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Items: 1 to 20 of 116

1.

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M.

J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24.

PMID:
21601946
2.

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L.

Pediatr Dermatol. 2016 May;33(3):337-42. doi: 10.1111/pde.12841. Epub 2016 Apr 4. Review.

PMID:
27041546
3.

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.

Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY.

Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x.

PMID:
22098151
4.

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ.

Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6.

5.

First case of pachyonychia congenita in the Czech Republic.

Jiráková A, Rajská L, Rob F, Džambová M, Sečníková Z, Göpfertová D, Schwartz M, Smith F, Lotti T, Hercogová J.

Dermatol Ther. 2015 Jan-Feb;28(1):10-2. doi: 10.1111/dth.12142. Epub 2014 Aug 29.

PMID:
25174302
6.

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.

J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.

PMID:
22264670
7.

Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.

Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN.

Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.

PMID:
22668561
8.

A large mutational study in pachyonychia congenita.

Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17.

9.

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.

Agarwala M, Salphale P, Peter D, Wilson NJ, Pulimood S, Schwartz ME, Smith FJD.

Indian J Dermatol. 2017 Jul-Aug;62(4):422-426. doi: 10.4103/ijd.IJD_321_16.

10.

Pachyonychia congenita in pediatric patients: natural history, features, and impact.

Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.

JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448.

PMID:
24132595
11.

Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

Gruber R, Wilson NJ, Smith FJ, Grabher D, Steinwender L, Fritsch PO, Schmuth M.

Br J Dermatol. 2009 Dec;161(6):1391-5. doi: 10.1111/j.1365-2133.2009.09471.x. Epub 2009 Sep 28.

PMID:
19785597
12.

Neuromuscular adverse effects associated with systemic retinoid dermatotherapy: monitoring and treatment algorithm for clinicians.

Chroni E, Monastirli A, Tsambaos D.

Drug Saf. 2010 Jan 1;33(1):25-34. doi: 10.2165/11319020-000000000-00000. Review.

PMID:
20000864
13.

Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.

Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL.

J Dermatol Sci. 2009 Nov;56(2):82-8. doi: 10.1016/j.jdermsci.2009.07.008. Epub 2009 Aug 21.

PMID:
19699613
14.

Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.

González-Ramos J, Sendagorta-Cudós E, González-López G, Mayor-Ibarguren A, Feltes-Ochoa R, Herranz-Pinto P.

Dermatol Ther. 2016 Jan-Feb;29(1):32-6. doi: 10.1111/dth.12297. Epub 2015 Oct 7.

PMID:
26445325
15.

Systemic retinoids in chemoprevention of non-melanoma skin cancer.

Lens M, Medenica L.

Expert Opin Pharmacother. 2008 Jun;9(8):1363-74. doi: 10.1517/14656566.9.8.1363 . Review.

PMID:
18473710
16.

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.

Harris K, Hull PR, Hansen CD, Smith FJ, McLean WH, Arbiser JL, Leachman SA.

Br J Dermatol. 2012 Jan;166(1):124-8. doi: 10.1111/j.1365-2133.2011.10537.x.

PMID:
21790523
17.

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.

Dai L, Wu J, Guo H, Huang Y, Zhang K, Liu D, Fu L, Wu Y, Guan X, Bai Y, Liao Q.

Eur J Pediatr. 2014 Jun;173(6):737-41. doi: 10.1007/s00431-013-2236-8. Epub 2013 Dec 20.

PMID:
24357266
18.

Best treatment practices for pachyonychia congenita.

Goldberg I, Fruchter D, Meilick A, Schwartz ME, Sprecher E.

J Eur Acad Dermatol Venereol. 2014 Mar;28(3):279-85. doi: 10.1111/jdv.12098. Epub 2013 Jan 30.

PMID:
23363249
19.

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Almutawa F, Thusaringam T, Watters K, Gayden T, Jabado N, Sasseville D.

Case Rep Dermatol. 2015 Aug 19;7(2):220-6. doi: 10.1159/000438920. eCollection 2015 May-Aug.

20.

Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.

Lessard JC, Coulombe PA.

J Invest Dermatol. 2012 May;132(5):1384-91. doi: 10.1038/jid.2012.6. Epub 2012 Feb 16.

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