Anatomic Features of Head and Neck Keratinocyte Cancer in Virginia.

BACKGROUND: Keratinocyte cancer (KC) patients benefit from early diagnosis. We describe here the anatomy of head/neck KCs to help guide screening efforts. OBJECTIVE: To examine lesion frequency and anatomic distribution of head and neck KC. METHODS: This retrospective cohort study of 4,770 consecutive pathology reports, 1998 to 2015, analyzes 5,463 head and neck KCs (3,664 basal cell carcinoma [BCC], 1,259 squamous cell carcinoma [SCC], and 540 SCC in situ) from 3,581 patients. RESULTS: Basal cell carcinoma relative tumor density (RTD) was highest on the nose; SCC RTD was highest on the cheek. Basal cell carcinoma-to-SCC ratio was highest on eyelid and lowest on scalp. Temple, ear, and neck SCC predominated in men; nose and cheek SCC in women. Scalp, temple, and ear BCC showed male predominance, while cheek, nose, and chin predominated in women. Left-sided ear SCC in situ and BCC were more common than right-sided ear lesions. CONCLUSION: This study demonstrates gender- and laterality-specific differences that comport with patterns of solar exposure.

Modified second stage Hughes tarsoconjunctival reconstruction for lower eyelid defects.

To describe a novel technique utilizing an amniotic membrane graft (AMT) to create the mucocutaneous portion of the lower eyelid margin in a modified Hughes eyelid reconstruction for secondary revision or prevention of a hyperemic, hypertrophic conjunctival margin with excessive discharge. This was a retrospective, non-comparative interventional study. Thirty consecutive patients who underwent a modified Hughes reconstruction were included. The first step of the reconstruction was performed in a standard fashion using a tarsoconjunctival flap from the ipsilateral upper eyelid. The second stage was accomplished by the division of the tarsoconjunctival flap. The modification of the procedure included the addition of AMT (Ambio 5®, IOP Ophthalmics, CA) to the new mucocutaneous junction. Main outcome measures included the post Mohs surgery defect size, post-reconstruction complications. One patient received AMT for a revision of a hyperemic lid margin following reconstruction, while 29 subsequent patients received AMT as a primary procedure. The mean size of the post-Mohs defect was 23.75 ± 6.6 mm2 horizontally and 9.1 ± 5.4 mm2 vertically, involving 79.53 ± 16.8% of the lower eyelid. There was no evidence of hyperemic or hypertrophic margin at a mean follow-up of 4.41 ± 2.91 months. The addition of an AMT for the revision, or as a primary procedure for prevention of a hyperemic, hypertrophic eyelid margin with excess mucus production in the post-Hughes lower eyelid reconstruction has favorable outcomes in this preliminary study, however warrants further investigation with larger number of patients and longer follow-up.

Orbital mantle cell lymphoma presenting as myasthenia gravis.

A 69-year-old man, previously treated with pyridostigmine for myasthenia gravis (manifesting as ptosis and diplopia) was evaluated for several concomitant bilateral anterior orbital masses. Imaging revealed 3 discrete, solid masses within and around the orbits. An incisional biopsy demonstrated atypical lymphocytes positive for CD20 and Cyclin-D1, consistent with mantle cell lymphoma. The patient received induction chemotherapy with a rituximab-based regimen. He experienced resolution of his diplopia and ptosis after one cycle of chemotherapy and achieved complete remission of the orbital masses and myasthenia symptoms after 6 cycles. Myasthenia gravis is most commonly associated with thymoma, but may also be observed with other malignancies. Recognition that orbital lymphoma may coexist with myasthenia gravis will help in expediting the diagnosis of future cases and in guiding treatment decisions.

Anophthalmic syndrome: a review of management.

PURPOSE: To review and summarize current management of anophthalmic syndrome-enophthalmos, superior sulcus syndrome, lower eyelid laxity, and upper eyelid ptosis. METHODS: The authors performed a PubMed search of all articles published in English on the management of anophthalmic socket syndrome. RESULTS: A review of 37 articles demonstrated that anophthalmic syndrome occurs in a significant proportion of this patient population. Primary prevention through careful selection of primary orbital implant is ideal. Residual mild deficits can then be corrected through prosthesis modification. When modification of the prosthesis is no longer sufficient, specifically targeted procedures become necessary. CONCLUSIONS: Ocularists and oculoplastic surgeons should work together closely to treat anophthalmic syndrome. Future studies should establish uniform measurement criteria as the next step in validating the benefit and limitation of each technique.

