of the disease in males and the appearance of this condition in children, which is also rare, in two of our adolescent patients, respectively, are the reasons for publishing this article. We reviewed the literature and found that variation exists across international treatment for this HS, and much collaboration is needed to put forth unified and updated recommendations. It is of major importance that the early recognition of the condition and the establishment of treatment in the multidisciplinary team. Psychotherapy, health education, the adoption of a healthy lifestyle, the application of local prevention measures, and long-term medical treatment are components of a correct management. Extensive surgical treatment should be restricted only to severe cases because it may lead to complications, extend the hospitalization period and increase psychological problems in adolescents. The treatment will be personalized, performed according to the stage of evolution, and the approach will be a multidisciplinary one.

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Section: Etiopathologymentioning

confidence: 99%

Multidisciplinary Management of Adolescents with Hidradenitis Suppurativa – Series of Cases and Literature Review

Ţarcă¹,

Cojocaru²,

Caba³

et al. 2021

JMDH

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“…7 Around a third of patients report a positive family history for HS, with an autosomal dominant pattern of inheritance. 14,15 Family history has been associated with early onset HS. 16 Many genes have been implicated in the pathogenesis of the disease with these encoding for expression of the subunits of γ-secretase complex being the most well described.…”

Section: Epidemiologymentioning

confidence: 99%

Hidradenitis suppurativa: infection, autoimmunity, or both?

Constantinou¹,

Fragoulis

Nikiphorou

2019

Therapeutic Advances in Musculoskeletal

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Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease mainly affecting areas rich in apocrine glands. Clinically, is characterized by painful subcutaneous nodules and if left untreated to pus secretion, abscess and fistula formation. Its frequency is estimated to be 0.5–4% of the general population, affecting women more often. Pathogenesis of HS is still not clearly defined. It seems to be a combination of genetic factors with alterations in the skin microbiome. Furthermore, at tissue (i.e. skin) as well as at serum level, several inflammatory cytokines are upregulated. The most important of the latter are tumor necrosis factor (TNF), interleukin (IL)-1, IL-17, and IL-23. Adding another level of complexity, it has been suggested that keratinocytes might be intrinsically activated, contributing also to the observed inflammation. Interestingly, it has been noted that frequency of HS is increased in some autoimmune rheumatic diseases, such as spondyloarthropathies (SpA). Of note, both HS and SpA have relatively strong association with metabolic diseases and obesity implying that there are indeed some common underlying pathophysiological pathways. Although no specific microbe has been identified, alterations in the microbiome of the skin of these patients have been reported. Of note, microbes with a capability for biofilm formation are abundant. Treatment of HS among others, include antibiotics as well as biologic drugs targeting TNF and other cytokines and used for autoimmune rheumatic diseases. Herein, we review the current evidence on links between HS and autoimmune diseases and infectious diseases with a focus on epidemiology and pathophysiology.

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“…The methylome is genetically determined and environmentally modulated, at the same time, family cases of HS displayed a mutation in the γ‐secretase complex 18–20 . The entire HS pathogenesis remains obscure and in particular the trigger of the dysregulated immune response, the cytokinic initial microenvironment, and its maintenance 21–25 .…”

Section: Introductionmentioning

confidence: 99%

Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

Radhakrishna

Uppala

Jhala

et al. 2023

Acad Dermatol Venereol

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BackgroundHidradenitis suppurativa (HS) is a chronic, systemic, inflammatory skin condition with elusive pathogenesis that affects therapeutic intervention directly.ObjectiveTo characterize epigenetic variations in cytokines genes contributing to HS.MethodsEpigenome‐wide DNA methylation profiling with the Illumina Epic array was performed on blood DNA samples from 24 HS patients and 24 age‐ and sex‐matched controls to explore DNA methylation changes in cytokine genes.ResultsWe identified 170 cytokine genes including 27 hypermethylated CpG sites and 143 genes with hypomethylated sites respectively. Hypermethylated genes, including LIF, HLA‐DRB1, HLA‐G, MTOR, FADD, TGFB3, MALAT1 and CCL28; hypomethylated genes, including NCSTN, SMAD3, IGF1R, IL1F9, NOD2, NOD1, YY1, DLL1 and BCL2 may contribute to the pathogenesis of HS. These genes were enriched in the 117 different pathways (FDR p‐values ≤ 0.05), including IL‐4/IL‐13 pathways and Wnt/β‐catenin signalling.ConclusionsThe lack of wound healing, microbiome dysbiosis and increased tumour susceptibility are all sustained by these dysfunctional methylomes, hopefully, capable to be targeted in the next future. Since methylome describes and summarizes genetic and environmental contributions, these data may represent a further step towards a feasible precision medicine also for HS patients.

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Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1‐1q25.3 region

Cited by 35 publications

References 30 publications

Multidisciplinary Management of Adolescents with Hidradenitis Suppurativa – Series of Cases and Literature Review

Multidisciplinary Management of Adolescents with Hidradenitis Suppurativa – Series of Cases and Literature Review

Hidradenitis suppurativa: infection, autoimmunity, or both?

Hidradenitis suppurativa presents a methylome dysregulation capable to explain the pro‐inflammatory microenvironment: Are theseDNAmethylations potential therapeutic targets?

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