Usefulness of ultrasonography in the diagnosis of ischaemic fasciitis.

We present the case of a 68-year-old woman who developed a painful subcutaneous tumour in the sacral region. Histological examinations revealed a characteristic zonal pattern with a central zone of liquefactive necrosis, surrounded by proliferated atypical fibroblasts and prominent vessels, indicating ischaemic fasciitis. We demonstrate that the characteristic features of ischaemic fasciitis revealed by ultrasonography are strongly associated with those revealed by pathological findings. We thus believe that ultrasonography is a valid tool for making an accurate diagnosis of ischaemic fasciitis.

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.

The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases. They are characterized by hyperkeratosis on the palms and soles with or without extrapalmoplantar hyperkeratotic lesions. Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting from mutations in the keratin genes KRT6A, KRT6B, KRT16 or KRT17. Recently, in-frame deletion mutations of KRT6C have been identified in three families with focal PPK with slight or no nail changes. We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis. The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles. All three patients were heterozygotes for c.1414G>A in KRT6C, predicted to result in p.Glu472Lys. These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C.