Nicole Knöpfel, Davide Zecchin, Hanna Richardson, Satyamaanasa Polubothu, Sara Barberan-Martin, Thomas Cullup, Karolina Gholam, Simon Heales, Steve Krywawych, Pablo López-Balboa, Noreen Muwanga-Nanyonjo, Olumide Ogunbiyi, Clinda Puvirajasinghe, Lea Solman, Katherine Swarbrick, Samira B Syed, Zubair Tahir, Martin M Tisdall, Jeremy Allgrove, Alexander D Chesover, Sarah E Aylett, Thomas S Jacques, Fadil M Hannan, Ulrike Löbel, Robert K Semple, Rajesh V Thakker, Veronica A Kinsler
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis with dermal melanocytosis (PPV-DM). The pathognomonic finding of localised "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with post-natal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. We find here that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionised calcium (41%) or high PTH (17%)...
September 29, 2023: Journal of Investigative Dermatology