Patency of the lacrimal drainage system in patients with a peripunctal tumour.

Purpose: To examine the patency or secondary obstruction of the lacrimal drainage system in patients with a peripunctal tumour.Methods: This retrospective, observational, and comparative study included 10 patients with a peripunctal tumour. Lacrimal probing and syringing in all patients and dacryoendoscopic examinations in 5 patients were performed to check for patency of the lacrimal drainage system. Tear meniscus height (TMH) was measured bilaterally in the upper and lower eyelids using anterior segment optical coherence tomography and compared in relation to the affected side using one-way ANOVA.Results: All patients did not complain of epiphora. Probing gave a hard stop and irrigation fluid passed into the nose. A patent punctum/canaliculus was also confirmed by dacryoendoscopy in all of the 5 patients. TMH was not significantly different among the sides (P = .900).Conclusions: This study shows patency of the lacrimal drainage system in patients with a peripunctal tumour and no significant difference in TMH among the sides, resulting in absence of epiphora in all patients.

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

Nasopalpebral lipoma-coloboma syndrome (NPLCS, OMIM%167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented. Exome sequencing identified a de novo heterozygous frameshift dinucleotide insertion c.6245_6246 insTT (p.His2082fs*67) in ZDBF2 (zinc finger, DBF-type containing 2), a gene located at 2q33.3. This variant was absent in parental DNA, in a set of 300 ethnically matched controls, and in public exome variant databases. This is the first genetic variant identified in a NPLCS patient and evidence supporting the pathogenicity of the identified mutation is discussed. © 2016 Wiley Periodicals, Inc.

Visual acuity and astigmatism in periocular infantile hemangiomas treated with oral beta-blocker versus intralesional corticosteroid injection.

BACKGROUND: Periocular infantile hemangiomas (PIH) can induce anisometropic astigmatism, a risk factor for amblyopia. Oral beta-blocker therapy has largely supplanted systemic or intralesional corticosteroids. The purpose of this study was to evaluate the effect and time course of these treatment modalities on visual acuity and induced astigmatism. METHODS: The medical records of patients with PIH treated with oral propanolol between November 2008 and July 2013 were retrospectively reviewed for data on visual acuity and astigmatism. Patients with incomplete pre- and post-treatment ophthalmic examinations were excluded. Results were compared to those of a similar cohort treated with intralesional corticosteroid injection. RESULTS: Mean astigmatism in affected eyes was 1.90 D before propranolol and 1.00 D after; patients showed a monophasic reduction in astigmatism over 12 months. By comparison, patients treated with corticosteroid injection showed a biphasic response, with an immediate steep decrease followed by a slow monophasic decline, paralleling propranolol-treated patients. Oral propranolol treatment caused a 47% reduction in mean induced astigmatism, less than the 63% reduction reported for the cohort treated with corticosteroid. No patient had visual acuity in the affected eye more than 1 standard devation below the age-matched norm, and none experienced significant side effects when treated with oral propranolol. CONCLUSIONS: In this patient cohort oral beta-blocker was well-tolerated. Treatment was therefore often initiated prior to the induction of significant astigmatism, with treatment effects comparable to steroid treatment. Visual outcomes were good. Early treatment may minimize the potential effect of astigmatism on postnatal visual development.

Carcinoma palpebral de células de Merkel. Serie de 5 casos y revisión de la literatura / Merkel cell carcinoma of the eyelid. A series of 5 cases and review of the literature

