نتایج جستجو برای: mal de meleda

تعداد نتایج: 1536606  

2012
Krina B Patel

4. Bergman R, Bitterman-Deutsch O, Fartasch M, GershoniBaruch R, Friedman-Birnbaum. Mal de Meleda keratoderma with pseudoainhum. Br J Dermatol 1993;128:207-12. 5. Atherton DJ, Sutton C, Jones BM. Mutilating palmoplanter keratoderma with periorificial keratotic plaques (Olmsted’s syndrome). Br J Dermatol 1900;122:245-52. 6. Pisoh T, Bhatia A, Oberlin C. Surgical correction of pseudoainhum in Voh...

2013
Kio Park Kenji Kabashima Yoshiki Miyachi

Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings ...

Journal: :Human molecular genetics 2001
J Fischer B Bouadjar R Heilig M Huber C Lefèvre F Jobard F Macari A Bakija-Konsuo F Ait-Belkacem J Weissenbach M Lathrop D Hohl J F Prud'homme

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 previously described interval of MDM on chromosome 8qter, and the identification of mutations in affected individuals in the ARS (component B) gene, encodin...

2013
Mbarka Bchetnia Nadia Laroussi Monia Youssef Cherine Charfeddine Ahlem Sabrine Ben Brick Mohamed Samir Boubaker Mourad Mokni Sonia Abdelhak Jameleddine Zili Rym Benmously

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing ...

ژورنال: پژوهش های فلسفی 2018

L’homme beckettien représente grosso modo sur la scène de théâtre des années cinquante le spectacle de souffrance physique et de désintégration totale du sujet qui est le fait d’un trauma et d’un complexe plus profonds, celui du vide de matières scéniques et du mal fondamental qu’on traiterait d’existentiel. En d’autres termes, le mal est dans ce monde quelque chose d’inné chez l’être humain. C...

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