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Quoted phrase not found in phrase index: "Pachyonychia congenita 1"
Page 1
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A. Martina E, et al. Toxins (Basel). 2021 Feb 5;13(2):120. doi: 10.3390/toxins13020120. Toxins (Basel). 2021. PMID: 33562846 Free PMC article.
The best-reported evidence concerns focal idiopathic hyperhidrosis, Raynaud phenomenon, suppurative hidradenitis, Hailey-Hailey disease, epidermolysis bullosa simplex Weber-Cockayne type, Darier's disease, pachyonychia congenita, aquagenic keratoderma, alopecia, pso …
The best-reported evidence concerns focal idiopathic hyperhidrosis, Raynaud phenomenon, suppurative hidradenitis, Hailey-Hailey disease, epi …
Pachyonychia congenita.
Feinstein A, Friedman J, Schewach-Millet M. Feinstein A, et al. J Am Acad Dermatol. 1988 Oct;19(4):705-11. doi: 10.1016/s0190-9622(88)70226-1. J Am Acad Dermatol. 1988. PMID: 3053803 Review.
Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey since its first description in 1904 up to 1985 revealed 168 cases of pachyonychia cong
Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and muc
Management of Plantar Keratodermas(Lessons from Pachyonychia Congenita).
Porter RM, Bravo AA, Smith FJD. Porter RM, et al. J Am Podiatr Med Assoc. 2017 Sep;107(5):428-435. doi: 10.7547/16-043. J Am Podiatr Med Assoc. 2017. PMID: 29077501 Review.
This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. ...This finding has stimulated a drive for alternative treatment option …
This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly p …
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV. Chu HT, et al. Pediatr Neonatol. 2023 Jul;64(4):405-410. doi: 10.1016/j.pedneo.2022.09.018. Epub 2023 Jan 3. Pediatr Neonatol. 2023. PMID: 36658016 Free article.
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). ...
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin …
The phenotypic and molecular genetic features of pachyonychia congenita.
McLean WH, Hansen CD, Eliason MJ, Smith FJ. McLean WH, et al. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. J Invest Dermatol. 2011. PMID: 21430705 Free article. Review.
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. ...
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes e
Keratin disorders: from gene to therapy.
McLean WH, Moore CB. McLean WH, et al. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Hum Mol Genet. 2011. PMID: 21890491 Review.
To date, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita and Messmann epithelial corneal dystrophy-causing missense mutations have been developed and proven to have unprecedented specificity and potency. ...
To date, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita and Messmann epithelial corneal dyst …
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG. Pinna R, et al. Periodontol 2000. 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. Periodontol 2000. 2019. PMID: 31090139 Review.
This review describes chondro-ectodermal dysplasia, dyskeratosis congenita, Ehlers-Danlos syndrome, hereditary benign intraepithelial dyskeratosis, keratosis follicularis, lipoid proteinosis, multiple hamartoma syndrome, pachyonychia congenita, Peutz-Jeghers …
This review describes chondro-ectodermal dysplasia, dyskeratosis congenita, Ehlers-Danlos syndrome, hereditary benign intraepithelial …
How do keratinizing disorders and blistering disorders overlap?
Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T. Hamada T, et al. Exp Dermatol. 2013 Feb;22(2):83-7. doi: 10.1111/exd.12021. Epub 2012 Oct 8. Exp Dermatol. 2013. PMID: 23039137 Free article. Review.
Finally, gene mutations in epidermal keratins cause epidermolysis bullosa simplex, epidermolytic ichthyosis, superficial epidermolytic ichthyosis, epidermolytic palmoplantar keratoderma and pachyonychia congenita/focal palmoplantar keratoderma, which show thickening …
Finally, gene mutations in epidermal keratins cause epidermolysis bullosa simplex, epidermolytic ichthyosis, superficial epidermolytic ichth …
Defining patient-centered research priorities in pediatric dermatology.
Neale H, Schrandt S, Abbott BM, Austin J, Brand C, Camp K, Devenport K, Hall M, Isbell L, Miciano C, Pry S, Quinn P, Rittle J, Tenconi F, Terrell J, Weiss M, Zavitz S, Siegel M. Neale H, et al. Pediatr Dermatol. 2023 Mar;40(2):250-257. doi: 10.1111/pde.15199. Epub 2022 Nov 28. Pediatr Dermatol. 2023. PMID: 36443263
RESULTS: Fourteen PtAC members (86.7% female) representing patients with alopecia areata, atopic dermatitis, vascular birthmarks, congenital melanocytic nevi, ectodermal dysplasias, epidermolysis bullosa, Gorlin syndrome, hidradenitis suppurativa, ichthyosis, pemphigus, psoriasis …
RESULTS: Fourteen PtAC members (86.7% female) representing patients with alopecia areata, atopic dermatitis, vascular birthmarks, congenital …
Peripheral neuropathic changes in pachyonychia congenita.
Pan B, Byrnes K, Schwartz M, Hansen CD, Campbell CM, Krupiczojc M, Caterina MJ, Polydefkis M. Pan B, et al. Pain. 2016 Dec;157(12):2843-2853. doi: 10.1097/j.pain.0000000000000711. Pain. 2016. PMID: 27776012
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation i …
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pac
52 results