Pub Date : 2005-11-01DOI: 10.1080/03658340510012507
Klaus Ejner Andersen
Chronic hand eczema is frequent among atopic dermatitis (AD) patients. Due to the multifactorial causes of hand eczema, careful clinical and allergological examination is important for classification of the individual case, and hence for advice, treatment and preventive measures to be recommended. The importance of patient information and preventive strategies cannot be overemphasized.
{"title":"Atopic hand eczema and treatment strategies.","authors":"Klaus Ejner Andersen","doi":"10.1080/03658340510012507","DOIUrl":"https://doi.org/10.1080/03658340510012507","url":null,"abstract":"Chronic hand eczema is frequent among atopic dermatitis (AD) patients. Due to the multifactorial causes of hand eczema, careful clinical and allergological examination is important for classification of the individual case, and hence for advice, treatment and preventive measures to be recommended. The importance of patient information and preventive strategies cannot be overemphasized.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 215","pages":"45-8"},"PeriodicalIF":0.0,"publicationDate":"2005-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/03658340510012507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25730420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1080/03658340310011889
Olivier Chosidow, Reinhard Dummer
The immune system’s main function is to protect the host against infection and can be divided into two main parts, innate (non-specific) and acquired (specific) immunity. Innate immunity provides the first line of defense against pathogens, and includes mechanisms already present that can be activated immediately, as in the skin and mucous membranes, e.g. the interferon alpha (IFNa) response, the cytokine response, and the neutrophil and macrophage response. In contrast, acquired immunity is specific for each pathogen and consists of humoral and cellular responses. Humoral immunity involves the production of immunoglobins (antigens) by B lymphocytes, which bind specifically to the antigen that induced them. A humoral response is initiated when an antigen activates a specific B-cell with the support of CD4 T cells. The B-cell proliferates and differentiates to form plasma cells, which then produce the antibodies with high affinity against the target antigen. Cell-mediated immunity depends on direct interactions between T-cell lymphocytes and cells primed by professional antigen presenting cells lymphocytes and cells; the cells bearing the antigen the T cells recognize in the HLA class I/II complex. A cellular response is initiated when an antigen on the surface of an abnormal cell is identified by and activates T-helper and cytotoxic T cells. Immunomodulators orchestrate the immune response, either up-regulating (immunostimulation) or down-regulating (immunosuppression) the immune response. Imiquimod belongs to the family of immunostimulators and is a novel synthetic molecule which enhances both the innate and acquired immune response, in particular the cell-mediated pathways.
{"title":"Imiquimod: mode of action and therapeutic potential.","authors":"Olivier Chosidow, Reinhard Dummer","doi":"10.1080/03658340310011889","DOIUrl":"https://doi.org/10.1080/03658340310011889","url":null,"abstract":"The immune system’s main function is to protect the host against infection and can be divided into two main parts, innate (non-specific) and acquired (specific) immunity. Innate immunity provides the first line of defense against pathogens, and includes mechanisms already present that can be activated immediately, as in the skin and mucous membranes, e.g. the interferon alpha (IFNa) response, the cytokine response, and the neutrophil and macrophage response. In contrast, acquired immunity is specific for each pathogen and consists of humoral and cellular responses. Humoral immunity involves the production of immunoglobins (antigens) by B lymphocytes, which bind specifically to the antigen that induced them. A humoral response is initiated when an antigen activates a specific B-cell with the support of CD4 T cells. The B-cell proliferates and differentiates to form plasma cells, which then produce the antibodies with high affinity against the target antigen. Cell-mediated immunity depends on direct interactions between T-cell lymphocytes and cells primed by professional antigen presenting cells lymphocytes and cells; the cells bearing the antigen the T cells recognize in the HLA class I/II complex. A cellular response is initiated when an antigen on the surface of an abnormal cell is identified by and activates T-helper and cytotoxic T cells. Immunomodulators orchestrate the immune response, either up-regulating (immunostimulation) or down-regulating (immunosuppression) the immune response. Imiquimod belongs to the family of immunostimulators and is a novel synthetic molecule which enhances both the innate and acquired immune response, in particular the cell-mediated pathways.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 214","pages":"8-11"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24066189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1080/03658340310011906
Stephen Shumack, Darrell Rigel
This article does not have an abstract.
