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Items: 1 to 20 of 134

1.

Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.

Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H.

Acta Derm Venereol. 2015 Jan;95(1):110-1. doi: 10.2340/00015555-1832. No abstract available.

2.

Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work.

Nomura T, Moriuchi R, Takeda M, Suzuki S, Kikuchi K, Ito T, Shimizu H, Shimizu S.

J Dermatol. 2015 Sep;42(9):889-92. doi: 10.1111/1346-8138.12916. Epub 2015 Apr 28. Review.

PMID:
25919143
3.

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.

Kono M, Fukai K, Shimizu N, Nagao J, Takeichi T, Tsuruta D, Sugiura K, Akiyama M.

J Eur Acad Dermatol Venereol. 2017 Mar;31(3):e175-e176. doi: 10.1111/jdv.13906. Epub 2016 Sep 12. No abstract available.

PMID:
27510574
4.

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.

Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, Sawamura D, Sueki H.

J Dermatol Sci. 2015 May;78(2):156-8. doi: 10.1016/j.jdermsci.2015.02.004. Epub 2015 Feb 16. No abstract available.

PMID:
25771163
5.

A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.

Li M, Dai X, Cheng R, Yang L, Yao Z, Liu J.

Acta Derm Venereol. 2014 May;94(3):339-40. doi: 10.2340/00015555-1724. No abstract available.

6.

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN.

Acta Derm Venereol. 2016 May;96(4):468-72. doi: 10.2340/00015555-2304.

7.

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

Dinani N, Ali M, Liu L, McGrath J, Mellerio J.

Clin Exp Dermatol. 2017 Apr;42(3):316-319. doi: 10.1111/ced.13049. Epub 2017 Feb 27.

PMID:
28239884
8.

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.

Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ.

Br J Dermatol. 2014 Aug;171(2):433-6. doi: 10.1111/bjd.12927. Epub 2014 Aug 7. No abstract available.

9.

Type I hereditary punctate keratoderma associated with widespread lentigo simplex and successfully treated with low-dose oral acitretin.

Erkek E, Erdogan S, Tuncez F, Kurtipek GS, Bagci Y, Ozoguz P, Ozdemir S.

Arch Dermatol. 2006 Aug;142(8):1076-7. No abstract available.

PMID:
16924070
10.

Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.

Furniss M, Higgins CA, Martinez-Mir A, Horev L, Petukhova L, Stanimirović A, Miljković J, Zlotogorski A, Christiano AM.

J Invest Dermatol. 2014 Jun;134(6):1749-1752. doi: 10.1038/jid.2014.4. Epub 2014 Jan 3. No abstract available.

11.

Etretinate may work where acitretin fails.

Bleiker TO, Bourke JF, Graham-Brown RA, Hutchinson PE.

Br J Dermatol. 1997 Mar;136(3):368-70.

PMID:
9115918
13.

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Gruber R, Hennies HC, Romani N, Schmuth M.

Arch Dermatol. 2011 Jun;147(6):748-50. doi: 10.1001/archdermatol.2011.138. No abstract available.

PMID:
21690549
14.

Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques.

Mevorah B, Goldberg I, Sprecher E, Bergman R, Metzker A, Luria R, Gat A, Brenner S.

J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S266-72. Review. No abstract available.

PMID:
16227106
15.

Mutilating palmoplantar keratoderma successfully treated with etretinate.

Wereide K.

Acta Derm Venereol. 1984;64(6):566-9.

PMID:
6084939
16.

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Cui H, Gao M, Wang W, Xiao R, Chen G, Zhang Q, Fu H, Zhou Y, Guo B, Dong Y, Shen J, Zhang M, Yue Z, Liu F, Lin D, Gao T, Zhang A, Zhou W, Sun L, Yang S, Wang J, Cui Y, Zhang X.

J Invest Dermatol. 2013 Nov;133(11):2631-2634. doi: 10.1038/jid.2013.198. Epub 2013 Apr 30. No abstract available.

17.

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.

Pöhler E, Zamiri M, Harkins CP, Salas-Alanis JC, Perkins W, Smith FJD, Irwin McLean WH, Brown SJ.

J Invest Dermatol. 2013 Dec;133(12):2805-2808. doi: 10.1038/jid.2013.243. Epub 2013 Jun 6. No abstract available.

18.

[Voerner-type palmoplantar keratoderma. Treatment with etretinate].

Ortega Resinas M, Quintana del Olmo J, Yebra Sotillo I, Camacho Martinez F.

Med Cutan Ibero Lat Am. 1986;14(3):193-7. Spanish.

PMID:
2942739
19.

Striate palmoplantar keratoderma.

White KL.

Dermatol Online J. 2002 Oct;8(2):16. No abstract available.

20.

Unusual cases of Meleda keratoderma treated with aromatic retinoid etretinate.

Brambilla L, Pigatto PD, Boneschi V, Altomare GF, Finzi AF.

Dermatologica. 1984;168(6):283-6.

PMID:
6235136

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