OBJETIVO: Estudio descriptivo de 5 casos clínicos de carcinoma de Merkel a nivel palpebral, destacando las características clínicas, histopatológicas, el manejo y seguimiento. Revisión de literatura asociada. MÉTODOS: Revisión retrospectiva de fichas clínicas y entrevista telefónica a 5 pacientes tratados por carcinoma de células de Merkel entre los años 2006-2013, en el Departamento de Órbita y Oculoplástica del Hospital Clínico de la Universidad de Chile. RESULTADOS: Cinco pacientes (2 hombres, 3 mujeres), de 79,2 años (rango 64-94 años), con una evolución de 10 semanas (rango 5-16 semanas), con un tamaño tumoral de 2,5 × 2 X 2,1 cm en promedio al momento de la cirugía. Descritos como una masa nodular, exofítica, sólida, de color rojizo. Sin adenopatías sospechosas ni metástasis en el primer enfrentamiento. Tipificados como T2N0M0, tras la primera cirugía con criterios oncológicos. Se observó, durante el seguimiento, 2 recurrencias en nódulo linfoide. Encontramos metástasis a distancia en un paciente. El diagnóstico histopatológico se confirmó mediante biopsia corriente más inmunohistoquímica. La estrategia quirúrgica fue con extirpación completa, control de márgenes libres y reconstrucción palpebral con colgajo de Hughes, Cutler-Beard o cierre primario. CONCLUSIONES: El diagnóstico precoz, la extirpación amplia del tumor con control de márgenes libres intraoperatorio con cirugía convencional o técnica de Mohs y una adecuada reconstrucción palpebral permiten una supervivencia en pacientes añosos portadores de este tumor a nivel palpebral. Se recomienda el estudio de ganglio centinela y biopsia en la intervención primaria, junto a una radioterapia posterior, que disminuye la recurrencia y aumentaría la supervivencia

OBJECTIVE: Presentation of 5 clinical cases of Merkel cell carcinoma of the eyelid, highlighting the clinical, histopathological, management, and monitoring features. Review of related literature. METHODS: Retrospective review of clinical records and telephone interview of the 5 patients treated for Merkel cell carcinoma between 2006 and 2013, in the Orbit and Oculoplastic Department, Clinical Hospital of the University of Chile. RESULTS: Five patients (2 men, 3 women); 79.2 years (range 64-94 years), with a mean onset of 10 weeks (range 5-16 weeks), tumour size reaching a mean of 2.5 × 2 × 2.1 cm at the time of surgery. Described as a nodular mass, exophytic, solid, reddish coloured. With no infiltrated lymph nodes or metastases in the first match. Staging as T2N0M0, after the first surgery with oncological criteria. Two lymph node recurrences detected during monitoring. Distant metastasis was found in one patient. The histopathological diagnosis was confirmed by immunohistochemical study of the biopsy. The surgical strategy was full excision, control of surgical margins in the intraoperative period, and eyelid reconstruction with Hughes flap, Cutler/Beard flap or primary closure, depending on the case. CONCLUSIONS: Early diagnosis, wide excision of the tumour with intraoperative control of clear margins with conventional or Mohs surgery, and proper eyelid reconstruction are adequate for a good survival in elderly patients with this eyelid tumour. The study of sentinel lymph node biopsy in primary intervention is recommended; with subsequent radiotherapy to decrease the recurrence and increase survival

Comparison of intralesional corticosteroid and propranolol treatment of periorbital infantile hemangiomas: an outcome study of 61 cases.

PURPOSE: To compare intralesional corticosteroid (IC) injections with oral propranolol in children with periorbital infantile hemangioma (IH). METHODS: Children were diagnosed with IH and treated with IC (n = 29) or propranolol (n = 14). In cases in which no further improvement was seen, treatment was stopped and the outcome measured. Type, duration, and complications of treatment and supportive or additional therapies were scored, along with outcomes of visual measurements, at the start and end of therapy. RESULTS: Twenty-one of the 29 children (72%) treated with IC injections were given a second injection and 16 (55%) were given more than two. Median duration of IC therapy was 15.9 months (interquartile range (IQR) 10.28), compared with 6.5 months (IQR 4.87) for propranolol (p<0.001). The complications reported after IC injections were bleeding (n = 9) and ulceration (n = 7). No complications were noted in the propranolol group. Additional therapy consisting of oral prednisolone therapy was applied in one child from the steroid-treated group. The levels of amblyopia and the median absolute improvement did not significantly differ between the groups. CONCLUSIONS: The IC injections and oral propranolol medication equally improved amblyopia in children with IH of the periorbital and cheek region; however, propranolol was associated with fewer complications and additional or supportive treatment was not indicated. We prefer oral propranolol medication over IC injections in cases in which IH threatens to hamper visual acuity.

Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.

PURPOSE: To describe the visual outcomes and volumetric magnetic resonance imaging (3D MRI) in children with neurofibromatosis type 1 (NF1) and orbitotemporal plexiform neurofibromas. DESIGN: Multicenter retrospective case series. METHODS: Two institutions with dedicated NF1 clinical research programs queried their established clinical databases for children with orbitotemporal plexiform neurofibromas. Visual acuity, refractive error, ambylopia, and treatment history were abstracted. Extent of orbitotemporal plexiform neurofibroma involvement was assessed clinically and with 3D MRI analysis. Children with optic pathway gliomas or ocular causes of decreased visual acuity (ie, cataracts, glaucoma) other than strabismus or anisometropia were excluded. RESULTS: Twenty-one children met inclusion criteria (median age 8 years, range 0.33-23 years). Orbitotemporal plexiform neurofibroma location was classified as isolated eyelid (n = 6), eyelid and orbit (n = 7), orbit and temporal region (n = 7), or diffuse orbit (n = 1). Three subjects had bilateral orbital involvement. Amblyopia secondary to the orbitotemporal plexiform neurofibroma was present in 13 subjects (62%) and was caused by strabismus (n = 2, 10%), occlusion from ptosis (n = 9, 43%), or anisometropia (n = 9, 43%), or a combination of factors (n = 6, 29%). MRI-derived volumes were measured in 19 subjects (median 41.8 mL, range 2.7-754 mL). All subjects with amblyopia had orbitotemporal plexiform neurofibroma volumes greater than 10 mL. CONCLUSION: In our series, amblyopia occurs in more than half of NF1 children with orbitotemporal plexiform neurofibromas, most commonly because of ptosis and anisometropia. The 3D MRI analysis allowed for sensitive measurement of orbitotemporal plexiform neurofibroma size, and larger volumes were associated with development of amblyopia.

Mohs micrographic surgery of the eyelid: an overview of anatomy, pathophysiology, and reconstruction options.

BACKGROUND: Mohs micrographic surgery (MMS) is the ideal treatment for skin cancer removal. The advantages of MMS in the eyelid area include its high cure rate, tissue-sparing effects, and overall cost effectiveness. OBJECTIVE: To review eyelid anatomy, detail ocular tumors that are amenable to MMS, and examine the surgical repair options commonly used in this area. MATERIALS AND METHODS: A review of the literature on MMS of the eyelid was performed with specific reference to ocular anatomy, eyelid malignancy types, and surgical reconstruction. CONCLUSION: Eyelid function is critical for the maintenance of ocular health and vision. MMS is an ideal skin cancer treatment for the delicate structure of the eyelid, where maximal tissue preservation is critical. There are a plethora of reconstruction options to consider after MMS has been performed in this area. The choice of repair and surgical outcome depend, in part, on the surgeon's knowledge of eyelid anatomy and his or her ability to assess the repair requirements of the post-MMS defect. Dermatologic surgeons can effectively work with other specialists to help ensure that their patients receive a cure with restored ocular function and optimal cosmesis.

Colour Doppler ultrasound imaging findings in paediatric periocular and orbital haemangiomas.

PURPOSE: To evaluate the combined grey-scale ultrasonography (US) and colour Doppler imaging (CDI) as the first and primary imaging modalities in diagnosing paediatric orbital haemangiomas. METHODS: The charts of 20 consecutive children with a periorbital mass echographically diagnosed as a haemangioma between January 2004 and June 2009 in the Tel-Aviv Sourasky Medical Center were reviewed. Data on demographic details, clinical findings, US and CDI characteristics, treatment and outcome were retrieved. RESULTS: Twelve (60%) haemangiomas were located on the upper eyelid, five in the lower eyelid (25%) and three in the medial cantus (15%). The tumour resolved completely in 10 children (50%) and in 10 children (50%) partial resolution was documented. Seven (35%) patients underwent treatment (intralesional or oral steroids or propranolol). Grey-scale US depicted a solid-tissue mass with low internal echogenicity. Mean haemangioma volume was 1.33 cm(3) . Colour Doppler imaging demonstrated intralesional flow with a mean peak systolic velocity of 15.2 cm per second and a mean resistance index of 0.51. All US and CDI examinations were carried out on alert children and no sedation or general anaesthesia was needed. During mean follow-up time of 23 months, no child required any additional imaging or diagnostic procedures to confirm the diagnosis. CONCLUSION: Combined US and CDI are suggested as the first imaging modalities in cases with a suspected diagnosis of periocular and orbital capillary haemangioma.

