Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.

Background: Atrophic variant of dermatofibrosarcoma protuberans (DFSP) is a distinct form of DFSP.

Case Presentation: Here, we report the case of a 19-year-old woman with a small congenital atrophic plaque on the right precordium. The lesion remained atrophic for more than 10 years.

Clinical correlations with dermatomyositis-specific autoantibodies in adult Japanese patients with dermatomyositis: a multicenter cross-sectional study.

Objective: To clarify the association of clinical and prognostic features with dermatomyositis (DM)-specific autoantibodies (Abs) in adult Japanese patients with DM.

Design: Retrospective study.

Setting: Kanazawa University Graduate School of Medical Science Department of Dermatology and collaborating medical centers.

Human leukocyte antigen genotypes and antibody profiles associated with familial pemphigus in Japanese.

Previous population-based, genetic studies have shown that human leukocyte antigen (HLA) class II loci such as HLA-DR4 (DRB1*04) and HLA-DR14 (DRB1*14) alleles are consistently associated with the occurrence of pemphigus vulgaris (PV) in Japanese as well as other ethnic populations. Among PV-related HLA-DRB1 alleles (*0406, *1401, *1405, *1406) in Japan, HLA DRB1*1405 and DRB1*0406 were found to be associated with both PV and pemphigus foliaceus (PF) phenotypes. We report four familial cases of pemphigus in two unrelated families, together with analysis of their HLA-DR and -DQ alleles, and their antibody profiles.

Differential expression of the human alpha-enolase gene in oral epithelium and squamous cell carcinoma.

alpha-Enolase and c-myc promoter binding protein 1 are encoded by a single gene, ENO1, and are synthesized from the same transcript through alternative use of translational start sites. We have investigated the localization of ENO1 gene transcripts detected as proteins with an immunohistochemical method and also as mRNA with an in situ hybridization method on tissue sections of oral epithelium and oral squamous cell carcinoma, and demonstrated the differential distribution of the gene transcripts in normal oral epithelium and oral squamous cell carcinoma in humans. Expression of the ENO1 transcript was detectable in the region from the basal cell layers to the lower granular cell layers.

Wnt10a is involved in AER formation during chick limb development.

The apical ectodermal ridge (AER) is indispensable for vertebrate limb development and requires Wnt/beta-catenin signaling for induction and maintenance. We report identification and involvement of Wnt10a in AER formation during chick limb development. Chicken Wnt10a has 82% identity with mouse Wnt10a in the amino acid sequence.

Identification of cis-element regulating expression of the mouse Fgf10 gene during inner ear development.

Fibroblast growth factor (FGF) signaling is crucial for the induction and growth of the ear, a sensory organ that involves intimate tissue interactions. Here, we report the abnormality of Fgf10 null ear and the identification of a cis-regulatory element directing otic expression of Fgf10. In Fgf10 null inner ears, we found that the initial development of semicircular, vestibular, and cochlear divisions is roughly normal, after which there are abnormalities of semicircular canal/cristae and vestibular development.