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pubmed: 0001-5555
Granulocyte-colony Stimulating Factor-producing Primary Cutaneous Anaplastic Large Cell Lymphoma with Cerebral Metastasis.
Kasuya A, Hirakawa S, Hashizume H, Tokura Y Granulocyte-colony Stimulating Factor-producing Primary Cutaneous Anaplastic Large Cell Lymphoma with Cerebral Metastasis. Acta Derm Venereol. 2012 May 8; Authors: Kasuya A, Hirakawa S, Hashizume H, Tokura Y Abstract Abstract is missing (Letter). PMID: 22565644 [PubMed - as supplied by publisher]
Latest Issue of American Journal of Clinical Dermatology
Topical Antimicrobial Treatment of Acne Vulgaris: An Evidence-Based Review
Gamble, RyanDunn, JeffDawson, AnnelisePetersen, BrianMcLaughlin, LaurenSmall, AlisonKindle, ScottDellavalle, Robert P.
Archives of Dermatological Research (Browse Results)
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
Tue, 15 May 2012 18:14:30 -0000
Abstract Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is well-established, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities. Content Type Journal ArticleCategory Short CommunicationPages 1-3DOI 10.1007/s00403-012-1244-2Authors Katalin Farkas, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryNikoletta Nagy, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryÁgnes Kinyó, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryLajos Kemény, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryMárta Széll, Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary Journal Archives of Dermatological ResearchOnline ISSN 1432-069XPrint ISSN 0340-3696
BMC Dermatology - Latest Articles
The hereditary angioedema burden of illness study in Europe (HAE-BOIS- Europe): background and methodology
Anette BygumEmel Aygören-PürsünTeresa CaballeroKathleen BeusterienShadi GholizadehPatience MusingarimiSuzanne WaitHenrik Boysen Thu, 26 Apr 2012 00:00:00 -0000
Background: Hereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers. It can be life-threatening due to the risk of asphyxiation. While there have been major advancements in our understanding of the immunogenetics of HAE, there are significant gaps in the literature regarding understanding of the humanistic and economic impact of the disease, particularly in Europe. The purpose of the HAE Burden of Illness Study-Europe (HAE-BOIS-Europe), the development and methodology of which is described here, is to better understand the management and impact of HAE from the patient perspective in Europe. Methods: This is a cross-sectional study being conducted in Denmark, Germany and Spain. The study is open to patients ages 12 and older with a diagnosis of HAE-I or HAE-II. Data collection includes: (i) a survey on individuals' health care resource use, direct and indirect medical costs, impact on work and school, treatment satisfaction, and emotional functioning (via the Hospital Anxiety and Depression Scale); and (ii) one-on-one interviews to collect detailed descriptive data and patient testimonials on the impact of HAE on patients' health-related quality of life. Conclusion: The present manuscript describes the development and plans for implementing a multi-country European study with the aim of characterizing the humanistic and economic burden of HAE from the patient perspective. This study will help raise awareness of HAE as a rare but debilitating condition with wide-ranging impacts.
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Granulocyte-colony Stimulating Factor-producing Primary Cutaneous Anaplastic Large Cell Lymphoma with Cerebral Metastasis.
Kasuya A, Hirakawa S, Hashizume H, Tokura Y Granulocyte-colony Stimulating Factor-producing Primary Cutaneous Anaplastic Large Cell Lymphoma with Cerebral Metastasis. Acta Derm Venereol. 2012 May 8; Authors: Kasuya A, Hirakawa S, Hashizume H, Tokura Y Abstract Abstract is missing (Letter). PMID: 22565644 [PubMed - as supplied by publisher]
Latest Issue of American Journal of Clinical Dermatology
Topical Antimicrobial Treatment of Acne Vulgaris: An Evidence-Based Review
Gamble, RyanDunn, JeffDawson, AnnelisePetersen, BrianMcLaughlin, LaurenSmall, AlisonKindle, ScottDellavalle, Robert P.
