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Hans Christian Hennies - One of the best experts on this subject based on the ideXlab platform.
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Towards characterization of Palmoplantar Keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature
British Journal of Dermatology, 2005Co-Authors: M.m. Gedicke, Heiko Traupe, Björn Fischer, Sigrid Tinschert, Hans Christian HenniesAbstract:Loricrin Keratoderma is an autosomal dominant Palmoplantar Keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb Palmoplantar Keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin Keratoderma: (i) honeycomb Palmoplantar Keratoderma and (ii) diffuse ichthyosiform dermatosis. Therefore we suggest that the condition should be described clinically as 'honeycomb Palmoplantar Keratoderma with ichthyosis'. Furthermore, we have assessed the amounts of transcript of LOR using pyrosequencing. This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin Keratoderma.
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Epidermolytic Palmoplantar Keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation
Archives of Dermatological Research, 2002Co-Authors: Wolfgang Küster, André Reis, Hans Christian HenniesAbstract:In 1901, Hans Vörner observed a family with a diffuse non-transgredient Palmoplantar Keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by Vörner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that Palmoplantar Keratoderma of Vörner represents the same entity as Palmoplantar Keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.
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spectrum of dominant mutations in the desmosomal cadherin desmoglein 1 causing the skin disease striate Palmoplantar Keratoderma
European Journal of Human Genetics, 2001Co-Authors: Debbiem Hunt, Danijela Simrak, Lisa Rickman, Neilv Whittock, Robinaj Eady, Howardp Stevens, Dkeithb Armstrong, Patriciajc Doppinghepenstal, Hans Christian HenniesAbstract:Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate Palmoplantar Keratoderma
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Palmoplantar Keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster
Genomics, 1995Co-Authors: Hans Christian Hennies, Manfred Hagedorn, André ReisAbstract:Palmoplanatar Keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplanatar Keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited Palmoplantar Keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped Palmoplantar Keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Z{sub max}=5.1 at {theta}=0.00. Therefore, Palmoplantar Keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins. 23 refs., 2 figs., 2 tabs.
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Palmoplantar Keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.
Genomics, 1995Co-Authors: Hans Christian Hennies, Manfred Hagedorn, André ReisAbstract:Abstract Palmoplantar Keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of Palmoplantar Keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited Palmoplantar Keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin gene cluster on chromosome 17q and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped Palmoplantar Keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod scoreZmax= 5.1 at θ = 0.00. Therefore, Palmoplantar Keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins.
Michele Fimiani - One of the best experts on this subject based on the ideXlab platform.
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Acral malignant melanoma and striated Palmoplantar Keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?
Dermatologic Surgery, 2004Co-Authors: Pietro Rubegni, Sara Poggiali, Aldo Cuccia, Maurizio Biagioli, Michele FimianiAbstract:Background. Striated Palmoplantar Keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic Palmoplantar Keratoderma with autosomal inheritance. Unlike other Palmoplantar Keratodermas, no association with visceral or skin cancer has ever been reported. Objective. We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated Palmoplantar Keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. Methods. Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. Results. At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. Conclusion. The association between striated Palmoplantar Keratoderma and acral melanoma is discussed.
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Acral malignant melanoma and striated Palmoplantar Keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.], 2004Co-Authors: Pietro Rubegni, Sara Poggiali, Aldo Cuccia, Maurizio Biagioli, Michele FimianiAbstract:Striated Palmoplantar Keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic Palmoplantar Keratoderma with autosomal inheritance. Unlike other Palmoplantar Keratodermas, no association with visceral or skin cancer has ever been reported. We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated Palmoplantar Keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. The association between striated Palmoplantar Keratoderma and acral melanoma is discussed.
André Reis - One of the best experts on this subject based on the ideXlab platform.
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Epidermolytic Palmoplantar Keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation
Archives of Dermatological Research, 2002Co-Authors: Wolfgang Küster, André Reis, Hans Christian HenniesAbstract:In 1901, Hans Vörner observed a family with a diffuse non-transgredient Palmoplantar Keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by Vörner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that Palmoplantar Keratoderma of Vörner represents the same entity as Palmoplantar Keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.
