The Experts below are selected from a list of 276 Experts worldwide ranked by ideXlab platform
Mary E Schwartz - One of the best experts on this subject based on the ideXlab platform.
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proteomic profiling of Pachyonychia congenita plantar callus
Journal of Proteomics, 2017Co-Authors: Robert H Rice, Mary E Schwartz, Blythe Durbinjohnson, Michelle Salemi, David M Rocke, Brett S. PhinneyAbstract:Abstract Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal. The profiles from subjects with KRT6B mutations were intermediate in protein profile differences. Degree of departure from the normal profile could be estimated by expression of numerous proteins in callus from the ball of the foot that were consistently different. By contrast, the protein profile from the arch of the foot was hardly affected. The results provide a foundation for noninvasive monitoring of the efficacy of treatments with quantitative assessment of departure from the normal phenotype. Significance Pachyonychia congenita is an orphan disease in which the connection between the basic defect (keratin mutation) and debilitating symptoms (severe plantar pain) is poorly understood. Present work addresses the degree to which the protein profile is altered in the epidermis where the severe pain originates. The results indicate that the mutated keratins differ greatly in the degree to which they elicit perturbations in protein profile. In those cases with markedly altered protein levels, monitoring the callus profile may provide an objective measure of treatment efficacy.
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Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia congenita Consortium Meeting
The British journal of dermatology, 2014Co-Authors: Edel A. O'toole, Mary E Schwartz, Roger L. Kaspar, Eli Sprecher, Laure RittiéAbstract:Summary This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. 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. funding opportunities applicable to rare skin disorders; (iv) ‘The PC Corner’, focusing on recent clinical studies related to PC; and (v) ‘Clinical Corners: Turning the Corner?’, an update on ongoing PC clinical trials.
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The molecular genetic analysis of the expanding Pachyonychia congenita case collection
The British journal of dermatology, 2014Co-Authors: Neil J Wilson, Mary E Schwartz, Leonard M. Milstone, Edel A. O'toole, Eli Sprecher, Charles Hansen, A.a. Shepherd, E. Al‐asadi, W.h.i. Mclean, Fjd SmithAbstract:Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
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Report of the 10th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2014Co-Authors: Maurice A.m. Van Steensel, Frances J D Smith, Pierre A. Coulombe, Leonard M. Milstone, Roger L. Kaspar, Eli Sprecher, I Mclean, Dennis R. Roop, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for Pachyonychia congenita, a rare keratinizing disorder. From February 14th–17th, 2013, the group convened in Park City for their tenth annual meeting. The 2013 meeting focused on how to best move forward with clinical trials and on learning from work in other scientific areas, with an emphasis on understanding mechanisms of pain and hyperkeratosis. Considerable time was spent on discussing the best way to move forward with development of new treatments and how to obtain or develop tools that can measure treatment outcomes in PC.
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Pachyonychia congenita Project: A Partnership of Patient and Medical Professional
Journal of the Dermatology Nurses’ Association, 2013Co-Authors: Mary E Schwartz, Frances J D Smith, Gail M. Zimmerman, Eli SprecherAbstract:ABSTRACT:A rare disease like Pachyonychia congenita (PC) poses barriers to the patient, medical professional, and scientist. The patient has challenges connecting to information, the medical professional has challenges connecting to patient experience, and the scientist has challenges connecting to
Frances J D Smith - One of the best experts on this subject based on the ideXlab platform.
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Management of Plantar Keratodermas Lessons from Pachyonychia congenita
Journal of the American Podiatric Medical Association, 2017Co-Authors: Rebecca M. Porter, Albert A. Bravo, Frances J D SmithAbstract:Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder Pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of Pachyonychia congenita and the function of the underlying genes.
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Report of the 13th Annual International Pachyonychia congenita Consortium Symposium.
The British journal of dermatology, 2017Co-Authors: Laure Rittié, Eli Sprecher, Roger L. Kaspar, Frances J D SmithAbstract:The International Pachyonychia congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for Pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.
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Report of the 10th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2014Co-Authors: Maurice A.m. Van Steensel, Frances J D Smith, Pierre A. Coulombe, Leonard M. Milstone, Roger L. Kaspar, Eli Sprecher, I Mclean, Dennis R. Roop, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for Pachyonychia congenita, a rare keratinizing disorder. From February 14th–17th, 2013, the group convened in Park City for their tenth annual meeting. The 2013 meeting focused on how to best move forward with clinical trials and on learning from work in other scientific areas, with an emphasis on understanding mechanisms of pain and hyperkeratosis. Considerable time was spent on discussing the best way to move forward with development of new treatments and how to obtain or develop tools that can measure treatment outcomes in PC.
