Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.

In the framework of the UK 100 000 Genomes Project, we investigated the genetic origin of a previously undescribed recessive dermatological condition, which we named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses), in four affected individuals from two UK families of Pakistani and Indian origins, respectively. Our analysis showed that only one gene, LTV1, carried rare biallelic variants that were shared in all affected individuals, and specifically they bore the NM_032860.5:c.

Tap water iontophoresis in the treatment of pediatric hyperhidrosis.

Aim Of The Study: The treatment options for localized hyperhidrosis include antiperspirants, anticholinergics, iontophoresis, botulinum toxin and surgery. Tap water iontophoresis (TWI) involves immersing the affected area in tap water and passing a small electrical current through the area. Our aim was to assess the success of this therapy in a pediatric cohort.

Reliability of dermoscopy in the assessment of patients with Raynaud's phenomenon.

Objective: Few rheumatologists have access to wide field or video capillaroscopy (abnormal capillaries being highly predictive of CTD), and a key question is whether they should, therefore, purchase a dermatoscope. The aim of this study was to estimate the inter- and intra-observer variability of dermoscopy (magnification 10x) among rheumatologists with little or no experience of the technique. Good reliability is a necessary prerequisite for a test to be a valid clinical or research tool.