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Palmoplantar Keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster
Genomics, 1995Co-Authors: Hans Christian Hennies, Manfred Hagedorn, André ReisAbstract:Palmoplanatar Keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplanatar Keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited Palmoplantar Keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped Palmoplantar Keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Z{sub max}=5.1 at {theta}=0.00. Therefore, Palmoplantar Keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins. 23 refs., 2 figs., 2 tabs.
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Palmoplantar Keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.
Genomics, 1995Co-Authors: Hans Christian Hennies, Manfred Hagedorn, André ReisAbstract:Abstract Palmoplantar Keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of Palmoplantar Keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited Palmoplantar Keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin gene cluster on chromosome 17q and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped Palmoplantar Keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod scoreZmax= 5.1 at θ = 0.00. Therefore, Palmoplantar Keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins.
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Localization of a locus for the striated form of Palmoplantar Keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
Human Molecular Genetics, 1995Co-Authors: Hans Christian Hennies, Dietmar Mischke, Wolfgang Küster, André ReisAbstract:: Palmoplantar Keratoderma is a frequent hereditary disorder of keratinization in humans. Various clinically, histopathologically and genetically distinct phenotypes can be diagnosed. Recently, mutations in the keratin genes have been identified in Palmoplantar Keratoderma: mutations in the keratin 9 gene causing the epidermolytic form, and mutations in the keratin 1 gene in a non-epidermolytic form. We have now investigated a family with the striated form of Palmoplantar Keratoderma (type Brunauer-Fuhs-Siemens) for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q. After excluding both type I and type II keratin genes we have mapped a locus for this form of Palmoplantar Keratoderma to chromosome 18q12 with a maximum two-point lod score of 3.3 at theta = 0.00 at D18S536. A cluster of desmosomal cadherin genes has been mapped to this region making them good candidates for this form of PPK. These findings indicate that hyperkeratosis of palms and soles is clinically as well as genetically heterogeneous.
Pietro Rubegni - One of the best experts on this subject based on the ideXlab platform.
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Acral malignant melanoma and striated Palmoplantar Keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?
Dermatologic Surgery, 2004Co-Authors: Pietro Rubegni, Sara Poggiali, Aldo Cuccia, Maurizio Biagioli, Michele FimianiAbstract:Background. Striated Palmoplantar Keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic Palmoplantar Keratoderma with autosomal inheritance. Unlike other Palmoplantar Keratodermas, no association with visceral or skin cancer has ever been reported. Objective. We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated Palmoplantar Keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. Methods. Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. Results. At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. Conclusion. The association between striated Palmoplantar Keratoderma and acral melanoma is discussed.
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Acral malignant melanoma and striated Palmoplantar Keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.], 2004Co-Authors: Pietro Rubegni, Sara Poggiali, Aldo Cuccia, Maurizio Biagioli, Michele FimianiAbstract:Striated Palmoplantar Keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic Palmoplantar Keratoderma with autosomal inheritance. Unlike other Palmoplantar Keratodermas, no association with visceral or skin cancer has ever been reported. We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated Palmoplantar Keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. The association between striated Palmoplantar Keratoderma and acral melanoma is discussed.
Povl Gamborg Nielsen - One of the best experts on this subject based on the ideXlab platform.
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Two different clinical and genetic forms of hereditary Palmoplantar Keratoderma in the northernmost county of Sweden.
Clinical genetics, 2008Co-Authors: Povl Gamborg NielsenAbstract:A follow-up study of clinical and genetic observations, made on patients with hereditary Palmoplantar Keratoderma living in the northernmost county of Sweden (Norrbotten) in 1967, was performed. Two clinical types could be distinguished, a common form with an autosomal dominant mode of inheritance, corresponding to the description of the Unna Thost variety and a severe form with evidently an autosomal recessive inheritance. One of the patients with the severe form had a mutilating Palmoplantar Keratoderma. Neither employment nor dermatophytosis influenced the severity of the hyperkeratosis in any of these two types. Occurrence of hereditary Palmoplantar Keratoderma together with other genodermatoses of dermatoses with a polygenic mode of inheritance was also found in this study.