{"title":"Treatment of non-melanoma skin cancer: immunotherapy as a viable option.","authors":"Stephen Shumack, Darrell Rigel","doi":"10.1080/03658340310011906","DOIUrl":"https://doi.org/10.1080/03658340310011906","url":null,"abstract":"This article does not have an abstract.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 214","pages":"18-22"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/03658340310011906","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24066191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1080/03658340310011898
Brian Berman, Ulrich Hengge, Simon Barton
) is a safe, effective and established treatmentfor external genital and perianal warts. It is the firstmember of the family of immune response modifiers,which stimulates innate and cell-mediated immunepathways, inducing potent antitumor, antiviral andimmunoregulatory effects (1, 2). Imiquimod stimulatesthe immune response through induction, synthesis andrelease of cytokines such as interferon (IFN) a, tumornecrosis factor (TNF) a and interleukin 12 (IL 12) (3, 4).In addition, imiquimod acts to stimulate other com-ponents of innate immunity such as natural killer cellactivity, secretion of nitric oxide from macrophages andproliferation and differentiation of B-lymphocytes (1).Imiquimod also stimulates the T-helper (Th)-1 cyto-kine, IFNc and enhances the migration of Langerhans’cells to the lymph nodes; these cells are importantantigen-presenting cells within the epidermis (5). Imi-quimod is not only a recommended treatment foranogenital warts (6–8), but has also been shown to beeffective in the treatment of other viral infections (9, 10)and epithelial neoplasms (11–13).IMIQUIMOD FOR THE TREATMENT OFEXTERNAL GENITAL WARTSHuman papillomavirus (HPV) is the most commonsexually transmitted infection in many countries. Figuresfrom the World Health Organization (WHO) and Com-municable Disease Surveillance Center (CDSC) showthat approximately 5.5 million new cases of HPV arereported every year, with 40 million cases in the UnitedStates of America (USA). In addition, 1% of sexuallyactive adults in the USA aged between 15 and 49 yearsdevelop genital warts. With a steady increase in world-wide incidence, genital warts are the most frequentlydiagnosed infection in sexually transmitted disease (STD)clinics in both the northern and southern hemispheres(14). Within the UK, HPV-associated anogenital wartsaccount for approximately 25% of total diagnoses atgenitourinary medicine (GUM) clinics (15). This increasein the epidemiology of anogenital warts is having asubstantial effect on the cost of healthcare services indeveloped countries, for instance in the UK in 2002 theestimated cost of external anogenital warts was threebillion dollars.HPV is prevalent in many different subtypes with theclinical manifestation being either anogenital or non-genital. Anogenital warts or condylomata acuminataare clinical conditions of HPV types 6 or 11. High-oncogenic risk anogenital lesions tend to arise fromHPV infections of subtypes 16, 18, 31, 33 and 35. HPVtypes 1, 2 and 3 have clinical manifestations that typifyverruca plantaris, verruca vulgaris and verruca planar,respectively (16, 17). In addition to being implicatedin many carcinomas of the skin (18), epidemiologicalstudieshaveunderlinedthatHPVsarethemainetiologicalfactor of anogenital cancer (19). Current recommendedtreatment options for genital warts are patient-appliedtherapies, which include imiquimod, or podophyllotoxin,an antimitotic agent. Alternative treatment optionsencompass physician-administered therapies, which
{"title":"Successful management of viral infections and other dermatoses with imiquimod 5% cream.","authors":"Brian Berman, Ulrich Hengge, Simon Barton","doi":"10.1080/03658340310011898","DOIUrl":"https://doi.org/10.1080/03658340310011898","url":null,"abstract":") is a safe, effective and established treatmentfor external genital and perianal warts. It is the firstmember of the family of immune response modifiers,which stimulates innate and cell-mediated immunepathways, inducing potent antitumor, antiviral andimmunoregulatory effects (1, 2). Imiquimod stimulatesthe immune response through induction, synthesis andrelease of cytokines such as interferon (IFN) a, tumornecrosis factor (TNF) a and interleukin 12 (IL 12) (3, 4).In addition, imiquimod acts to stimulate other com-ponents of innate immunity such as natural killer cellactivity, secretion of nitric oxide from macrophages