|1.||Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
|2.||Epidermal Cyst (Sebaceous Cyst)
|4.||Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)
|5.||Ectodermal Dysplasia (Aplasia Cutis Congenita)
|1.||Smith, Frances J D: 16 articles (07/2012 - 11/2003)|
|2.||McLean, W H Irwin: 13 articles (07/2012 - 11/2003)|
|3.||Kaspar, Roger L: 12 articles (03/2015 - 10/2006)|
|4.||Leachman, Sancy A: 10 articles (10/2012 - 12/2007)|
|5.||Hickerson, Robyn P: 9 articles (03/2015 - 10/2006)|
|6.||Milstone, Leonard M: 6 articles (03/2015 - 10/2005)|
|7.||Smith, F J D: 6 articles (12/2013 - 04/2005)|
|8.||Leake, Devin: 6 articles (05/2011 - 01/2008)|
|9.||Schwartz, Mary E: 5 articles (03/2015 - 09/2009)|
|10.||Wilson, Neil J: 5 articles (07/2012 - 12/2007)|
|1.||Keratin-6 (Keratin 6A)IBA
07/01/2015 - "A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita."
01/01/2014 - "Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b."
05/01/2011 - "Pachyonychia congenita (PC) is a keratinizing disorder predominantly caused by mutations in keratin 6a (K6a) (∼50% of cases) or K6b, K16, or K17. "
02/01/2010 - "To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I). "
02/01/2010 - "[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I]."
|2.||Small Interfering RNA (siRNA)IBA
05/01/2011 - "This suggested that the DAC microscope may have utility in assessing the clinical effects of a small interfering RNA (siRNA)-based therapeutic (TD101) that targets the causative mutation in pachyonychia congenita (PC) patients. "
05/01/2011 - "A single nucleotide-specific siRNA (K6a_513a.12, also known as TD101) was recently evaluated in a phase 1b clinical trial for the rare skin disorder, pachyonychia congenita (PC). "
05/01/2011 - "Furthermore, similar intradermal injections of small interfering RNA (siRNA; TD101) into pachyonychia congenita (PC) patient foot lesions resulted in improvement. "
01/01/2015 - "Therapeutic benefit was now demonstrated in cells from patients and animal models, and promising results of the first phase Ib clinical trial using siRNA-based allele-specific therapy were reported in Pachyonychia Congenita, an inherited skin disorder due to dominant mutations in the Keratin 6 gene. "
10/01/2006 - "SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita."
|5.||Adenocarcinoma of lungIBA
|6.||gefitinib (Iressa)FDA Link
09/01/1994 - "These findings permit testing to see if pachyonychia congenita shows any locus heterogeneity and suggest specific candidate keratin genes for mutation searching studies. "
03/01/2015 - "Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. "
11/01/2014 - "This year's meeting was divided into five corners concerning pachyonychia congenita (PC) research: (i) 'PC Pathogenesis Cornered', an overview of recent keratin research, for PC and other skin disorders; (ii) 'From All Corners of …', an outline of other genetic disorders that we can learn from; (iii) 'Fighting For Our Corner', an outline of National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Diseases programmes and U.S. "
07/01/2013 - "Dominant-negative mutations in any of the four identified keratin genes, KRT6A, KRT6B, KRT16 or KRT17, lead to pachyonychia congenita. "
10/01/2012 - "Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. "
|8.||Keratin-17 (Keratin 17)IBA
05/10/2001 - "To study the relationship between steatocystoma multiplex (SCM) and keratin 17 gene mutation. "
11/01/2013 - "A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex."
09/01/2013 - "Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2."
01/01/2013 - "A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2."
12/01/2012 - "Steatocystoma multiplex: keratin 17 - the key player?"
|9.||Keratin-16 (Keratin 16)IBA
05/01/2001 - "Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16."
10/01/1999 - "Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1."
06/01/2000 - "Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma."
11/01/2011 - "A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma."
12/01/1999 - "Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1."
|10.||DNA (Deoxyribonucleic Acid)IBA
12/01/2001 - "This study establishes useful diagnostic criteria for pachyonychia congenita types 1 and 2, which will help limit unnecessary DNA analysis in the diagnosis and management of this genetically heterogeneous group of genodermatoses."
11/10/2003 - "To detect the keratin 17 gene mutation in a Chinese pedigree of typical delayed-onset pachyonychia congenita type II (PC-II) and to explore the relationship between the genetic mutation and the phenotype of PC-II. The DNA was extracted from the blood samples of 19 patients with PC-II in four generations in the pedigree, 1 unaffected member of the pedigree, and 50 un-related normal persons. "
06/01/2014 - "Carbon dioxide laser perforation and extirpation of steatocystoma multiplex."
04/01/2003 - "We consider CO2 laser therapy to be an ideal technique for the treatment of steatocystoma multiplex, especially when the lesions are localized in aesthetically important areas."
04/01/2003 - "CO2 laser therapy in a case of steatocystoma multiplex with prominent nodules on the face and neck."
01/01/1991 - "CO2 laser therapy for steatocystoma multiplex."
07/01/2012 - "1,450-nm diode laser in combination with the 1550-nm fractionated erbium-doped fiber laser for the treatment of steatocystoma multiplex: a case report."
07/01/2012 - "Herein, we present the case of a patient with isolated steatocystoma multiplex on the abdomen and lower chest with substantial clearance after two laser treatment sessions using two complementary lasers: a 1,450-nm diode laser to target the abnormal sebaceous glands and a 1,550-nm fractionated erbium-doped fiber laser to target the dermal cysts."
07/01/2010 - "Er: yag laser therapy for steatocystoma multiplex."
|5.||Cryotherapy (Therapy, Cold)