GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%).

Triple pass laser therapy for recalcitrant facial port wine stains.

Patients with recalcitrant facial port wine stains (rfPWS) can be challenging to manage, often leaving the clinician with difficult decisions for treatment options. 'Triple therapy' consists of using three different laser wavelengths at each treatment setting. The evidence on outcomes is limited as this treatment approach has not been previously reported to the best of our knowledge.

Pulse Dye Laser Therapy Successful for Elastosis Perforans Serpiginosa.

Background: We describe a case of elastosis perforans serpiginosa and its successful management with PDL laser.

Case Presentation: A 15-year-old male presented with a history of itchy, raised, red and unsightly lesions on the back of his neck. He was diagnosed with Elastosis Perforans Serpiginosa on tissue biopsy and underwent pulse dye laser therapy over four years with excellent results.

Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare condition associated with mutations in the genes RASA1 and EPHB4. We present a challenging case of CM-AVM in a 17-month-old boy with permanent diplegia from an undiagnosed arteriovenous malformation underlying a large atypical capillary malformation over the lower thoracic spine. This case demonstrates that clinicians should have a low threshold for neuroimaging in the context of new neurologic symptoms in patients with atypical capillary malformations.

Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.

Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations.

Aims: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied.

Patients And Methods: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS.

Propranolol for infantile haemangiomas: single centre experience of 250 cases and proposed therapeutic protocol.

Objective: To assess the safety and efficacy of systemic propranolol for the treatment of complicated infantile haemangiomas.

Design: Retrospective review of case notes of paediatric patients treated with propranolol for complicated infantile haemangiomas.

Setting: Tertiary care children's hospital.