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.

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

ObjectiveTo describe the findings of histopathology and genotyping studies in affected brain tissue from an individual with phacomatosis pigmentovascularis (PPV).MethodsA retrospective chart review of a 2-year 10-month-old male with a clinical diagnosis of PPV cesiomarmorata (or type V) was performed. Clinical features, brain imaging and histopathology findings, and genotyping studies in his affected brain tissue are summarized.ResultsThe proband had a clinically severe neurologic phenotype characterized by global developmental delay, generalized hypotonia, and recurrent episodes of cardiac asystole in the setting of status epilepticus. A somatic pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys) was detected in his skin tissue but not in blood (previously published). He underwent an urgent left posterior quadrantectomy for his life-threatening seizures. Histopathology of resected brain tissue showed an increase in leptomeningeal melanocytes and abnormal vasculature, and the exact pathogenic variant in GNA11 (c.547C>T, p.Arg183Cys), previously isolated from his skin tissue but not blood, was detected in his resected brain tissue.ConclusionsThe finding of this variant in affected skin and brain tissue of our patient with PPV supports a unifying genetic diagnosis of his neurocutaneous features.