andproliferation and differentiation of B-lymphocytes (1).Imiquimod also stimulates the T-helper (Th)-1 cyto-kine, IFNc and enhances the migration of Langerhans’cells to the lymph nodes; these cells are importantantigen-presenting cells within the epidermis (5). Imi-quimod is not only a recommended treatment foranogenital warts (6–8), but has also been shown to beeffective in the treatment of other viral infections (9, 10)and epithelial neoplasms (11–13).IMIQUIMOD FOR THE TREATMENT OFEXTERNAL GENITAL WARTSHuman papillomavirus (HPV) is the most commonsexually transmitted infection in many countries. Figuresfrom the World Health Organization (WHO) and Com-municable Disease Surveillance Center (CDSC) showthat approximately 5.5 million new cases of HPV arereported every year, with 40 million cases in the UnitedStates of America (USA). In addition, 1% of sexuallyactive adults in the USA aged between 15 and 49 yearsdevelop genital warts. With a steady increase in world-wide incidence, genital warts are the most frequentlydiagnosed infection in sexually transmitted disease (STD)clinics in both the northern and southern hemispheres(14). Within the UK, HPV-associated anogenital wartsaccount for approximately 25% of total diagnoses atgenitourinary medicine (GUM) clinics (15). This increasein the epidemiology of anogenital warts is having asubstantial effect on the cost of healthcare services indeveloped countries, for instance in the UK in 2002 theestimated cost of external anogenital warts was threebillion dollars.HPV is prevalent in many different subtypes with theclinical manifestation being either anogenital or non-genital. Anogenital warts or condylomata acuminataare clinical conditions of HPV types 6 or 11. High-oncogenic risk anogenital lesions tend to arise fromHPV infections of subtypes 16, 18, 31, 33 and 35. HPVtypes 1, 2 and 3 have clinical manifestations that typifyverruca plantaris, verruca vulgaris and verruca planar,respectively (16, 17). In addition to being implicatedin many carcinomas of the skin (18), epidemiologicalstudieshaveunderlinedthatHPVsarethemainetiologicalfactor of anogenital cancer (19). Current recommendedtreatment options for genital warts are patient-appliedtherapies, which include imiquimod, or podophyllotoxin,an antimitotic agent. Alternative treatment optionsencompass physician-administered therapies, which ","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 214","pages":"12-7"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/03658340310011898","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24066190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1080/03658340310011915
Richard Johnson, Eggert Stockfleth
This article does not have an abstract.
{"title":"Imiquimod 5% cream for the treatment of cutaneous lesions in immunocompromised patients.","authors":"Richard Johnson, Eggert Stockfleth","doi":"10.1080/03658340310011915","DOIUrl":"https://doi.org/10.1080/03658340310011915","url":null,"abstract":"This article does not have an abstract.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 214","pages":"23-7"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/03658340310011915","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24066192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elke Weisshaar, Michael J Kucenic, Alan B Fleischer
The history, neurophysiology, clinical aspects and treatment of pruritus are reviewed in this article. The different forms of pruritus in dermatological and systemic diseases are described, and the various aetiologies and pathophysiology of pruritus in systemic diseases are discussed. Lack of understanding of the neurophysiology and pathophysiology of pruritus has hampered the development of adequate therapies. Nevertheless, the discovery of primary afferent neurons and, presumably, second-order neurons with typical histamine responses mediating pruritic sensations can be regarded as a breakthrough in our understanding of the mechanisms behind pruritus. The number of experimental and therapeutic studies has greatly increased during the past few years, reflecting an increased interest in this topic. However, further effort is needed to develop new therapeutic concepts and clarify some confusion arising from promising case reports and uncontrolled clinical studies. A precise work-up for evaluating patients with pruritus is proposed, which may help the physician to identify the underlying causes and thus to treat the patient appropriately.
