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a report by Tomelleri et al.9 affirms the authors’ suspicion that naphazoline can mask symptoms of Horner syndrome by causing mydriasis and reversal of the ptosis. In his report, a 73-yearold patient with known Horner syndrome due to an internal carotid artery dissection used 2 drops of naphazoline to the affected eye to reverse ptosis and miosis as a cosmetic agent when going out in public. The current patient’s diagnosis of carotid dissection was ultimately delayed because his presenting signs for Horner syndrome were inconsistent. His last 4 visits (to ophthalmologists) consistently revealed left upper eyelid ptosis. It seems likely that his use of naphazoline eye drops was the cause of the inconsistent pupillary signs. Naphazoline initially caused both mydriasis and reversal of the ptosis during his early visits, masking the signs of Horner syndrome completely. His development of ptosis at later visits, however, can be explained by tachyphylaxis. A study by Uncini et al.10 used naphazoline to treat myopathic ptosis and noted that it widened the palpebral fissure. This effect was lost after regular daily use for a few weeks.10 In the current patient, the chronic use of naphazoline very likely led to tachyphylaxis and loss of effect on Müller’s muscle and the corresponding lower eyelid muscle. Given more time, the mydriadic effect of naphazoline may have diminished as well. There are no reports that discern or differentiate the timing of tachyphylaxis between Müller’s muscle and iris dilators with the use of naphazoline, but it seems evident that there must be a difference since this patient eventually developed left upper eyelid ptosis but continued mydriadic effects with continued daily use of naphazoline for several weeks. In this case, Horner syndrome was eventually considered because of the patient’s unilateral ptosis with lower eyelid elevation, young age, and ipsilateral nonspecific headache. This case highlights the importance of performing a thorough medical history including over-the-counter medications, complete physical examination, and the benefit of clinical photography and meticulous medical record review. Furthermore, Horner syndrome should remain on the differential diagnosis even in the absence of a full triad of clinical findings, particularly if a topical α-adrenergic agonist such as naphazoline is uncovered in the history.

REFERENCES 1. Liu GT, Volpe NJ, Galetta SL. Pupillary Disorders. NeuroOphthalmology: Diagnosis and Management, 2nd ed. Philadelphia, PA: Saunders Elsevier, 2010:428–431. 2. Lexi-Comp Online™, Lexi-Drugs Online™. Hudson, OH: ­Lexi-Comp, Inc., 2013. 3. Horner JF. Über eine Form von Ptosis. Klin Monatsbl Augenheilk 1869;7:193–8. 4. Milandre L, Pérot S, Salamon G, et al. Spontaneous dissection of both extracranial internal carotid arteries. Neuroradiology 1989;31:435–9. 5. Mokri B, Sundt TM Jr, Houser OW, et al. Spontaneous dissection of the cervical internal carotid artery. Ann Neurol 1986;19:126–38. 6. Müller-Forell W, Rothacher G, Krämer G. [Carotid dissections]. Radiologe 1989;29:432–6. 7. Mokri B, Sundt TM Jr, Houser OW. Spontaneous internal carotid dissection, hemicrania, and Horner’s syndrome. Arch Neurol 1979;36:677–80. 8. Hart RG, Easton JD. Dissections of cervical and cerebral arteries. Neurol Clin 1983;1:155–82. 9. Tomelleri G, Vattemi G, Filosto M, et al. Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition. J Neurol Neurosurg Psychiatry 2007;78:632–4. 10. Uncini A, De Nicola G, Di Muzio A, et al. Topical naphazoline in treatment of myopathic ptosis. Acta Neurol Scand 1993;87:322–4.

Case Reports

Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies Solly Elmann, M.D., Sarah A. Hanson, M.D., Christopher N. Bunce, C.N.A., C.O.T., and Roman Shinder, M.D. Abstract: A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital l­eftsided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors’ knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

E

ctrodactyly ectodermal dysplasia clefting (EEC) syndrome, a form of ectodermal dysplasia, is a rare autosomal dominant syndrome defined by a triad of ectrodactyly of the hands and feet, ectodermal dysplasia, and facial clefting.1 Ocular anomalies may include absence or atresia of the lacrimal drainage system, absent or hypoplastic meibomian glands, dry eye syndrome and keratopathy.1 They herein describe a child with congenital epiphora secondary to punctal atresia that was treated with conjunctivodacryocystorhinostomy, which may be the first such report to date. The research adhered to the tenets of the Declaration of Helsinki and the Health Insurance Portability and Accountability Act.

CASE DESCRIPTION A 9-year-old girl was referred for evaluation of congenital left-sided epiphora. The patient was previously diagnosed with EEC syndrome and had undergone a right external dacryocystorhinostomy at 5 years of age, resulting in resolution of congenital right-sided epiphora. The parents denied any family history of EEC syndrome. Gross inspection revealed cleft lip and palate status-post repair, a pointed nose, lightly pigmented dry hair and skin, and Accepted for publication September 11, 2013. Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York, U.S.A. Supported, in part, by Research to Prevent Blindness. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Roman Shinder, M.D., SUNY Downstate Medical Center, Department of Ophthalmology, 451 Clarkson Ave., E bldg, 8th Fl, Suite C, Brooklyn, NY 11203. E-mail: shinder. [email protected] DOI: 10.1097/IOP.0000000000000060

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Case Reports

FIG. 1.  Clinical photographs demonstrating A, Cleft lip and palate status-post repair, a pointed nose, lightly pigmented dry hair and skin, and right DCR scar. B, Adontia and microdontia, and C, Ectrodactyly of the feet.

