Congenital arhinia-microphthalmos syndrome or BOSMA syndrome is an exceptionally rare clinical syndrome characterized by unilateral or bilateral complete absence of the nasal cavity associated with several craniofacial, ocular, and systemic anomalies. Lacrimal drainage anomalies are secondary to absent nasolacrimal duct and usually present as dilated lacrimal sac or mucoceles. While navigation-guided dacryocystorhinostomies into the contralateral nasal cavity are described for unilateral arhinia, the way forward for the complete absence of the nose and nasal cavity is still unclear. A multidisciplinary team from the specialties of genetics, plastic surgery, ophthalmic plastics and reconstructive surgery, otorhinolaryngology, and endocrinology should get involved very early on for better continuity of care.
A 59-year-old male patient who suffered from a systemically metastasized, large extrascleral uveal melanoma recurrence of the left eye presented with active hemorrhage from the tumor. He had undergone proton beam irradiation for an epithelioid ciliary body melanoma 4 years before presentation and was lost to follow-up. Magnetic resonance angiography showed vascularization of the lesion via the ophthalmic and maxillary artery. Selective transarterial embolization of the tumor was conducted with polyvinyl alcohol microparticles followed by coiling of the supplying arteries. The bleeding stopped after 2 days and the tumor started to become necrotic. As tumor removal was the primary wish of the patient at this point in time, exenteration was carried out a week later without significant blood loss, intraoperative or postoperative complications. Socket healing was adequate, and the patient reported improved quality of life. He refused systemic palliative treatment and died 3 months after the intervention.
Melanoma , Uveal Neoplasms , Ciliary Body/surgery , Hemorrhage , Humans , Male , Melanoma/therapy , Middle Aged , Quality of Life , Uveal Neoplasms/diagnosis , Uveal Neoplasms/therapy