{"title":"Pruritus: a review.","authors":"Elke Weisshaar, Michael J Kucenic, Alan B Fleischer","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The history, neurophysiology, clinical aspects and treatment of pruritus are reviewed in this article. The different forms of pruritus in dermatological and systemic diseases are described, and the various aetiologies and pathophysiology of pruritus in systemic diseases are discussed. Lack of understanding of the neurophysiology and pathophysiology of pruritus has hampered the development of adequate therapies. Nevertheless, the discovery of primary afferent neurons and, presumably, second-order neurons with typical histamine responses mediating pruritic sensations can be regarded as a breakthrough in our understanding of the mechanisms behind pruritus. The number of experimental and therapeutic studies has greatly increased during the past few years, reflecting an increased interest in this topic. However, further effort is needed to develop new therapeutic concepts and clarify some confusion arising from promising case reports and uncontrolled clinical studies. A precise work-up for evaluating patients with pruritus is proposed, which may help the physician to identify the underlying causes and thus to treat the patient appropriately.</p>","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 213","pages":"5-32"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22449994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Vahlquist, A. Gånemo, M. Pigg, M. Virtanen, P. Westermark
Congenital ichthyosis comprises a rare group of usually monogenetic diseases that present at birth as a collodion phenotype or as variable degrees of ichtHyosiform erythroderma, with or without superficial blisters. Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed hyperkeratotic lesions. It is obviously important, but sometimes painstakingly difficult, to make a correct diagnosis already in infancy. Fortunately, recent advances in our understanding of the molecular genetics of ichthyosis have led to several new diagnostic tools that are continuously being updated. Based on this development, and on our own 5 years of experience in a national genodermatosis centre, we describe 127 cases of congenital ichthyosis examined in childhood or adulthood. Applying a combination of phenotypic and genotypic criteria, the patients were classified into three main groups: 1) Bullous ichthyosis (epidermolytic hyperkeratosis) and related disorders due to keratin mutations (n = 21); 2) Non-bullous ichthyosiform erythroderma and lamellar ichthyosis mainly due to transglutaminase 1 mutations (n = 80); 3) Syndromic ichthyosis, i.e. systemic (multi-organ) diseases due to many different causes (n = 26). Each group could be further stratified into 4-11 entities using mutation analysis, electron microscopy of epidermis and various other techniques. Our findings are discussed in relation to recent data in the literature emphasizing the clinical usefulness of various diagnostic procedures for ichthyosis.
{"title":"The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.","authors":"A. Vahlquist, A. Gånemo, M. Pigg, M. Virtanen, P. Westermark","doi":"10.1080/00015555-0370","DOIUrl":"https://doi.org/10.1080/00015555-0370","url":null,"abstract":"Congenital ichthyosis comprises a rare group of usually monogenetic diseases that present at birth as a collodion phenotype or as variable degrees of ichtHyosiform erythroderma, with or without superficial blisters. Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed hyperkeratotic lesions. It is obviously important, but sometimes painstakingly difficult, to make a correct diagnosis already in infancy. Fortunately, recent advances in our understanding of the molecular genetics of ichthyosis have led to several new diagnostic tools that are continuously being updated. Based on this development, and on our own 5 years of experience in a national genodermatosis centre, we describe 127 cases of congenital ichthyosis examined in childhood or adulthood. Applying a combination of phenotypic and genotypic criteria, the patients were classified into three main groups: 1) Bullous ichthyosis (epidermolytic hyperkeratosis) and related disorders due to keratin mutations (n = 21); 2) Non-bullous ichthyosiform erythroderma and lamellar ichthyosis mainly due to transglutaminase 1 mutations (n = 80); 3) Syndromic ichthyosis, i.e. systemic (multi-organ) diseases due to many different causes (n = 26). Each group could be further stratified into 4-11 entities using mutation analysis, electron microscopy of epidermis and various other techniques. Our findings are discussed in relation to recent data in the literature emphasizing the clinical usefulness of various diagnostic procedures for ichthyosis.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":"48 1","pages":"34-47"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81897455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The history, neurophysiology, clinical aspects and treatment of pruritus are reviewed in this article. The different forms of pruritus in dermatological and systemic diseases are described, and the various aetiologies and pathophysiology of pruritus in systemic diseases are discussed. Lack of understanding of the neurophysiology and pathophysiology of pruritus has hampered the development of adequate therapies. Nevertheless, the discovery of primary afferent neurons and, presumably, second-order neurons with typical histamine responses mediating pruritic sensations can be regarded as a breakthrough in our understanding of the mechanisms behind pruritus. The number of experimental and therapeutic studies has greatly increased during the past few years, reflecting an increased interest in this topic. However, further effort is needed to develop new therapeutic concepts and clarify some confusion arising from promising case reports and uncontrolled clinical studies. A precise work-up for evaluating patients with pruritus is proposed, which may help the physician to identify the underlying causes and thus to treat the patient appropriately.
