A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encoding an alpha chain of heterotrimeric G-proteins, has initiated efforts to understand how G-proteins contribute to SWS pathogenesis. The mutation is predominantly detected in endothelial cells and is currently believed to affect downstream MAPK signalling.

[Birt-Hogg-Dubé syndrome].

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genetic disorder characterised by pulmonary cysts, fibrofolliculomas and renal tumours. The pulmonary cysts may lead to pneumothorax, and in cases of primary, spontaneous pneumothorax the syndrome should be excluded. The renal tumours are frequently malignant, but slow-growing.

The prevalence of skin disorders in Norwegian paediatric renal transplant recipients.

A few key publications report on the frequency of skin disorders in paediatric organ transplant recipients in Southern and Central Europe presenting cumulative incidences. We aimed to estimate frequencies of skin disorders both as cumulative incidences and prevalence data, and describe skin problems in paediatric renal transplant recipients in a Norwegian renal transplant population. Clinical examination and review of post-transplant skin diseases were conducted in 70 patients having performed renal transplantation before the age of 16 in the period 1983-2006.

[Vitiligo--loss of cutaneous pigmentation].

Background: Vitiligo is an acquired pigmentary skin disorder that affects 0.5-2% of the population. Many patients contact their physician and alternative therapists for help.