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Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)

Subscribe to New Research on Pachyonychia Congenita

A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.

Also Known As:

Jadassohn-Lewandowsky Syndrome; Pachyonychia Congenita, Jackson-Lawler Type; Jackson-Lawler Type Pachyonychia Congenita; Pachyonychia Congenita Tarda, Type 1; Pachyonychia Congenita, Jadassohn-Lewandowsky Type; Type 1 Pachyonychia Congenita; Type 2 Pachyonychia Congenita; Congenita, Pachyonychia; Jackson Lawler Type Pachyonychia Congenita; Jadassohn Lewandowsky Syndrome; Multiplex, Steatocystoma; Multiplices, Steatocystoma; Pachyonychia Congenita, Jackson Lawler Type; Pachyonychia Congenita, Jadassohn Lewandowsky Type; Steatocystoma Multiplices; Pachyonychia Congenita Type 1; Pachyonychia Congenita, Type 1; Pachyonychia Congenita, Type 2; Steatocystoma Multiplex

Networked: 153 relevant articles (4 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
2.	Epidermal Cyst (Sebaceous Cyst)
3.	Cysts
4.	Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)
5.	Ectodermal Dysplasia (Aplasia Cutis Congenita)

Experts

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)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pachyonychia Congenita:

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."
3.	Acitretin FDA Link 05/01/1995 - "Acitretin proved useful in the treatment of this late-onset form of pachyonychia congenita." 05/01/2015 - "Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin."
4.	VitaminsIBA 09/01/2003 - "Pachyonychia congenita-like nail changes treated successfully with a combination of vitamins A and E: a case report."
5.	Adenocarcinoma of lungIBA 02/01/2014 - "We describe a 56-year-old lung adenocarcinoma patient, initially diagnosed with steatocystoma multiplex who responded well to gefitinib treatment. "
6.	gefitinib (Iressa)FDA Link 02/01/2014 - "Steatocystoma multiplex as initial impression of non-small cell lung cancer with complete response to gefitinib." 02/01/2014 - "We describe a 56-year-old lung adenocarcinoma patient, initially diagnosed with steatocystoma multiplex who responded well to gefitinib treatment. "
7.	Keratins (Keratin)IBA 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. "

Therapies and Procedures

1.	Gas Lasers 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."
2.	Electrocoagulation (Electrocautery) 04/01/1959 - "[Successful results of combined nivaquine and electrocoagulation therapy of Jadassohn-Lewandowsky syndrome]." 03/15/1959 - "[Favorable effects of a combined nivaquine & electrocoagulation treatment in a case of Jadassohn-Lewandowsky syndrome]."
3.	Semiconductor Lasers 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."
4.	Solid-State Lasers 07/01/2010 - "Er: yag laser therapy for steatocystoma multiplex."
5.	Cryotherapy (Therapy, Cold) 05/01/2000 - "Steatocystoma multiplex suppurativum: oral isotretinoin treatment combined with cryotherapy."