Abstract
Sturge-Weber Syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by a facial port-wine stain (PWS), leptomeningeal vascular anomalies and ocular involvement, most commonly glaucoma. Bilateral SWS represents a clinically distinct and often more severe variant, frequently associated with bilateral glaucoma and complex intracranial findings. We present a commentary on a case report describing a young male in his 20s with bilateral SWS, soft tissue hypertrophy of the lower lip and trichomegaly, a triad not previously documented in the literature. The case report is noteworthy for several reasons. First, the bilateral distribution of PWS involving both ophthalmic and maxillary branches of the trigeminal nerve, confirmed by MRI brain with contrast, suggestive of a cerebellar venous anomaly and presenile atrophy, exemplifies the severe association of vascular anomaly in the SWS spectrum. Secondly, lower lip hypertrophy is a common finding in SWS with soft tissue involvement, representing a hamartomatous origin rather than a lymphovascular malformation. Third and most notably, the patient demonstrated trichomegaly, defined as eyelash overgrowth exceeding 12 mm. This finding appears to be rare or previously unreported in association with SWS. The underlying mechanism is likely multifactorial, involving port-wine stain related follicular hyperplasia of the eyelid, genetic influence, local cutaneous changes and the effects of long-term prostaglandin analogue therapy, which the patient had been receiving for glaucoma since childhood. This commentary highlights the expanding phenotypic spectrum of SWS, the importance of a systematic multidisciplinary approach, and the need for heightened clinical awareness of previously unrecognized associations such as trichomegaly in this syndrome.
Keywords
Bilateral Sturge-Weber Syndrome (SWS), Secondary glaucoma, Trichomegaly, Soft tissue hypertrophy,pathology