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Items: 1 to 20 of 203

1.

Pachyonychia congenita with laryngeal obstruction.

Haber RM, Drummond D.

Pediatr Dermatol. 2011 Jul-Aug;28(4):429-32. doi: 10.1111/j.1525-1470.2011.01232.x. Epub 2011 May 10.

PMID:
21554383
2.

Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

O'Kane AM, Jackson CP, Mahadevan M, Barber C.

J Laryngol Otol. 2017 Jul;131(S2):S53-S56. doi: 10.1017/S0022215116008264. Epub 2016 Oct 20. Review.

PMID:
27762179
3.

Pachyonychia congenita associated with median rhomboid glossitis.

Karen JK, Schaffer JV.

Dermatol Online J. 2007 Jan 27;13(1):21.

4.

[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].

Yang L, Li M, Lai M, Ni J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):66-8. doi: 10.3760/cma.j.issn.1003-9406.2010.01.014. Chinese.

PMID:
20140871
5.

Diagnosis and management of laryngeal obstruction in childhood pachyonychia congenita.

Wudy SA, Lenders H, Pirsig W, Mohr W, Teller WM.

Int J Pediatr Otorhinolaryngol. 1995 Jan;31(1):109-15.

PMID:
7729988
6.

Pachyonychia congenita: a case report.

Kohli N.

Cutis. 2009 Nov;84(5):269-71.

PMID:
20099620
7.

A rare cause of upper airway obstruction in a 5-year-old girl: a laryngeal web.

Siggers BR, Ross O, Randall C, Connett G.

Paediatr Anaesth. 2003 Oct;13(8):722-4.

PMID:
14535913
8.

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
9.

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.

Zhou HL, Yang S, Gao M, Zhao XY, Zhu YG, Li W, Ren YQ, Liang YH, Du WH, Zhang XJ.

J Eur Acad Dermatol Venereol. 2007 Mar;21(3):351-5.

PMID:
17309457
10.

Acute airway obstruction.

Tran CM, Stark MW, Jeyakumar A.

JAMA Otolaryngol Head Neck Surg. 2014 Aug;140(8):775-6. doi: 10.1001/jamaoto.2014.1120. No abstract available.

PMID:
24992963
11.

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
12.

Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis.

Terrinoni A, Giardina E, Pertusi G, Cascella R, Serra V, Bornacina C, Palombo R, Tiberio R, Gattoni M, Novelli G, Annicchiarico-Petruzzelli M, Melino G, Colombo E.

Eur J Dermatol. 2014 Nov-Dec;24(6):703-4. doi: 10.1684/ejd.2014.2446. No abstract available.

PMID:
25514680
13.

A rare cause of upper airway obstruction in a 5-year-old girl: a laryngeal web.

Berry J, Johnson A.

Paediatr Anaesth. 2004 Aug;14(8):697, author reply 697. No abstract available.

PMID:
15283833
14.

Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.

Cogulu O, Onay H, Aykut A, Wilson NJ, Smith FJ, Dereli T, Ozkinay F.

Eur J Pediatr. 2009 Oct;168(10):1269-72. doi: 10.1007/s00431-008-0908-6. Epub 2008 Dec 24.

PMID:
19107515
15.

Persistent hoarseness in a patient with pachyonychia congenita: an early sign of laryngeal involvement.

Ceyhan AM, Yildirim M, Akkaya VB, Yasan H.

Int J Dermatol. 2009 Dec;48(12):1346-8. doi: 10.1111/j.1365-4632.2008.04030.x. No abstract available.

PMID:
20415676
16.

Laryngeal inflammatory pseudotumour: an unusual cause of airway obstruction.

Hanna SJ, Blenke E, Sharma R, Knight LC.

Int J Pediatr Otorhinolaryngol. 2005 Sep;69(9):1253-5. Review.

PMID:
15876459
17.

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.

Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, AvendaƱo A, Araque D, Da Silva G, Bellacchio E, Callea M.

J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e94-e96. doi: 10.1111/jdv.13800. Epub 2016 Jul 21. No abstract available.

PMID:
27445120
18.

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
19.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ.

J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24.

PMID:
17719747
20.

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

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