A Report of Two Patients with Darier Disease and Hidradenitis Suppurativa

Ornelas, Jennifer; Sivamani, Raja K; Awasthi, Smita

doi:10.1111/pde.12891

Cited by 9 publications

(5 citation statements)

References 5 publications

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“…Rare associations with HS include nevus comedonicus syndrome, keratitis ichthyosis deafness syndrome, pachyonychia congenita types 1 and 2, and Dent 2 disease. [60][61][62][63][64][65][66][67] The etiological relationship between HS and these syndromes is yet to be determined, though these findings offer an intriguing avenue for future investigation.…”

Section: Genes Involved In Epidermal Proliferation Barrier Functionmentioning

confidence: 99%

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

et al. 2019

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Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder. A genetic component in the pathogenesis is highly likely considering that ~30% to 40% of patients with HS report a family history of the disease. The genetic mutations related to HS that have been reported to date suggest HS can be inherited as a monogenic trait because of a defect in either the Notch signaling pathway or inflammasome function, or as a polygenic disorder resulting from defects in genes regulating epidermal proliferation, ceramide production, or in immune system function. This review provides a summary of genetic mutations reported in patients diagnosed with HS and discusses the mechanisms by which these genes are involved in its pathogenesis.

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Section: Genes Involved In Epidermal Proliferation Barrier Functionmentioning

confidence: 99%

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

et al. 2019

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“…Haplotypes of tumour necrosis factor‐α and interleukin‐(IL)‐12 augment the onset and severity of HS and may be confounding alleles in the pathogenicity of γ‐secretase sequence variants . Reports of individuals with HS associated with other complex polygenic disorders have identified a number of sequence variants and haplotypes that associate with HS (Table ) . These variants would be appropriate for further exploration in a polygenic model of disease in individuals with sporadic HS.…”

Section: Resultsmentioning

confidence: 99%

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa

et al. 2017

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Hidradenitis suppurativa (HS) is a severe chronic inflammatory disorder characterized by recurrent painful deep-seated nodules with a predilection to the apocrine-bearing areas of skin. A minority of cases of HS are due to mutations in the γ-secretase complex. Contention exists surrounding the pathogenicity of sequence variants and their effects upon Notch signalling. This systematic review was registered with PROSPERO (CRD42016041425) and was conducted in line with the PRISMA statement. Eligibility criteria for this review included published case reports, case series and reviews that identified sequence variants or protein or functional studies from patients with HS. Sixty-two articles were identified reporting a total of 41 sequence variants - heterozygous missense (nine), splice site (nine), insertion resulting in frameshift (one), premature termination codon (19) and promoter region PSTPIP1 (three) - with 18 associated protein or functional studies. The American College of Medical Genetics and Genomics standards and guidelines on the interpretation of sequence variants were applied to each identified variant to assess evidence for pathogenicity. Twenty-three variants were assessed as likely pathogenic, 17 of uncertain significance and one benign. The large number of variants of 'uncertain significance' is largely due to the variable number of functional studies. Four studies used Notch as a proxy for γ-secretase function, with conclusions of nonpathogenicity based on the assumption of Notch signalling as the sole pathogenic process. The role of Notch-independent signalling mechanisms requires further research. Limitations to this study include identification of variants of Mendelian inheritance and not complex polygenic traits.

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“…The predisposition to infection might be the reason for the chronic otitis media that eventuated in SNHL. Other associations reported in at least two or more articles include epilepsy, mental retardation, depression, nephritis and hidradenitis suppurativa [3][4][5]8,9].…”

Section: Discussionmentioning

confidence: 99%

“…Secondary skin infections with bacteria, fungi and viruses are common [3,4]. Reports exist of its association with several other disease entities such as hidradenitis suppurativa, ankylosing spondylitis, nephritis and, more commonly, neurocognitive/psychiatric manifestations such as mental retardation, mood disorders and epilepsy [3][4][5][6][7][8][9][10]. There are rare reports of reduced auditory perception due to keratotic debris [9,11], but a thorough literature search yielded no association with sensorineural hearing loss (SNHL).…”

Section: Introductionmentioning

confidence: 99%

Darier-White Disease with Sensorineural Hearing Loss – A Case Report

Henshaw¹,

Ekpenyong²,

Ekafor³

2022

rmj

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Darier-White disease (keratosis follicularis) is a rare autosomal dominant genodermatosis characterized by hyperkeratotic papules and plaques in seborrheic areas, often presenting with nail abnormalities and occasionally mucous membrane changes.It has been associated with neurocognitive/psychiatric disorders, ankylosing spondylitis, hidradenitis suppurativa and nephritis. Affected individuals also have an increased tendency to cutaneous infections. However, a thorough literature search showed no association with sensorineural hearing loss. We herein report the case of a 34-year-old Nigerian man with disfiguring Darier-White disease (DWD) associated with spondyloarthropathy and sensorineural hearing loss. We affirm that early diagnosis, prompt and appropriate therapy and adequate patient education can avert undesirable outcomes.

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A Report of Two Patients with Darier Disease and Hidradenitis Suppurativa

Cited by 9 publications

References 5 publications

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa

Darier-White Disease with Sensorineural Hearing Loss – A Case Report

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