Focal <scp>PPK</scp> secondary to a novel <scp>KRT</scp>6C mutation (Pachyonychia congenita‐K6c)

Wee, J. S.; Smith, Frances J.D.; Wilson, Neil; O’Toole, Edel A.

doi:10.1111/jdv.13259

Cited by 3 publications

(3 citation statements)

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“…Our data confirmed the previous reports of gene-specific disease courses in PC, specifically PC-K6a having an earlier onset and more severe nail symptoms [49] and PC-K6c expressing milder clinical manifestations than other gene defects [49, 50]. The data also corroborated earlier genotype-phenotype correlations regarding K16 mutations [50, 51], with this mutation being associated with higher numbers of fingernails and toenails affected, earlier age of onset, and a relatively high degree of variation of symptoms.…”

Section: Discussion/conclusionsupporting

confidence: 92%

“…The data also corroborated earlier genotype-phenotype correlations regarding K16 mutations [50, 51], with this mutation being associated with higher numbers of fingernails and toenails affected, earlier age of onset, and a relatively high degree of variation of symptoms. Similar genotype-phenotype associations are also found in K17 mutation cases [49]. Continuously validating the literature is crucial for maintaining an accurate clinical profile of PC to effectively care for patients.…”

Section: Discussion/conclusionmentioning

confidence: 61%

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Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes

Lipner

2021

Skin Appendage Disord

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Introduction: Pachyonychia congenita (PC) is a rare dermatosis that confers lifelong physical and emotional morbidities in affected patients. However, the clinical findings, treatments, and psychosocial impact of this disease have not been adequately described. The International PC Research Registry (IPCRR), a multinational initiative to collect data on PC patients, has allowed an opportunity to distinguish the salient features of this disease. We aimed to characterize the breadth and extent of nail disease, treatments, and quality of life in PC patients, and to describe any significant differences in clinical presentation or treatment of PC subtypes. Methods: The most recent IPCRR patient survey data consisting of an 857-response questionnaire and a 102-response addendum were analyzed in a retrospective analysis. The survey data were collected as part of a multinational, multicenter initiative and comprise the largest representative population of PC to date. Participants (survey respondents) were included in the study based on questionnaire responses and a genetic confirmation of having a PC subtype. Results: A total of 857 survey responses were collected. Genetic variations among PC subtypes influence nail disease onset and severity of symptoms. Nail disease negatively impacts patients’ emotional health, especially during the adolescent and young adult years. Nail treatment tools vary little in terms of effectiveness and acquired infection rates. Conclusion and Discussion: Patients with different PC subtypes have distinct clinical nail presentations and psychosocial impact. Genetic testing should be used to confirm PC diagnoses. Further characterization of PC, especially the rarer subtypes, may allow for more individualized patient education.

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Section: Discussion/conclusionsupporting

confidence: 92%

Section: Discussion/conclusionmentioning

confidence: 61%

Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes

Lipner

2021

Skin Appendage Disord

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“…Other large study series 3 or individual case reports 9 have highlighted the severity of the classical symptoms, their earlier onset in patients with KRT6A gene mutations, while milder forms were associated with other mutations such as KRT6C. 10 In conclusion, we have reported on a novel mutation in KRT6A gene arising de novo and causing a severe form of PC with an early childhood presentation, highlighting functional impact of the novel p.Leu469ArgfsX1 mutation. The severity of the phenotype is due to the truncation of the TYRKLLEGE sequence motif and to the loss of the entire tail regions, which are essential for the cytokeratin filament polymerization and stability.…”

mentioning

confidence: 59%