Keratosis palmo-plantaris striata

Genomic Sequence Analysis of the Mouse Desmoglein Cluster Reveals Evidence for Six Distinct Genes: Characterization of Mouse DSG4, DSG5, and DSG6

“…Striate palmoplantar keratoderma (MIM 148700) (Siemens, 1929;El Sayed and Bazex, 1993) is an autosomal dominant genodermatosis characterized clinically by the development of linear and focal hyperkeratosis of the palms and soles during the ¢rst or second decade (Gri⁄ths et al, 1998;Armstrong et al, 1999). The majority of cases of striate palmoplantar keratoderma are due to mutations within the extracellular domain of desmoglein 1 that lead to haploinsu⁄ciency of the protein (Rickman et al, 1999;Hunt et al, 2001;Kljuic et al, 2003).…”

Pachyonychia congenita (Jadassohn-Lewandowsky Syndrome)

“…There is still some controversy about the concept of the disease and the terminology. Siemens [2] considered JLS as a keratosis multiformis, Touraine [3] labelled it as a poly keratosis, Jannasch and Wiskemann [4] proposed the term 'dyskeratosis mul tiformis idiopathica', whereas Korting [5] also accepts the term polykeratosis. In the ophthalmologic literature, it is also known as Schafer's syndrome [6].…”

Keratoderma Palmaris et Plantaris Congenitalis

“…There is a considerable variety of types of the condition, each of which is honoured with a special name-linearis, striata, punctata, diffusa, subungual, etc. However, the present case is an instance of the most common type, and the basic defect is presumably the same in all types, with the manifestations modified by unknown factors (Siemens, 1929). Siemens also notes the occasional association of the condition with other ectodermal defects.…”