Sturge-Weber syndrome

Abstract

Encephalotrigeminal angiomatosis (Sturge–Weber syndrome) is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face, and sometimes the skull, jaws, and oral soft tissues. A case of portwine stain with intraoral gingival hemangioma is presented. There were no other systemic manifestations. Patient reported with a complaint of localized tumor-like swelling in gums. Based on the presence of sharply demarcated vascular lesion unilaterally on the face and with ipsilateral intraoral vascular hyperplasia in the lip and gingiva, a variant of encephalotrigeminal angiomatosis was diagnosed. Ultrasound Doppler flowmetry was used to determine the blood flow. Dental management included plaque control instructions, scaling, root planning, and excision of the lesion done under general anesthesia. Close follow-up and meticulous plaque control have kept the oral condition under fairly good control.

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management

“…In gingivae, these lesions present as unilateral hyperplasia due to an increased vascular component. Other oral abnormalities reported are pyogenic granulomas, unilateral hypertrophy of the alveolus, ipsilateral premature eruption or delayed eruption of teeth and malocclusion (Figure A,B) . The differential diagnosis includes large disseminated hemangiomas and Klippel‐Trenaunay‐Weber syndrome.…”

Tumor-Like Vascular Malformations

“…Sturge-Weber syndrome (SWS, encephalofacial angiomatosis, craniofacial angiomatosis, OMIM 185300) is characterized by an intracranial vascular abnormality, leptomeningeal angiomatosis, usually involving the occipital and posterior parietal lobes, associated with facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Leptomeningeal angiomatosis can cause a derangement of superficial cortical perfusion, with laminar cortical necrosis and calcifications (Baselga 2004;Manivannan et al 2012). A variant of SWS is Shapiro Shulman syndrome, characterized by cutaneous vascular nevi, abnormal intracranial venous drainage, and hydrocephalus (Prats Viñas et al 2011).…”

Dermatologic Manifestations of Neurologic Disease

“…Sporadic malformations most commonly occur in the leptomeninges, facial capillaries, and ocular vessels. Leptomeningeal angiomatosis can present clinically as epilepsy, mental retardation, and hemiplegia [25].…”

“…At approximately age 6-7 years, skull radiographs reveal curved double outlines of the parietooccipital cortex, which is the classic tram-track calcification. Mental retardation is present in approximately 55-92% of cases [25].…”