Introduction of Mutant GNAQ into Endothelial Cells Induces a Vascular Malformation Phenotype with Therapeutic Response to Imatinib

GNAQ is mutated in vascular and melanocytic lesions, including vascular malformations and nevi. No in vivo model of GNAQ activation in endothelial cells has previously been described. We introduce mutant GNAQ into a murine endothelial cell line, MS1. The resultant transduced cells exhibit a novel phenotype in vivo, with extensive vasoformative endothelial cells forming aberrant lumens similar to those seen in vascular malformations. ATAC-seq analysis reveals activation of c-Kit in the novel vascular malformations. We demonstrate that c-Kit is expressed in authentic human Sturge–Weber vascular malformations, indicating a novel druggable target for Sturge–Weber syndrome. Since c-Kit is targeted by the FDA-approved drug imatinib, we tested the ability of imatinib on the phenotype of the vascular malformations in vivo. Imatinib treated vascular malformations are significantly smaller and have decreased supporting stromal cells surrounding the lumen. Imatinib may be useful in the treatment of human vascular malformations that express c-Kit, including Sturge–Weber syndrome.

Coexistence of Neonatal Lupus Erythematous and Sturge–Weber Syndrome

Neonatal lupus erythematous (NLE) is a rare condition presented by lupus dermatitis shortly after birth or later following sun exposure. Sturge–Weber syndrome (SWS) is also an uncommon congenital condition characterized by extensive capillary malformation and ophthalmic and/or neurologic involvement. Here, we describe the first case of coexistence of NLE and SWS which posed a significant diagnostic challenge to clinicians.

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report

Phacomatosis pigmentovascularis (PPV) is a rare congenital disease characterized by the co-existence of cutaneous vascular malformation and pigmentary nevi with or without extracutaneous systemic involvement. Here, we present a 2-month old child diagnosed with phacomatosis cesioflammea type of PPV with Sturge-Weber syndrome and secondary congenital glaucoma of the left eye. She underwent combined trabeculotomy and trabeculectomy in the left eye for glaucoma and was started on anti-epileptics for seizure control following pediatric evaluation. Early screening and treatment initiation can prevent blindness and other systemic complications associated with PPV.

A rare case of bilateral ocular manifestations of Sturge-Weber syndrome

Sturge–Weber syndrome (SWS) is a group of phakomatoses characterized by hamartomas involving brain, skin and eyes. A 36 years old female presented with pain and diminution of vision in both eyes since last 1 year. On examination she has bluish sclera in B/L eyes with characteristic facial port-wine stain. Best corrected visual acuity (BCVA) in R/E- 6/18, N6 and in L/E- 6/6, N6. Intra-occular pressure (IOP) in R/E – 27 mm Hg and in L/E –18 mmHg. On gonioscopy – open angle B/E. On direct ophthalmoscopy and slit-lamp examination with 90 D lens, cup-disc ratio in R/E – 0.9 and in L/E – 0.7 with thinning of neuro-retinal rim in B/E. In optical coherence tomography (OCT), retinal nerve fibre layer (RNFL) and optic nerve head (ONH) it was confirmed. Other systemic examination – within normal limit. Initially, she had been on conservative treatment. As intraocular pressure remained high after several weeks of treatment, trabeculectomy in R/E done under local anaesthesia. No post-operative complications were seen. After 7 days of follow-up IOP – within normal limit, vision in R/E unchanged and had been frequently followed-up.