Sturge-Weber Syndrome with Osteohypertrophy of Maxilla

Sturge-Weber syndrome is a rare nonhereditary developmental condition with neurological and skin disorder, characterized by presence of port wine stain on the face along with ocular disorders, oral manifestations and leptomeningeal angiomas. Here we present an unusual case of Sturge-Weber syndrome with osseous hypertrophy of maxilla. 1. Introduction Sturge-Weber syndrome (SWS) or encephalotrigeminal angiomatosis belongs to group of disorders collectively called as phakomatoses (“mother-spot” disease). This rare congenital neurocutaneous syndrome is characterized by unilateral facial cutaneous vascular malformations affecting the eye and skin in association with ipsilateral leptomeningeal angiomatosis [1, 2]. In 1860, Schirmer first identified this syndrome, and Sturge in 1879 described it in detail; later Frederick Parkes Weber in 1992 demonstrated intracranial calcification [1, 2]. The prevalence is 1？:？50,000 live births. It is equally affected in males and females with no racial predilection [2]. The incidence of osseous involvement in the cutaneous capillary angioma associated with SWS is unknown; however, only few cases have been reported with osseous abnormalities [3–13]. Neoplastic occurrence with vascular malformation is extremely rare but has been reported [3]. Etiology is still unclear [2]. SWS is considered sporadic without genetic abnormalities [3]. It was thought that SWS is caused by persistence of vascular plexus around the cephalic portion of the neural tube, which develops during the sixth week of I.U. life and undergoes regression during the ninth week [1]. Here we report an interesting unusual case of SWS with osseous hypertrophy of maxilla. 2. Case Report An 8-year-old female patient reported with osseous abnormalities in the oral cavity. Her history revealed reddish discoloration (port wine stain) on the face since birth and also history of enlarging right maxilla. Medical history revealed that the patient was under medication for convulsion (carbamazepine). There was no visible sign of mental retardation. Family history was noncontributory. Extraoral examination revealed, port wine stain with unilateral (right side) distribution involving forehead, eyelids, cheek, philtrum, upper lip, half of nose, neck, chest, abdomen, and hand. The lower lip and jaw were unaffected (Figure 1). Both eyes appeared normal. Blanching of port wine stains was observed on digital pressure. Figure 1: Extraoral unilateral involvement of port wine stain on face, neck, chest, abdomen, and hand. Intraoral examination of maxilla on the right side revealed