Genetics of Uveal Melanoma and Cutaneous Melanoma: Two of a Kind?

Cutaneous melanoma and uveal melanoma both derive from melanocytes but show remarkable differences in tumorigenesis, mode of metastatic spread, genetic alterations, and therapeutic response. In this review we discuss the differences and similarities along with the genetic research techniques available and the contribution to our current understanding of melanoma. The several chromosomal aberrations already identified prove to be very strong predictors of decreased survival in CM and UM patients. Especially in UM, where the overall risk of metastasis is high (45%), genetic research might aid clinicians in selecting high-risk patients for future systemic adjuvant therapies

Efficacy of lateral eyelid-block excision with canthoplasty and full-thickness skin grafting in lower eyelid cicatricial ectropion

Purpose: To report on the outcomes of our preferred surgical technique for the correction of lower eyelid cicatricial ectropion. Methods: We conducted a retrospective, nonrandomized, interventional analysis of a consecutive case series of patients with cicatricial lower lid ectropion treated with adhesiolysis, lateral eyelid-block excision with canthoplasty and full-thickness skin grafting. Donor sites included the ipsi- or contralateral upper eyelid and pre- or retroauricular skin. All patients were treated by one of our oculoplastic surgeons in the period from January 2005 to January 2017 in the Rotterdam Eye Hospital/Focus Clinic Rotterdam. We assessed postoperative lower eyelid apposition, the occurrence of intra- and postoperative complications and the reoperation rate. Results: We included 38 eyelids of 32 patients, of whom 17 were male and 15 were female. The minimal postoperative follow-up was 3 months. A total of 27 of 38 eyelids showed good postoperative apposition. Skin graft donor sites were the ipsi- or contralateral upper eyelid (47% and 16%, respectively) and the pre- or retroauricular skin (26% and 11%, respectively). No intraoperative complications occurred, but one patient developed a transient allergic contact dermatitis in the early postoperative phase. Two of 38 eyelids (two of 32 patients) required another surgical intervention (block excision) for residual or recurrent ectropion, with favourable outcomes. There was 100% viability of the skin grafts. Conclusion: Repair of lower eyelid ectropion with lateral block excision, canthoplasty and full-thickness skin grafting is an effective procedure with minimal donor site morbidity, excellent graft survival rates and a low reoperation rate

Accelerated growth of orbital schwannomas during pregnancy does not correlate with sex hormone- or growth factor receptor status

Purpose: Until now, three cases of growth of an orbital schwannoma during pregnancy have been published. We aim to provide additional insight in the effect of pregnancy on orbital schwannomas. Methods: We present two additional cases of accelerated growth of orbital schwannomas during pregnancy and investigate receptor expression profiles for estrogen, progesterone, androgen, VEGF, EGF, FGF, PDGF-Rβ and ki-67 in the two pregnant cases and six non-pregnant cases. Results: Case 1: A 26-year-old woman developed unilateral exophthalmos during pregnancy, with normal visual acuity and ocular motility. During a subsequent pregnancy, again the exophthalmos progressed. MRI showed a mass suggestive of schwannoma. After delivery, resection of the lesion was performed through an anterior approach. Pathology confirmed schwannoma. The expression profile was positive for estrogen- and FG

Cellular angiofibroma of the orbit

Cellular angiofibroma is a benign mesenchymal tumor most commonly located in the distal genital tract of both men and women. Although extragenital locations have been reported rarely, this is the first report of cellular angiofibroma of the orbit. A 58-year-old man presented with a mass in the left superomedial orbit since 2 years. Magnetic resonance imaging showed a well-demarcated lesion with a homogeneous intermediate signal intensity on both T1- and T2-weighted images, homogeneous contrast enhancement and high signal intensity on diffusion-weighted images. Complete excision was performed through a medial upper eyelid crease incision. Histopathology showed a vascular CD34-positive and STAT6-negative spindle cell tumor with monoallelic loss of FOXO1, indicating cellular angiofibroma

Histopathological and Molecular Features of a Conjunctival Caruncular Deep Penetrating Nevus

We describe the first presentation of a deep penetrating nevus (DPN) on the lacrimal caruncle. This lesion was seen in an 18-year-old woman presenting with hemorrhage of a long-standing pigmented mass on the caruncle. Histology showed a combined melanocytic neoplasm that consisted of two different melanocytic components. The differential diagnosis, based on histological examination, was a conventional melanocytic nevus, a Spitz nevus, or a combined melanocytic nevus. On the molecular level, one of the components revealed a mutation in the CTNNB

Understanding the clinical and molecular basis of thyroid orbitopathy:a review of recent evidence

Thyroid eye disease (TED) is an autoimmune orbital inflammatory disease which ranges from mild to severe. Tissue remodeling, fibrosis and fat proliferation cause changes in the orbital tissues which can affect esthetics and visual function. In its severe form, it is sight threatening, debilitating, and disfiguring and may lead to social stigma, the embarrassment about which has an impact on the quality of life of those affected and the family members. The pathogenesis of TED, which is influenced by genetic, immunological, and environmental factors, is complex and not fully elucidated. However, it remains unknown what factors determine the severity of the disease. Recent research has revealed a number of diagnostic and prognostic biomarkers of this disease. In this overview of TED, we focus on new insights and perspectives regarding biological agents that may provide a basis for new treatment modalities.</p

Diplopia as the First Sign of Gastric Carcinoma

Orbital metastasis may be the initial manifestation of a malignancy of unknown origin. The primary locations of orbital metastasis are usually the lung, prostate, gastrointestinal tract, skin, kidney, eye, or thyroid gland. Metastasis of gastric carcinoma to an extraocular eye muscle is extremely rare. A solitary thickening in an extraocular eye muscle with no inflammatory features is suspect for a tumor. Symptoms such as diplopia, proptosis, ptosis, vision loss, or pain may be associated with an orbital malignancy. Our patient, a 67-year-old man known with radically resected prostate cancer, presented with complaints of vertigo with a tendency to fall, headache, and diplopia when looking to the right. As a coincidental finding, swelling of the rectus lateralis muscle of the left eye was observed on imaging. Extensive additional investigations showed that a gastric carcinoma with intraorbital and leptomeningeal metastasis was the cause. In conclusion, a solitary thickened extraocular eye muscle should be recognized in time and examined further