{"title":"Pruritus: a review.","authors":"E. Weisshaar, M. Kucenic, A. Fleischer","doi":"10.1080/00015555-0369","DOIUrl":"https://doi.org/10.1080/00015555-0369","url":null,"abstract":"The history, neurophysiology, clinical aspects and treatment of pruritus are reviewed in this article. The different forms of pruritus in dermatological and systemic diseases are described, and the various aetiologies and pathophysiology of pruritus in systemic diseases are discussed. Lack of understanding of the neurophysiology and pathophysiology of pruritus has hampered the development of adequate therapies. Nevertheless, the discovery of primary afferent neurons and, presumably, second-order neurons with typical histamine responses mediating pruritic sensations can be regarded as a breakthrough in our understanding of the mechanisms behind pruritus. The number of experimental and therapeutic studies has greatly increased during the past few years, reflecting an increased interest in this topic. However, further effort is needed to develop new therapeutic concepts and clarify some confusion arising from promising case reports and uncontrolled clinical studies. A precise work-up for evaluating patients with pruritus is proposed, which may help the physician to identify the underlying causes and thus to treat the patient appropriately.","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":"1 1","pages":"5-32"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89299501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anders Vahlquist, Agneta Gånemo, Maritta Pigg, Marie Virtanen, Per Westermark
Congenital ichthyosis comprises a rare group of usually monogenetic diseases that present at birth as a collodion phenotype or as variable degrees of ichtHyosiform erythroderma, with or without superficial blisters. Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed hyperkeratotic lesions. It is obviously important, but sometimes painstakingly difficult, to make a correct diagnosis already in infancy. Fortunately, recent advances in our understanding of the molecular genetics of ichthyosis have led to several new diagnostic tools that are continuously being updated. Based on this development, and on our own 5 years of experience in a national genodermatosis centre, we describe 127 cases of congenital ichthyosis examined in childhood or adulthood. Applying a combination of phenotypic and genotypic criteria, the patients were classified into three main groups: 1) Bullous ichthyosis (epidermolytic hyperkeratosis) and related disorders due to keratin mutations (n = 21); 2) Non-bullous ichthyosiform erythroderma and lamellar ichthyosis mainly due to transglutaminase 1 mutations (n = 80); 3) Syndromic ichthyosis, i.e. systemic (multi-organ) diseases due to many different causes (n = 26). Each group could be further stratified into 4-11 entities using mutation analysis, electron microscopy of epidermis and various other techniques. Our findings are discussed in relation to recent data in the literature emphasizing the clinical usefulness of various diagnostic procedures for ichthyosis.
{"title":"The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.","authors":"Anders Vahlquist, Agneta Gånemo, Maritta Pigg, Marie Virtanen, Per Westermark","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Congenital ichthyosis comprises a rare group of usually monogenetic diseases that present at birth as a collodion phenotype or as variable degrees of ichtHyosiform erythroderma, with or without superficial blisters. Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed hyperkeratotic lesions. It is obviously important, but sometimes painstakingly difficult, to make a correct diagnosis already in infancy. Fortunately, recent advances in our understanding of the molecular genetics of ichthyosis have led to several new diagnostic tools that are continuously being updated. Based on this development, and on our own 5 years of experience in a national genodermatosis centre, we describe 127 cases of congenital ichthyosis examined in childhood or adulthood. Applying a combination of phenotypic and genotypic criteria, the patients were classified into three main groups: 1) Bullous ichthyosis (epidermolytic hyperkeratosis) and related disorders due to keratin mutations (n = 21); 2) Non-bullous ichthyosiform erythroderma and lamellar ichthyosis mainly due to transglutaminase 1 mutations (n = 80); 3) Syndromic ichthyosis, i.e. systemic (multi-organ) diseases due to many different causes (n = 26). Each group could be further stratified into 4-11 entities using mutation analysis, electron microscopy of epidermis and various other techniques. Our findings are discussed in relation to recent data in the literature emphasizing the clinical usefulness of various diagnostic procedures for ichthyosis.</p>","PeriodicalId":6960,"journal":{"name":"Acta dermato-venereologica. Supplementum","volume":" 213","pages":"34-47"},"PeriodicalIF":0.0,"publicationDate":"2003-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22449996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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