Pediatric anophthalmic sockets and orbital implants: outcomes with polymer-coated implants.

PURPOSE: To compare wrapped and polymer-coated hydroxyapatite implants in children undergoing primary enucleation with no adjuvant therapies. DESIGN: Retrospective, interventional cohort study. PARTICIPANTS: All children undergoing primary enucleation without adjuvant therapies between 1999 and 2009 at a tertiary pediatric cancer hospital. METHODS: Review and analysis of patient records. MAIN OUTCOME MEASURES: Implant exposure, extrusion and migration, socket contracture, and formation of pyogenic granuloma. RESULTS: Sixty consecutive patients undergoing primary enucleation with no adjuvant chemotherapy or radiation with follow-up of at least 12 months were included. Retinoblastoma was the diagnosis in 59 eyes (98.3%). Median follow-up was 3.6 years (range, 1.0-9.3 years). Two implant sizes were used: 20 mm in 47 patients (78.3%) and 18 mm in 13 patients (21.7%). Overall, 52 patients (86.7%) had an event-free recovery. Polymer-coated hydroxyapatite implants (43/60, 71.7%), when compared with wrapped ones (17/60, 28.3%), had a trend toward greater event-free recovery (odds ratio [OR], 1.6; 95% confidence interval [CI], 0.3-7.7) and lower exposure rate (OR, 2.1; 95% CI, 0.4-10.5). CONCLUSIONS: The use of polymer-coated hydroxyapatite implants is associated with favorable outcomes in the pediatric population. Despite observed complications, long-term implant retention is possible in most children. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

IBRUTINIB FOR CONTROL OF CHOROIDAL AND ORBITAL METASTASIS FROM CHRONIC LYMPHOCYTIC LEUKEMIA.

PURPOSE: To describe a case of choroidal and orbital metastasis of chronic lymphocytic leukemia controlled with ibrutinib monotherapy, an oral tyrosine kinase inhibitor. METHODS: Single case report. RESULTS: A 69-year-old man with a past medical history of chronic lymphocytic leukemia diagnosed 1 year previously was referred with a foveal lesion in the right eye and was found to have hyperopic shift in the right eye. Optical coherence tomography demonstrated choroidal infiltration in the right eye, and computed tomography of the orbits demonstrated a left orbital mass. Biopsy of the left orbital mass confirmed chronic lymphocytic leukemia/small lymphocytic leukemia. Oral ibrutinib monotherapy of 140 mg three times daily was initiated for treatment of these choroidal and orbital metastases, and at 6 months, there was clinical resolution of disease. Cessation of ibrutinib monotherapy was followed 7 months later by recurrence of choroidal disease. Reinitiation of ibrutinib monotherapy 140 mg three times daily led again to clinical disease resolution, and durable remission has been attained on a well-tolerated low maintenance dose of ibrutinib 140 mg two times daily. CONCLUSION: This is the first reported case of control of choroidal and orbital metastasis of chronic lymphocytic leukemia with ibrutinib monotherapy, confirmed with choroidal recurrence on drug cessation and clinical resolution of disease on re-treatment.

Desmoplastic trichoepithelioma: report of a unique periocular case.

In a 58-year-old woman with blepharospasm, a slowly enlarging left inferomedial eyelid lesion developed. It measured 3 × 5 mm and was nonulcerated, well-circumscribed, whitish, upraised, and firm. An initial incomplete excision followed by a total repeated excision revealed small squamous microcysts, often exhibiting calcifications and cords of nonclefting basaloid cells embedded in a scirrhous stroma characteristic of desmoplastic trichoepithelioma (DTE). Immunohistochemical investigations disclosed CD34-positive stromal fibroblasts and many CK20-positive Merkel cells located among the epithelial cells, features absent in mimicking sclerosing basal cell carcinoma (BCC). The tumor has not recurred during 6 months of follow up. Besides BCC, the differential diagnosis chiefly concerns syringoma and microcystic adnexal carcinoma. Surgical therapy should aim at complete excision but does not have to be as extensive or aggressive as that used for morpheic or sclerosing BCC because of its lack of diffusely infiltrating margins.

