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Quoted phrase not found in phrase index: "Pachyonychia congenita 1"
Page 1
Keratins and skin disease.
Knöbel M, O'Toole EA, Smith FJ. Knöbel M, et al. Cell Tissue Res. 2015 Jun;360(3):583-9. doi: 10.1007/s00441-014-2105-4. Epub 2015 Jan 27. Cell Tissue Res. 2015. PMID: 25620412 Review.
Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell-cell adhesion. …
Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia con …
Clinical and pathological features of pachyonychia congenita.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Leachman SA, et al. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250204 Free article. Review.
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. ...Possible pathogenic mechanisms are discussed with respect to the clinicopathologic and genetic correlations observed....
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. ...Poss …
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 …
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S, Hovnanian A. Duchatelet S, et al. Orphanet J Rare Dis. 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. Orphanet J Rare Dis. 2015. PMID: 25886873 Free PMC article. Review.
The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. .. …
The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, …
Pachyonychia congenita tarda.
Mouaci-Midoun N, Cambiaghi S, Abimelec P. Mouaci-Midoun N, et al. J Am Acad Dermatol. 1996 Aug;35(2 Pt 2):334-5. doi: 10.1016/s0190-9622(96)90663-5. J Am Acad Dermatol. 1996. PMID: 8698920
Pachyonychia congenita is a rare genetic disorder classified in clinical subtypes. ...This report substantiates previous observations on the phenomenon of late-onset pachyonychia congenita....
Pachyonychia congenita is a rare genetic disorder classified in clinical subtypes. ...This report substantiates previous ob …
Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
Samuelov L, Smith FJD, Hansen CD, Sprecher E. Samuelov L, et al. Br J Dermatol. 2020 Mar;182(3):738-746. doi: 10.1111/bjd.18794. Epub 2020 Jan 14. Br J Dermatol. 2020. PMID: 31823354
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). ...Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by …
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin …
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 …
The molecular basis for inherited bullous diseases.
Korge BP, Krieg T. Korge BP, et al. J Mol Med (Berl). 1996 Feb;74(2):59-70. doi: 10.1007/BF00196781. J Mol Med (Berl). 1996. PMID: 8820401 Review.
These diseases encompass the group of epidermolysis bullosa and disorders of cornification such as bullous forms of ichthyosis, palmoplantar keratoderma, and pachyonychia congenita. On the basis of clinical, morphological, and ultrastructural observations the …
These diseases encompass the group of epidermolysis bullosa and disorders of cornification such as bullous forms of ichthyosis, palmoplantar …
The molecular genetics of keratin disorders.
Smith F. Smith F. Am J Clin Dermatol. 2003;4(5):347-64. doi: 10.2165/00128071-200304050-00005. Am J Clin Dermatol. 2003. PMID: 12688839 Review.
Epidermolysis bullosa simplex (EBS) was the first human disorder to be associated with keratin mutations. The abnormal keratin filament aggregates observed in basal cell keratinocytes of some EBS patients are composed of keratins K5 and K14. ...These include ichthyosis bul …
Epidermolysis bullosa simplex (EBS) was the first human disorder to be associated with keratin mutations. The abnormal keratin filament aggr …
Chronic pain in pachyonychia congenita: evidence for neuropathic origin.
Brill S, Sprecher E, Smith FJD, Geva N, Gruener H, Nahman-Averbuch H, Defrin R. Brill S, et al. Br J Dermatol. 2018 Jul;179(1):154-162. doi: 10.1111/bjd.16217. Epub 2018 Apr 25. Br J Dermatol. 2018. PMID: 29210461
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant skin disease, with chronic pain being the most prominent complaint. ...RESULTS: A moderate-to-severe chronic pain in the feet, throbbing and stabbing in quality, was highly prevalent among patients …
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant skin disease, with chronic pain being the most prominent …
55 results