Refractive and structural changes in infantile periocular capillary haemangioma treated with propranolol.

PURPOSE: To evaluate the optical and anatomical effects of oral propranolol treatment for infantile periocular capillary haemangioma. METHODS: All children diagnosed with infantile capillary haemangioma in 2008-2010 at a tertiary paediatric medical centre underwent comprehensive evaluation, including imaging, by a multidisciplinary team followed by oral propranolol treatment. Clinical follow-up was performed regularly until the lesions disappeared. Main outcome measures included changes in anatomical extraocular extension, refractive sphere and cylindrical power, and spherical equivalent in the involved eye before and after treatment and between the two eyes. RESULTS: A total of 30 patients (8 male; mean age at diagnosis, 1.6±2.8 months) participated. The lesions affected the left eye in 53.3% and were located preseptally in 83.3%. Four patients (13.3%) received steroids before propranolol. A treatment dosage of 2 mg/kg per day was started at mean age 5.0±4.5 months, 3.3±4.3 months from disease onset. Side effects occurred in 11 patients and warranted a dose reduction (to 1 mg/kg per day) in 3 and treatment termination in 1. Findings were significant for mean reduction in involved extraocular area (P<0.0001), post-treatment reduction in mean cylindrical power in involved eyes (P=0.02), pre- and post-treatment differences in mean cylindrical power between involved and uninvolved eyes (P=0.02 and P=0.01, respectively), and post-treatment change in absolute values of mean spherical power between involved and uninvolved eyes (P=0.025). CONCLUSIONS: Early diagnosis of infantile periocular capillary haemangioma and prompt treatment with propranolol lead to a significant reduction in the involved ocular area, in astigmatism, and prevent ocular/facial disfiguration/deformation, without rebound. Propranolol is recommended as the preferred treatment compared with other accepted therapies.

Visual development in infants: visual complications of periocular haemangiomas.

UNLABELLED: Periocular haemangioma of childhood can severely impact visual development. OBJECTIVE(S): To review our experience with 20 periocular haemangioma patients; to review infant ocular development in the context of periocular capillary haemangioma; to identify early clinical warning signs that may precede devastating visual outcomes in the absence of timely management and to review our experience with surgical debulking for the treatment of selected periocular haemangioma. DESIGN: Retrospective case series. INTERVENTIONS: Twenty children with congenital periocular haemangiomas received care by a multidisciplinary team consisting of doctors from the specialties ophthalmology, plastic surgery, paediatrics and dermatology. The patients were separated by age at presentation to our centre (1 year). Based on consensus amongst the team, certain patients were considered to be at high risk for development of amblyopia, permanent cortical visual change or blindness. These patients were scheduled for urgent surgical excision or debulking. The effect of treatment on visual development over time was evaluated. RESULTS: Patients presenting to our centre after 1 year of age were more likely to have amblyopia (75% vs. 0% if presenting at

Merkel cell carcinoma of the eyelid review of the literature and report of patients with Merkel cell carcinoma showing spontaneous regression.

