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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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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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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.
Éric Gagné - One of the best experts on this subject based on the ideXlab platform.
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Olmsted Syndrome—Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma
Journal of Cutaneous Medicine and Surgery: Incorporating Medical and Surgical Dermatology, 2003Co-Authors: Josee Dessureault, Yves Poulin, Marc Bourcier, Éric GagnéAbstract:Antécédents: Le syndrome d’Olmsted est un trouble congénital rare présentant une kératodermie palmoplantaire mutilante, des papules kératosiques autour des orifices naturels et autres diverses caractéristiques. Objectifs: Nous décrivons le cas d’une femme de 65 ans atteinte du syndrome d’Olmsted qui s’est compliqué en raison d’un mélanome dans la kératodermie plantaire. À notre connaissance, il s’agit du premier cas rapporté d’une telle occurrence en présence du syndrome d’Olmsted. Les cas publiés de ce trouble rare sont passés en revue. Conclusion: Une association entre des tumeurs malignes épithéliales et le syndrome d’Olmsted a déjà été rapportée, de même qu’une association entre des tumeurs malignes épithéliales et d’autres formes de kératodermie palmoplantaire. Cela peut suggérer une prédisposition à développer des cellules mélanocytaires ou squameuses en présence de ké’ratodermies congénitales. Il semble que les rétinoïdes oraux sont le traitement le plus prometteur du syndrome d’Olmsted et d’autres kératodermies symptomatiques. Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar Keratoderma, periorificial keratotic plaques, and other variable features. Objective: We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar Keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. Conclusion: An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar Keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital Keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic Keratodermas.
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Olmsted syndrome-palmoplantar and periorificial Keratodermas: association with malignant melanoma.
Journal of Cutaneous Medicine and Surgery, 2003Co-Authors: Josee Dessureault, Yves Poulin, Marc Bourcier, Éric GagnéAbstract:Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar Keratoderma, periorificial keratotic plaques, and other variable features. Objective: We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar Keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. Conclusion: An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar Keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital Keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic Keratodermas.
Joseph C. English - One of the best experts on this subject based on the ideXlab platform.
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Acquired Palmoplantar Keratoderma
American Journal of Clinical Dermatology, 2007Co-Authors: Shaily Patel, Matthew J. Zirwas, Joseph C. EnglishAbstract:Palmoplantar Keratodermas (PPKs) are a diverse entity of disorders that are characterized by abnormal thickening of the skin on the palms and soles. Traditionally they have been classified as either hereditary or acquired and are distinguished from each other on the basis of mode of inheritance, presence of transgrediens (defined as contiguous extension of hyperkeratosis beyond the palmar and/or plantar skin), co-morbidities with other symptoms, and extent of epidermal involvement, namely diffuse, focal, and punctate. As the terms hyperkeratosis and Keratoderma have been used interchangeably throughout the literature, we define acquired Keratoderma as a non-hereditary, non-frictional hyperkeratosis of the palms and/or soles that involves ≥50% of the surface of involved acral areas and that may or may not be associated with clinical and histologic inflammation. Given the numerous possible underlying causes for acquired PPKs, evaluation of patients presenting with acquired PPK can be a perplexing task. To facilitate such evaluations, this review categorizes the acquired PPKs as: Keratoderma climactericum, drug related, malnutrition associated, chemically induced, systemic disease related, malignancy associated, dermatoses related, infectious, and idiopathic. In order to avoid the possibility of overlooking an underlying etiology and to eliminate excessive testing, we present an algorithm for assessing patients presenting with acquired PPK. The first step should include a comprehensive history and a physical examination, including a complete skin examination. If findings are consistent with a hereditary Keratoderma, then a genetics consultation should be considered. Any findings suggestive of underlying conditions should be aggressively evaluated and treated. If no pertinent findings are identified after a history and a physical examination, laboratory and radiology studies should be undertaken in a systematic, logical fashion. In terms of treatment, the most successful results occur when the underlying etiology is diagnosed and treated. If no such etiology is evident, then conservative treatment options include topical keratolytics (urea, salicylic acid, lactic acid), repeated physical debridement, topical retinoids, topical psoralen plus UVA, and topical corticosteroids. Etretinate and acitretin have also shown some success as alternative treatments in recalcitrant cases.
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Acquired palmoplantar Keratoderma.