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Pachyonychia congenita Project: A Partnership of Patient and Medical Professional
Journal of the Dermatology Nurses’ Association, 2013Co-Authors: Mary E Schwartz, Frances J D Smith, Gail M. Zimmerman, Eli SprecherAbstract:ABSTRACT:A rare disease like Pachyonychia congenita (PC) poses barriers to the patient, medical professional, and scientist. The patient has challenges connecting to information, the medical professional has challenges connecting to patient experience, and the scientist has challenges connecting to
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homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe Pachyonychia congenita
Journal of Investigative Dermatology, 2012Co-Authors: Neil J Wilson, Monica Cardenas L Perez, Anders Vahlquist, Mary E Schwartz, David C Hansen, W Irwin H Mclean, Frances J D SmithAbstract:Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia congenita
Maurice A.m. Van Steensel - One of the best experts on this subject based on the ideXlab platform.
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Report of the 10th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2014Co-Authors: Maurice A.m. Van Steensel, Frances J D Smith, Pierre A. Coulombe, Leonard M. Milstone, Roger L. Kaspar, Eli Sprecher, I Mclean, Dennis R. Roop, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for Pachyonychia congenita, a rare keratinizing disorder. From February 14th–17th, 2013, the group convened in Park City for their tenth annual meeting. The 2013 meeting focused on how to best move forward with clinical trials and on learning from work in other scientific areas, with an emphasis on understanding mechanisms of pain and hyperkeratosis. Considerable time was spent on discussing the best way to move forward with development of new treatments and how to obtain or develop tools that can measure treatment outcomes in PC.
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Pachyonychia congenita type 1 with skeletal abnormalities
European journal of dermatology : EJD, 2009Co-Authors: Jaap J. A. J. Van Der Velden, Maurice A.m. Van SteenselAbstract:Auteur(s) : Jaap JAJ van der Velden, Maurice AM van Steensel Department of Dermatology, Maastricht University Medical Center+, P. Debijelaan 25, 6202AZ Maastricht, the Netherlands Pachyonychia congenita (PC) is characterized by hyperkeratosis of the nail bed with thickening and distortion or curvature of the nail plate [1]. There are two types of PC: Jadassohn-Lewandowsky syndrome (PC1) and Jackson-Lawler syndrome (PC2). The PC1 phenotype is associated with mutations in KRT6A or KRT16, [...]
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Treatment of Pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings, 2005Co-Authors: Leonard M. Milstone, Amy S. Paller, Philip Fleckman, Sancy A. Leachman, Irene M. Leigh, Maurice A.m. Van Steensel, Carl SwartlingAbstract:There are currently no specific treatments for Pachyonychia congenita (PC). Available treatments generally are directed at specific manifestations of the disorder, and an effective treatment plan must recognize that different patients are more or less troubled by different manifestations of the disease. Treatment for all aspects of PC has been less than completely satisfactory. Very few studies have compared different approaches to treatment, and fewer still have given longitudinal follow-up of efficacy and patient acceptance. This review is essentially a compilation of anecdotes. It was collected from physicians' reports in the literature, from direct communication with physicians currently following patients with PC and from patients who answered a questionnaire on the Pachyonychia congenita Project web page (http://www.Pachyonychia.org/Registry.html).
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A new type of Pachyonychia congenita.
European journal of dermatology : EJD, 2001Co-Authors: Maurice A.m. Van Steensel, Fjd Smith, Peter M SteijlenAbstract:We describe two patients with an apparently unique autosomal dominant ectodermal dysplasia. Symptoms consist of thickening of all nails as seen in Pachyonychia congenita and severe generalized hypotrichosis. No other abnormalities were present. Histopathological examination of scalp skin showed a reduction in the number of hair follicles, but other abnormalities were not found. Direct sequencing of the keratins known to be associated with Pachyonychia congenita, Krt 6a, 6b, 16 and 17, failed to detect mutations. This suggests that this may be a new type of Pachyonychia caused by a mutation in a so-called hard keratin.
Eli Sprecher - One of the best experts on this subject based on the ideXlab platform.
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Report of the 13th Annual International Pachyonychia congenita Consortium Symposium.
The British journal of dermatology, 2017Co-Authors: Laure Rittié, Eli Sprecher, Roger L. Kaspar, Frances J D SmithAbstract:The International Pachyonychia congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for Pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.
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Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia congenita Consortium Meeting
The British journal of dermatology, 2014Co-Authors: Edel A. O'toole, Mary E Schwartz, Roger L. Kaspar, Eli Sprecher, Laure RittiéAbstract:Summary This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. 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. funding opportunities applicable to rare skin disorders; (iv) ‘The PC Corner’, focusing on recent clinical studies related to PC; and (v) ‘Clinical Corners: Turning the Corner?’, an update on ongoing PC clinical trials.
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The molecular genetic analysis of the expanding Pachyonychia congenita case collection
The British journal of dermatology, 2014Co-Authors: Neil J Wilson, Mary E Schwartz, Leonard M. Milstone, Edel A. O'toole, Eli Sprecher, Charles Hansen, A.a. Shepherd, E. Al‐asadi, W.h.i. Mclean, Fjd SmithAbstract:Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17.
