Ectodermal dysplasia/skin fragility syndrome is a recently described autosomal recessive disease affecting skin, nails, and hair (MIM 604536), that results from mutations in plakophilin 1, a structural component of desmosomes. We report a new plakophilin 1 mutation in an affected patient as well as detailing the intron-exon organization of the gene to facilitate future polymerase chain reaction-based mutation screening. Using polymerase chain reaction amplification of genomic DNA, we identified 15 exons spanning approximately 50 kb. Direct sequencing disclosed several nonpathogenic intragenic polymorphisms, as well as a homozygous splice site mutation (1233-2 A-->T; GenBank Z73678) in a 17 y old affected male. The clinical features comprised skin erosions, dystrophic nails, sparse hair, and painful thickening and cracking of palms and soles. Skin biopsy showed negative immunolabeling with an anti-plakophilin 1 antibody and small desmosomes. These results expand the database of plakophilin 1 mutations and demonstrate the importance of this protein in the stabilization of desmosomal adhesion in terminally differentiating keratinocytes.
We report a 53-year-old woman who presented with multiple painful red cutaneous papules that had been growing slowly for 13 years. Histopathology showed typical features of neuroma. Biological, morphological and genetic investigations were negative and excluded the diagnosis of multiple endocrine neoplasia type 2b. After reviewing the literature, we concluded that our patient has an extremely unusual acquired disease, which must be considered as a distinct entity in the spectrum of cutaneous neurological disorders.
Odd numbers can be indexed by the map k(n)=(n-3)⁄2,n∈2N+3. We first propose a basic primality test using this index function that was first introduced in [8]. Input size of operations is reduced which improves computational time by a constant. We then apply similar techniques to Atkin’s prime-numbers sieve which uses modulus operations and finally to Pritchard’s wheel sieve, in both case yielding similar results.
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