Archives of Dermatological Research (Browse Results)
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
Tue, 15 May 2012 18:14:30 -0000
Abstract Marie Unna Hereditary Hypotrichosis 1 (MUHH1; OMIM 146550), a rare monogenic condition characterized by the development of sparse, twisted hair or complete hair loss, is the consequence of mutations located in the hairless (HR) gene. We have identified a 68-year-old Hungarian woman affected by alopecia universalis and limb deformities of all four extremities. Direct sequencing of the coding regions of the HR gene revealed a novel missense mutation in the third exon of the HR gene (c.974G/A, p.Gly325Asp). The affected family member carried the mutation in a heterozygous form, while the only available, clinically unaffected family member (the son of the patient) and the unrelated controls carried the wild type sequence. The association between the presence of HR gene mutations and the development of alopecia is well-established, however, further studies are needed to elucidate the putative role of this novel HR mutation in the development of limb deformities. Content Type Journal ArticleCategory Short CommunicationPages 1-3DOI 10.1007/s00403-012-1244-2Authors Katalin Farkas, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryNikoletta Nagy, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryÁgnes Kinyó, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryLajos Kemény, Department of Dermatology and Allergology, University of Szeged, 6 Koranyi fasor, 6720 Szeged, HungaryMárta Széll, Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, Szeged, Hungary Journal Archives of Dermatological ResearchOnline ISSN 1432-069XPrint ISSN 0340-3696
BMC Dermatology - Latest Articles
The hereditary angioedema burden of illness study in Europe (HAE-BOIS- Europe): background and methodology
Anette BygumEmel Aygören-PürsünTeresa CaballeroKathleen BeusterienShadi GholizadehPatience MusingarimiSuzanne WaitHenrik Boysen Thu, 26 Apr 2012 00:00:00 -0000
Background: Hereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers. It can be life-threatening due to the risk of asphyxiation. While there have been major advancements in our understanding of the immunogenetics of HAE, there are significant gaps in the literature regarding understanding of the humanistic and economic impact of the disease, particularly in Europe. The purpose of the HAE Burden of Illness Study-Europe (HAE-BOIS-Europe), the development and methodology of which is described here, is to better understand the management and impact of HAE from the patient perspective in Europe. Methods: This is a cross-sectional study being conducted in Denmark, Germany and Spain. The study is open to patients ages 12 and older with a diagnosis of HAE-I or HAE-II. Data collection includes: (i) a survey on individuals' health care resource use, direct and indirect medical costs, impact on work and school, treatment satisfaction, and emotional functioning (via the Hospital Anxiety and Depression Scale); and (ii) one-on-one interviews to collect detailed descriptive data and patient testimonials on the impact of HAE on patients' health-related quality of life. Conclusion: The present manuscript describes the development and plans for implementing a multi-country European study with the aim of characterizing the humanistic and economic burden of HAE from the patient perspective. This study will help raise awareness of HAE as a rare but debilitating condition with wide-ranging impacts.
Sites:
Science University (OHSU) Department of Dermatology: OHSU Dermatology Department (Oregon Health & Science University): patient information, faculty, residency program, research, department newsBaylor College of Medicine Department of Dermatology: Home page for Baylor College of Medicine, Department of Dermatology
Brigham and Womens Hospital Dermatology Department -BWH: A Boston, Massachusetts hospital, Brigham and Womens Hospital is a leader in womens health issues, patient care and medical research. BWH is consistently named at the top of the US News and World Reports hospital rankings.
Columbia University Presbyterian Hospital Department of Dermatology: Basic science research group, skin diseases and hair research and treatment centers, New York, New York.
Competence Center for Hair and Hair Diseases: Das Kompetenzzentrum für Haare und Haarerkrankungen ist an der Klinik für Dermatologie am Universitätsklinikum Charité der Humboldt-Universität zu Berlin. Wir beschäftigen uns mit schwierigen Haarerkrankungen und Problemfällen und erforschen die wissenschaftlichen Hintergründe von ausgew...
Duke University Division of Dermatology: Division of Dermatology
Emory Department of Dermatology: Faculty and staff, training and education, clinical services and research center, Atlanta, Georgia.
Harvard Medical School Department of Dermatology: The Harvard Medical School Department of Dermatology is an integral part of the Harvard-affiliated hospitals. The department's mission is to provide leadership in the field of dermatology in four key areas. The department emphasizes dermatological care, adaptation to changes in the delivery of h...
Harvard Skin Disease Research Center- HSDRC: Investigators, immunology and pilot studies, useful links as well as a description of specialized research cores.
Indiana University Department of Dermatology: Overview, faculty, residency and fellowship programs, patient referrals, staff and dermatological resources, Indianapolis, Indiana.
Johns Hopkins Department of Dermatology: Information for physicians on patient care, education, research and for patients on specialty clinics, research and department news, Baltimore, Maryland.
Mayo Clinic Department of Dermatology: Department of Dermatology, Mayo Clinic in Rochester, Minn.
Penn State Dermatology: Penn State Dermatology provides the highest quality medical and surgical care to patients with skin disease and skin disorders.
Skin Care Centre: British Columbia's Centre for dermatologic science, a partnership of the Vancouver hospital sciences centre and the university of British Columbia division of dermatology, Vancouver, Canada.
Stanford University School of Medicine Department of Dermatology: Department information, patient services, education and research,Stanford, California.
Texas Tech University Department of Dermatology: Clinic information, publications and residency program, Lubbock, Texas.
The Ronald O. Perelman Department of Dermatology at New York University: Education, research, clinical studies, faculty, seminars and conferences as well as news, New York City, New York.
Tulane University Department of Dermatology: Academic overview, faculty, clinical services, residency program, research and case of the week, New Orleans, Louisiana.
University of Arkansas for Medical Sciences: Department of Dermatology
University of Iowa Department of Dermatology: The Dept of Dermatology, Univ of Iowa College of Medicine provides the highest quality medical & surgical care to patients with skin disease. Our site provides information for patients and medical professionals about skin disorders.
University of Virginia Health System Department of Dermatology Welcome: This is the homepage for the Department of Dermatology
University of Washington Dermatology Division: University of Washington School of Medicine, Department of Medicine, Division of Dermatology, Seattle, Washington, The University of Washington Division of Dermatology identifies, trains, and sustains excellent scholars and future leaders in dermatology.
Utrecht University Medical Center Department of Dermatology: Overview of laboratory, research, and clinic, the Netherlands.
Yale University Department of Dermatology: The Department of Dermatology at Yale, one of the oldest in the country, is deeply rooted in research and is now the largest provider of specialized dermatologic care in the region. We have widely recognized strength in many clinical areas.