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Report of the 10th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2014Co-Authors: Maurice A.m. Van Steensel, Frances J D Smith, Pierre A. Coulombe, Leonard M. Milstone, Roger L. Kaspar, Eli Sprecher, I Mclean, Dennis R. Roop, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for Pachyonychia congenita, a rare keratinizing disorder. From February 14th–17th, 2013, the group convened in Park City for their tenth annual meeting. The 2013 meeting focused on how to best move forward with clinical trials and on learning from work in other scientific areas, with an emphasis on understanding mechanisms of pain and hyperkeratosis. Considerable time was spent on discussing the best way to move forward with development of new treatments and how to obtain or develop tools that can measure treatment outcomes in PC.
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Best treatment practices for Pachyonychia congenita.
Journal of the European Academy of Dermatology and Venereology : JEADV, 2013Co-Authors: Ilan Goldberg, D. Fruchter, A. Meilick, M.e. Schwartz, Eli SprecherAbstract:Background Numerous therapeutic modalities have been proposed to treat the manifestations of Pachyonychia congenita (PC). While research hopes lie with molecular therapies, patients are in need of answers regarding the efficacy of conventional treatments. Aim of the study To determine patients’ experience and preferences regarding conventional treatments for PC. Methods The study population included 120 PC patients from 20 countries. The study was based on a patient survey developed by physicians and researchers from the International Pachyonychia congenita Consortium and conducted via the internet. Using an effectiveness scale of 1 to 5, the patients were asked to grade treatments for different manifestations, including keratoderma, cysts, follicular hyperkeratosis, fingernail and toenail involvement. Results Patients reported surgical treatments being most effective for cysts and mechanical treatments the most effective conventional therapeutic approach for all other investigated manifestations. The other conventional medical treatments were found to be non-effective to only slightly effective. Among patients with keratoderma, older people were more likely to report beneficial effect from mechanical treatments (P = 0.04), topical retinoids (P = 0.04) and topical steroids (P = 0.02). Likewise, females were more inclined to report filing and grinding beneficial than males (P = 0.02). Finally, carriers of KRT16 and KRT6a were more likely to benefit from keratolytics than carriers of mutations in KRT17 (P = 0.04). Conclusions None of the currently available therapeutic options for PC are ideal, although they provide some relief, with mechanical/surgical options being preferred over medical therapies. These results emphasize the need for more efficient and targeted therapies.
Roger L. Kaspar - One of the best experts on this subject based on the ideXlab platform.
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Report of the 13th Annual International Pachyonychia congenita Consortium Symposium.
The British journal of dermatology, 2017Co-Authors: Laure Rittié, Eli Sprecher, Roger L. Kaspar, Frances J D SmithAbstract:The International Pachyonychia congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for Pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.
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Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia congenita Consortium Meeting
The British journal of dermatology, 2014Co-Authors: Edel A. O'toole, Mary E Schwartz, Roger L. Kaspar, Eli Sprecher, Laure RittiéAbstract:Summary This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. 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. funding opportunities applicable to rare skin disorders; (iv) ‘The PC Corner’, focusing on recent clinical studies related to PC; and (v) ‘Clinical Corners: Turning the Corner?’, an update on ongoing PC clinical trials.
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Report of the 10th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2014Co-Authors: Maurice A.m. Van Steensel, Frances J D Smith, Pierre A. Coulombe, Leonard M. Milstone, Roger L. Kaspar, Eli Sprecher, I Mclean, Dennis R. Roop, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) was founded in 2004 in Park City, Utah, USA. Its goal is to find a cure for Pachyonychia congenita, a rare keratinizing disorder. From February 14th–17th, 2013, the group convened in Park City for their tenth annual meeting. The 2013 meeting focused on how to best move forward with clinical trials and on learning from work in other scientific areas, with an emphasis on understanding mechanisms of pain and hyperkeratosis. Considerable time was spent on discussing the best way to move forward with development of new treatments and how to obtain or develop tools that can measure treatment outcomes in PC.
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Toward a Treatment for Pachyonychia congenita: Report on the 7th Annual International Pachyonychia congenita Consortium Meeting
The Journal of investigative dermatology, 2011Co-Authors: Roger L. Kaspar, W.h. Irwin Mclean, Sancy A. Leachman, Mary E SchwartzAbstract:The International Pachyonychia congenita Consortium (IPCC) is a group of physicians and scientists who have agreed to work together to develop therapeutics for the rare skin disorder Pachyonychia congenita (PC). Each IPCC meeting is devoted to the most pressing issues related to developing PC therapeutics and to reach consensus on directions to achieve realistic goals. A list of IPCC members can be found on the organization’s website (http://www.Pachyonychia.org), and details of the oral presentations at this year’s annual meeting are listed in Supplementary Table 1 online.
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Challenges in developing therapies for rare diseases including Pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings, 2005Co-Authors: Roger L. KasparAbstract:The ability to attract sufficient resources to effectively develop therapeutics for rare diseases is a daunting task. This review summarizes existing resources for rare diseases and discusses some of the challenges and strategies associated with developing therapies for small patient populations with an emphasis on Pachyonychia congenita.
