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Your search keyword '"Arbeille B"' showing total 3 results
Start Over Author "Arbeille B" Topic keratosis
3 results on '"Arbeille B"'

1. [Disseminated spiked hyperkeratosis].

Author

Vaillant L, de Muret A, Arbeille B, Morere JP, Muller C, and Lorette G

Subjects
Adult, Humans, Keratolytic Agents therapeutic use, Keratosis drug therapy, Male, Microscopy, Electron, Keratins metabolism, Keratosis pathology
Published
1991

2. [X-linked chondrodysplasia punctata: neonatal manifestations].

Author

Lorette G, Vaillant L, Grangeponte MC, Arbeille B, Gold F, and Moraine C

Subjects
Chondrodysplasia Punctata congenital, Female, Genetic Linkage, Humans, Infant, Newborn, Keratosis congenital, Keratosis pathology, Chondrodysplasia Punctata genetics, Keratosis genetics, X Chromosome
Published
1991

3. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.

Author

Martin, L., Toutain, A., Guillen, C., Haftek, M., Machet, M.C., Toledano, C., Arbeille, B., Lorette, G., Rötig, A., and Vaillant, L.

Subjects
KERATOSIS, MITOCHONDRIAL DNA, KERATINOCYTES
Abstract

We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratins, fillagrin, cornified envelope proteins, intercellular junction proteins including connexin 26, and loricrin) defined with immunolabelling was normal in the proband. The combination was shown to be associated with the A7445G point mutation in the mitochondrial genome (mtDNA). This mutation is responsible for a subtype of NEPPK which is so far the only mtDNA mutation-associated keratoderma. [ABSTRACT FROM AUTHOR]

Published
2000
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