Effects of teprotumumab on patients with long-standing, active thyroid eye disease.

Purpose: Describe five cases of long-standing, active thyroid eye disease that responded to treatment with teprotumumab. Observations: Five patients with a greater than 9-month-history of thyroid eye disease, including two patients who had previously failed orbital radiotherapy, received eight doses of teprotumumab. All five patients, including those with a history of orbital radiotherapy, achieved a proptosis reduction of at least 2 mm in each eye as well as a Clinical Activity Score reduction of at least 2 points. In addition, all cases of diplopia improved and all but one case of lagophthalmos improved. Conclusions and Importance: Teprotumumab may be a safe and efficacious therapy for active thyroid eye disease that is of longer duration than previously studied in clinical trials, as well as disease refractory to orbital radiotherapy. In addition to robust improvement in proptosis and Clinical Activity Score, data from this series suggests diplopia and lagophthalmos may also respond to teprotumumab. Further study of teprotumumab is needed, but in the meantime these results may encourage providers to consider teprotumumab for their patients with long-standing or previously treated disease.

ENDURAGen graft durability in α-Gal disease.

Purpose: We present a case of eyelid reconstruction using ENDURAGen, a porcine-derived acellular collagen graft, complicated by dissolution of the graft in a patient recently diagnosed with α-Gal disease. Observations: A 33-year-old female status post enucleation of the left eye at age 7 struggling with malposition of her prosthesis due to lower lid retraction and laxity underwent eyelid reconstruction with ENDURAGen. She did well post-operatively for 9 months, but then began having issues with prosthesis dislodgement and rotation. Around that time, the patient was diagnosed with α-Gal disease. Repeat eyelid reconstruction was performed, this time with an ear cartilage graft, and dissolution of the original ENDURAGen graft was confirmed. Conclusions and importance: This case highlights the need for evaluation of the durability of ENDURAGen in patients with α-Gal and for caution in choosing porcine or bovine-derived implants for tissue reconstruction in this population.

The effect of cancer therapies on pediatric anophthalmic sockets.

PURPOSE: To determine the impact of chemotherapy or external beam radiotherapy (EBRT) on pediatric anophthalmic sockets. DESIGN: A retrospective, nonrandomized, interventional cohort study. PARTICIPANTS: A total of 135 sockets of 133 children undergoing enucleation from late 1999 to early 2009 at the St. Jude Children's Research Hospital were included. METHODS: A retrospective chart review of outcomes after enucleation in patients treated with systemic chemotherapy or orbital EBRT either before or after removal of the eye compared with patients who received no other treatment. MAIN OUTCOME MEASURES: Incidence of implant exposure, migration, extrusion, socket contracture, and pyogenic granuloma formation. RESULTS: Retinoblastoma was the primary diagnosis in 128 eyes (95%). Median follow-up was 3.6 years (range, 0.1-9.3 years). Event-free course was observed in 94 sockets (69.6%). Complications included implant exposure (n = 28, 20.7%), socket contracture (n = 16, 11.9%), pyogenic granuloma (n = 9, 6.7%), implant extrusion (n = 3, 2.2%), and migration (n = 2, 1.5%). Exposure resolved in 21 sockets (77.8%) and improved in 2 sockets (11.1%); 1 patient with exposure died. Use of prior, adjuvant, or subsequent chemotherapy increased the long-term risk of exposure (odds ratio [OR] = 3.7; 95% confidence interval [CI], 1.4-9.4), and contracture (OR could not be calculated, P<0.0001). External beam radiotherapy greatly increased the risk of contracture (OR 24.0; 95% CI, 6.9-82.8) and exposure (OR 2.89; 95% CI, 1.1-7.9). CONCLUSIONS: In this unique pediatric population with cancer, chemotherapy and EBRT had an additive effect, significantly increasing the incidence of exposure and socket contracture. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Focal blue nevus of the eyelid margin (mucocutaneous junction): a report of a unique case with a review of the literature.

