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pro vyhledávání: '"Meleda disease"'
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Publikováno v:
Journal of Evolution of Medical and Dental Sciences. 3:14224-14229
Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma characterized by transgradient keratoderma with associated scleroatrophy, knee changes and onychogryphosis. This case of a 20 year old girl born of second degree consanguineous marr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97afefd6f636797383bb9955109ca9cc
https://doi.org/10.14260/jemds/2014/3906
https://doi.org/10.14260/jemds/2014/3906
Autor:
Gennaro Melino, Alessandro Terrinoni, E. Giannella, Margherita Annicchiarico-Petruzzelli, Biagio Didona, Ramona Palombo
Background Epidermolytic ichthyosis (BCIE, OMIM 113800), is an autosomal dominant disorder of the skin caused by mutations in keratin genes KRT1 and KRT10. We present two sporadic patients showing a mild diffuse ichthyosis with palmoplantar keratoder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3856c58201b3967238ed06f574125d44
http://hdl.handle.net/2108/236831
http://hdl.handle.net/2108/236831
Peut-on traiter chirurgicalement le Mal de Meleda (kératodermie palmoplantaire diffuse de Siemens) ?
Publikováno v:
Annales de Chirurgie Plastique Esthétique. 54:152-155
Resume Introduction Le Mal de Meleda (MDM, OMIM #248300) est une keratodermie palmoplantaire congenitale rare. Des fissures profondes sont a l’origine de douleurs et de contractures dermatogeniques. Nous rapportons le cas d’un patient ayant ete o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fbb6cc263c3583b96bd0bc1edbeeaaf
https://doi.org/10.1016/j.anplas.2008.08.003
https://doi.org/10.1016/j.anplas.2008.08.003
Autor:
Richard S. Houlston, Andrew H. Crosby, T. Fenn, M. Nardelli, Aman S. Coonar, Michael A. Patton, Heema Patel
Publikováno v:
British Journal of Dermatology. 144:731-734
Background The inherited palmoplantar keratodermas (PPKs) are a clinically heterogeneous group of disorders characterized by thickening of the skin of the palms and the soles. These diseases also exhibit genetic heterogeneity and many autosomal domin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15de77be8f8bf6a72e9ec59108fe27f8
https://doi.org/10.1046/j.1365-2133.2001.04127.x
https://doi.org/10.1046/j.1365-2133.2001.04127.x
Publikováno v:
Dermatology. 193:358-361
We report 2 cases of clinically typical Meleda disease in a family from Herzegovina. Electron microscopy did not reveal major ultrastructural anomalies of keratinization; however, the transition from stratum granulosum to stratum corneum appeared to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89261b30d1a31f005de1db58a129cdb
https://doi.org/10.1159/000246295
https://doi.org/10.1159/000246295
Publikováno v:
Archives of Dermatology. 144
Background “Nagashima-type” keratosis is characterized by transgressive and nonprogressive palmoplantar keratoderma (PPK) with an autosomal recessive trait. Because its clinical manifestations are similar to but milder than those of mal de Meleda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ca50c68331256bb071cdd50499cb18
https://doi.org/10.1001/archderm.144.3.375
https://doi.org/10.1001/archderm.144.3.375
Autor:
Daniel Hohl, Fabrice Chimienti, Daniel Bertrand, Laure Plantard, Marcel Huber, Ron C. Hogg, Noureddine Brakch, Judith Fischer, Caroline Lehmann
Publikováno v:
Human Molecular Genetics, vol. 12, no. 22, pp. 3017-24
Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff8200118ecd5b4e940fd93f6f5783d
https://serval.unil.ch/resource/serval:BIB_42136D8EED7F.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_42136D8EED7F.P001/REF.pdf
Autor:
Bakar Bouadjar, Jean-François Prud'homme, Caroline Lefèvre, Ana Bakija-Konsuo, Jean Weissenbach, Judith Fischer, Mark Lathrop, Farid Ait-Belkacem, Florence Jobard, Roland Heilig, Francoise Macari, Daniel Hohl, Marcel Huber
Publikováno v:
Human Molecular Genetics, vol. 10, no. 8, pp. 875-80
ResearcherID
ResearcherID
Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail abnormalities. We report the refinement of our previousl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73fefe18e38d9e186aab97f7585474e3
https://pubmed.ncbi.nlm.nih.gov/11285253
https://pubmed.ncbi.nlm.nih.gov/11285253
Publikováno v:
Archives of dermatology. 136(10)
Background Mal de Meleda (MIM 248300), also referred to as keratosis palmoplantaris transgrediens of Siemens, is a rare autosomal recessive skin disorder with a prevalence in the general population of 1 in 100,000. The main clinical characteristics a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa28c1346c66e358787238ba032e606
https://pubmed.ncbi.nlm.nih.gov/11030771
https://pubmed.ncbi.nlm.nih.gov/11030771