PURPOSE: To evaluate the clinical and histopathologic characteristics of Merkel cell carcinoma (MCC) of the eyelid. DESIGN: Retrospective case series and literature review. PARTICIPANTS: Three consecutive patients with MCC of the eyelid who were referred to the Ocular Oncology Unit of Leiden University Medical Center, Netherlands. METHODS: Clinical records and histopathologic material of patients with eyelid MCC were reviewed. The clinical presentation and treatment were evaluated. MAIN OUTCOME MEASURES: Clinical and histopathologic description of eyelid MCC, with histologic proof of spontaneous regression of the tumor. RESULTS: Three patients with MCC of the eyelid were included. Diagnosis was made by pathologic investigation and immunohistochemistry (S100, cytokeratin 20, epithelial membrane antigen, chromogranin). Two of the patients showed histologically proven complete spontaneous regression after nonradical excision of the tumor. After local excision, none of the MCCs demonstrated local recurrence, without regional or distant metastases. Mean clinical follow-up was 50 months. CONCLUSIONS: Nonocular MCC is known to recur in 66% of patients and to be lethal in almost 33%. Merkel cell carcinoma of the eyelid is a rare malignancy that can not be recognized clinically. Clinical differential diagnosis must be made with a chalazion, and histopathologic differential diagnosis must be made with small cell carcinomas. Close follow-up of these patients is advised because of the potential high recurrence rate and lymphatic spread. The immunologic phenomenon of spontaneous regression points out the importance of the immune system in this disease.

High incidence of demodicidosis in eyelid basal cell carcinomas.

BACKGROUND: Although UV radiation is the major cause of basal cell carcinoma (BCC), local factors, such as chronic trauma, irritation, or inflammation, may also have some role in its etiopathogenesis. The pilosebaceous follicle mites, Demodex folliculorum and D. brevis, inhabit most commonly and densely certain facial skin areas, including the nose and periorbital regions, where BCC also develops most frequently. AIM: To investigate, in a retrospective histopathologic study, whether a possible etiopathogenetic relationship exists between demodicidosis and eyelid BCCs. METHODS: We examined 32 eyelid BCC specimens that contained at least five eyelashes or five hair follicles with respect to the presence and density of Demodex mites. As controls, we evaluated 34 matched specimens consisting of benign eyelid skin lesions. RESULTS: Twenty-one of 32 BCC cases (65.6%) and eight of 34 control cases (23.33%) had demodicidosis. Mean mite counts were 1.31 +/- 1.57 and 0.47 +/- 0.99 in BCC cases and controls, respectively. The differences were significant for both prevalence (P < 0.001) and density (P = 0.0052). Although there was a significant positive correlation between increasing mite number and patient age in the control group (r = 0.47, P < 0.05), no significant correlation was found between these two factors in BCC cases (r = -0.102, P > 0.05). CONCLUSIONS: Demodicidosis may be one of the triggering factors of carcinogenesis in eyelid BCCs in otherwise predisposed people due to its traumatic/irritating effect or chronic inflammation.

Sebaceous carcinoma of the eyelids: a review of six cases.

Sebaceous carcinoma of the eyelid, although rare, carries a grave prognosis when diagnosed late. It may be mistaken by the unsuspecting ophthalmologist for a chalazion or chronic blepharoconjunctivitis. Six cases are presented. Three patients were in their fifth decade and the remaining three were over seventy. The latter group presented with advanced local disease and had poorly differentiated tumours. The two oldest patients died of metastasis within 54 months of presentation despite total excision of the lid tumour. This review demonstrates the problems encountered in diagnosis and management.

Electromyographic studies of the reconstructed lower eyelid after a modified Hughes procedure.

PURPOSE: We evaluated quantitatively, with electromyography, the function of orbicularis oculi muscle flaps in modified Hughes reconstructions of the lower eyelids. METHODS: A modified Hughes procedure with a bipedicle orbicularis oculi flap was used to reconstruct large left lower eyelid defects after tumor excision in six consecutive patients. Standard needle electromyography and facial nerve conduction studies were performed on each reconstructed lower eyelid, and results were compared with those of the unoperated-on right lower eyelid. Electromyographic studies were performed between 143 and 517 days after division of the tarsoconjunctival flap. RESULTS: Blink reflexes and results of facial nerve studies were normal and similar on both sides. All operated-on eyelids demonstrated electromyographic activity during voluntary orbicularis contraction. The functional and cosmetic results were satisfactory in all patients. No complications of reconstruction, such as eyelid retraction, ectropion, tissue necrosis, or abnormal contour or thickness, occurred. CONCLUSIONS: A modified Hughes procedure using a bipedicle orbicularis oculi flap provides viable, electrically active muscle to the reconstructed lower eyelid and may enhance the functional results.