PURPOSE: To describe the first isolated and focal benign blue nevus of the eyelid margin. METHODS: Review of clinical, histopathologic, and immunohistochemical characteristics and relevant literature. RESULTS: A 93-year-old Caucasian woman with a flat, irregular, and deeply pigmented black growth of the left upper eyelid margin of unknown duration underwent a full-thickness eyelid excisional biopsy. Microscopically, a population of loosely aggregated, mitotically inactive, heavily pigmented oval-to-elongated spindle dermal cells that paralleled the epithelium was seen. MART-1 and HMB-45 immunostaining of premelanosomes could not distinguish between melanocytes and melanophages. The more specific microphthalmia-associated transcription factor stained the nuclei of the subepithelial melanocytes before and after bleaching of the cytoplasmic melanin. The patient did not have Carney complex. No residual pigmentation or lesional recurrence has been noted during 6 months of follow up. CONCLUSIONS: A blue nevus of the preorbicularis eyelid skin is extremely rare, and still more uncommon is such a lesion of the eyelid margin. Careful microscopic and immunohistochemical evaluation is necessary to establish the proper diagnosis. Wide local excision should be performed due to concern about a more common and serious melanomatous nodule. A differential diagnosis of other pigmented lesions in this location is offered.

Pythium insidiosum: A Rare Necrotizing Orbital and Facial Infection.

Pythium insidiosum, also known as "swamp cancer," has been long known for its destructive effects on plants and animals. Infections with this fungus-like organism typically occur in temperate, tropical, and subtropical regions [ 1]. Human infection with P insidiosum, although exceedingly rare, is characterized by invasion of the cornea, cutaneous, subcutaneous, and orbital tissues with eosinophilic, tumor-like masses demonstrating arterial tropism [ 1, 2]. In most cases, patients have a history of recent exposure to wet environments [ 1]. If left untreated, P insidiosum is fatal, because it is an angioinvasive organism that leads to thrombosis and tissue ischemia. Reports of most human cases are from Thailand, with only 4 well documented orbital cases to date in the United States and Australia [ 1, 3, 4].

Clinicopathologic and immunohistochemical features of pigmented Basal cell carcinomas of the eyelids.

PURPOSE: To describe the clinical and microscopic features of pigmented basal cell carcinomas (pBCC) of the eyelid. DESIGN: Retrospective observational case series collected at one institution. METHODS: An analysis of clinical records, photographs, and histopathologic characteristics of 257 BCCs with a review of the literature. The frequencies of clinically pigmented, and of microscopically pigmented but clinically nonpigmented, BCCs were determined. Cytochemical stains (Fontana-Masson, Prussian blue) and immunohistochemical probes (S-100, microphthalmia-associated transcription factor [MiTF], HMB-45, MART-1, CK20, synaptophysin, chromogranin, CD1a, Ki-67) were then employed and the findings correlated with the degree of clinical pigmentation. RESULTS: Histopathologically, 13 of 257 cases (5.06%) were found to have pigment; of these 13, 6 (all white patients) had clinically apparent pigmentation (2.33%), either focal or diffuse. Eight of 13 lesions developed on the lower eyelids. All stained positively for melanin but negatively for iron. MiTF highlighted numerous melanocytic nuclei in the tumor lobules, while MART-1 and HMB-45 revealed the dendritic shapes of the entrapped melanocytes. There was a subtotal blockage of melanin transfer to the surrounding basaloid cells. Intralobular S-100-positive cells included CD1a-positive Langerhans cells, while CK20 did not identify any Merkel cells. CONCLUSIONS: Only 1 of 6 lesions was uniformly clinically pigmented, whereas the other 5 were only focally brown-black. The clinical pigmentation was imparted by varying densities and distributions of melanocytes with arborizing dendrites, which were present in all BCCs. Melanophages within the stroma and basaloid cell melanization also contributed to pigmentation. No behavioral or biologic differences in pBCC were documented compared with clinically nonpigmented lesions.

Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management.

Ocular cicatricial pemphigoid is a devastating autoimmune blistering disorder mainly affecting the conjunctiva but frequently associated with systemic mucosal findings. This article is an update of the pathogenesis, ocular findings, differential diagnosis, and approaches to treatment.