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  • Title: Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate.
    Author: Lee IT, Nerad JA, Mawn LA.
    Journal: Ophthalmic Plast Reconstr Surg; ; 38(4):e124-e127. PubMed ID: 35353788.
    Abstract:
    A male neonate presented with an isolated congenital right orbital vascular malformation without other mucocutaneous lesions or signs/symptoms of systemic disease. The orbital mass was progressive, causing amblyogenic ptosis by 6 months of age. Over 11 years, the patient underwent 4 orbital mass resections, 3 embolizations, and even a craniotomy with mass resection for an intraorbital meningoencephalocele secondary to orbital bony erosion. A diagnosis of blue rubber bleb nevus syndrome was made at age 7 when the patient developed a tender vascular lesion on his foot and was found to have other mucocutaneous lesions of the extremities and gastrointestinal tract. This is the first pediatric case of such an aggressive orbital vascular malformation from blue rubber bleb nevus syndrome causing neonatal amblyogenic ptosis and intraorbital meningoencephalocele in childhood. It is the second report of a patient presenting with an isolated orbital vascular malformation without other manifestations of blue rubber bleb nevus syndrome, leading to his delayed diagnosis.
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