American Journal of Clinical Dermatology, 2007Co-Authors: Shaily Patel, Matthew J. Zirwas, Joseph C. EnglishAbstract:Palmoplantar Keratodermas (PPKs) are a diverse entity of disorders that are characterized by abnormal thickening of the skin on the palms and soles. Traditionally they have been classified as either hereditary or acquired and are distinguished from each other on the basis of mode of inheritance, presence of transgrediens (defined as contiguous extension of hyperkeratosis beyond the palmar and/or plantar skin), co-morbidities with other symptoms, and extent of epidermal involvement, namely diffuse, focal, and punctate. As the terms hyperkeratosis and Keratoderma have been used interchangeably throughout the literature, we define acquired Keratoderma as a non-hereditary, non-frictional hyperkeratosis of the palms and/or soles that involves ≥50% of the surface of involved acral areas and that may or may not be associated with clinical and histologic inflammation.
Fei Hao - One of the best experts on this subject based on the ideXlab platform.
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symmetrical acral Keratoderma revisited proposal for a new term pigmented carpotarsal hyperkeratosis
Journal of The European Academy of Dermatology and Venereology, 2019Co-Authors: W Chen, Zhiqiang Song, Chaochun Yang, Fei HaoAbstract:First reported from Taiwan mistakenly as acral acanthosis nigricans in 1991, pigmented carpotarsal hyperkeratosis or hyperkeratosis nigricans carpi et tarsi displays a peculiar distribution of velvety brown-grey hyperpigmented plaques symmetrically on the flexural side of the wrists and ankles and on the dorsal sides of the hands and feet. A marked epidermal hyperkeratosis with typically mild acanthosis and papillomatosis is observed in histology. Whitish maceration upon perspiration or water exposure, with exacerbation in summer but remission in winter, is common. The association with obesity, endocrine disorders, atopic dermatitis, ichthyosis or malignancy is unknown. Familial occurrence and hereditary patterns are ill-defined. There is preliminary evidence indicating a pathogenic role of missense mutation in the transcription factor 4 gene. Treatment is empirical, with good outcome with topical retinoids and keratolytic agents. Recurrence is common, and long-term prognosis is unclear. To be distinguished are acral acanthosis nigricans, palmoplantar Keratoderma of the Nagashima type, palmoplantar Keratoderma of the Bothnian type and aquagenic palmoplantar Keratoderma. Most reported cases are from Southern China and are predominantly observed in men between the ages of 20 and 40 years. The currently used term 'symmetrical acral Keratoderma' is non-specific and misleading and may lead to global unawareness, underreporting or misdiagnosis of this phenomenon. Further genetic and molecular studies are required to clarify its pathogenesis and relation to palmoplantar Keratoderma.
Josee Dessureault - One of the best experts on this subject based on the ideXlab platform.
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Olmsted Syndrome—Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma
Journal of Cutaneous Medicine and Surgery: Incorporating Medical and Surgical Dermatology, 2003Co-Authors: Josee Dessureault, Yves Poulin, Marc Bourcier, Éric GagnéAbstract:Antécédents: Le syndrome d’Olmsted est un trouble congénital rare présentant une kératodermie palmoplantaire mutilante, des papules kératosiques autour des orifices naturels et autres diverses caractéristiques. Objectifs: Nous décrivons le cas d’une femme de 65 ans atteinte du syndrome d’Olmsted qui s’est compliqué en raison d’un mélanome dans la kératodermie plantaire. À notre connaissance, il s’agit du premier cas rapporté d’une telle occurrence en présence du syndrome d’Olmsted. Les cas publiés de ce trouble rare sont passés en revue. Conclusion: Une association entre des tumeurs malignes épithéliales et le syndrome d’Olmsted a déjà été rapportée, de même qu’une association entre des tumeurs malignes épithéliales et d’autres formes de kératodermie palmoplantaire. Cela peut suggérer une prédisposition à développer des cellules mélanocytaires ou squameuses en présence de ké’ratodermies congénitales. Il semble que les rétinoïdes oraux sont le traitement le plus prometteur du syndrome d’Olmsted et d’autres kératodermies symptomatiques. Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar Keratoderma, periorificial keratotic plaques, and other variable features. Objective: We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar Keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. Conclusion: An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar Keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital Keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic Keratodermas.
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Olmsted syndrome-palmoplantar and periorificial Keratodermas: association with malignant melanoma.
Journal of Cutaneous Medicine and Surgery, 2003Co-Authors: Josee Dessureault, Yves Poulin, Marc Bourcier, Éric GagnéAbstract:Background: Olmsted syndrome is a rare congenital disorder with mutilating palmoplantar Keratoderma, periorificial keratotic plaques, and other variable features. Objective: We describe a 65-year-old woman with Olmsted syndrome complicated by the occurrence of a malignant melanoma inside the plantar Keratoderma. To our knowledge, this is the first reported case of such an occurrence in Olmsted syndrome. The published cases of this rare disorder are reviewed. Conclusion: An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar Keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital Keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic Keratodermas.
