Publications by authors named "Ayelet Adir-Shani"

Background: Recent cases of infants with bullous pemphigoid (BP) prompted us to explore the clinical and laboratory features of childhood BP.

Objectives: We sought to explore the characteristics of infantile BP and compare them with childhood BP.

Methods: All new consecutive cases of infantile BP referred to dermatologic departments in Israel during 2004 to 2006 were retrospectively reviewed.

View Article and Find Full Text PDF

Mutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as "laminopathies," including the segmental premature aging syndrome Hutchinson-Gilford progeria. We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.

View Article and Find Full Text PDF

Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders caused by mutations in at least 10 genes. Numerous studies, mainly performed in European and US families with EB, have revealed a number of characteristic epidemiological and genetic features, which form the basis for current diagnostic and counseling strategies. However, little is currently known about the molecular epidemiology of EB in Middle East populations.

View Article and Find Full Text PDF