FIG. 2.  Slit-lamp photograph displaying absence of the left upper punctum.

a right dacryocystorhinostomy scar (Fig. 1A). Oral examination disclosed adontia and microdontia (Fig. 1B), and ectrodactyly of the hands and feet was noted on extremity evaluation (Fig. 1C). Ophthalmic examination was significant for absence of the upper puncta, absence of the left lower punctum, a n­ ormal-appearing right lower punctum, and a left lacrimal fistula opening to the left caruncle (Fig. 2). The patient also had an increased left tear lake with clear lacrimation, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube. At follow up 12 months after surgery, the patient’s epiphora had resolved.

DISCUSSION EEC syndrome is a rare condition first characterized in 1970 by Rüdiger et al.2 as a triad of ectrodactyly of the extremities, ectodermal dysplasia, and facial clefting. Ectrodactyly is distinguished by absent central digits of the hands and feet, often accompanied with syndactyly of the remaining digits.2 Ectodermal dysplasia presents with abnormal development of the skin, hair, teeth, and sweat glands.3 Facial clefting often includes the palate and the lip. Lacrimal anomalies have also been cited as a fourth major distinguishing feature of EEC

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syndrome.2 Other minor features include renal anomalies, deafness, choanal atresia, and mental retardation.4 Disruption of the development of embryonal ectoderm has been implicated in this syndrome, explaining the constellation of symptoms discussed. In particular, ectodermal dysplasia includes a variable assortment of features, including hypohydrosis due to absent sweat glands, scale-like skin, brittle nails, and malformation of the inner ear and larynx.3 Buss et al.3 described a series of 24 patients with EEC syndrome. Among the findings reported, teeth and hair were affected in all 24 cases, and 21 of the cases (87%) featured lacrimal anomalies causing epiphora.3 Corneal scarring with severe visual impairment was reported in 4 cases, with 1 requiring corneal grafting.3 Cockayne5 described a case of EEC syndrome with congenital lacrimal duct obstruction that resulted in dacryocystitis. In severe instances, corneal perforation has been associated with EEC syndrome,3,6 highlighting the importance of proper diagnosis and management and initiating some to postulate that the ophthalmic features of this syndrome can potentially be the most serious.7 Cannalicular atresia, as may have been present in this patient given the documented punctal atresia, has been described as a possible marker for autosomal dominant disease3; however, no family history of EEC syndrome was elicited in the described patient. Rarely, punctal and cannalicular atresia have been reported in cases of EEC syndrome,8 but only in a few prior cases has complete atresia of both the upper and lower puncta on the same side been described as was noted in the described patient. Rather than frank atresia, past reports more often describe fibrosis or membrane formation over the puncta that can be punctured through and cannulated. Presence of lacrimal fistula has only been described in 2 prior cases,8,9 and in both, the fistula exited to the lower eyelid skin. The described patient is unique in that the lacrimal fistula communicated to the caruncle. Other ocular signs present in the described patient are commonly associated with EEC syndrome including hypoplastic meibomian glands, thin eyelid cilia and brow hair, and conjunctival hyperemia.10 The management of the various congenital lacrimal anomalies seen in EEC syndrome has not been fully described in the literature. Past reports have described cannalicular probing with or without intubation, dacryocystorhinostomy, and corneal repair techniques including grafting.8 Given the absence of both the left, upper, and lower puncta in the described patient, a conjunctivodacryocystorhinostomy with insertion of Jones tube was needed to resolve the epiphora.

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In conclusion, the authors describe a case of EEC ­syndrome complicated by upper and lower punctal atresia requiring conjunctivodacryocystorhinostomy for epiphora resolution. EEC syndrome should be on the differential diagnosis in any child with congenital lacrimal anomalies, and a multidisciplinary team should be recruited to properly care for the ailments of these children.

REFERENCES 1. Felipe AF, Abazari A, Hammersmith KM, et al. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review. Int Ophthalmol 2012;32:475–80. 2. Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160–3. 3. Buss PW, Hughes HE, Clarke A. Twenty-four cases of the EEC syndrome: clinical presentation and management. J Med Genet 1995;32:716–23. 4. Oğur G, Yüksel M. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. J Med Genet 1988;25:37–40. 5. Cockayne E. Cleft palate, hare lip, dacrocystitis and cleft hand and feet. Biometrika 1936;28:60–1. 6. Kaiser-Kupfer M. Ectrodactyly, ectodermal dysplasia, and clefting syndrome. Am J Ophthalmol 1973;76:992–8. 7. Freid K. Ectrodactyly, ectodermal dysplasia and clefting syndrome. Clin Genet 1972;3:396–400. 8. McNab AA, Potts MJ, Welham RA. The EEC syndrome and its ocular manifestations. Br J Ophthalmol 1989;73:261–4. 9. Tien AM, Tien DR. Bilateral congenital lacrimal sac fistulae in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome. J AAPOS 2006;10:577–8. 10. Mondino BJ, Bath PE, Foos RY, et al. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. Am J Ophthalmol 1984;97:496–500.

Primary Renal Carcinoid Metastatic to the Orbit

Case Reports

disease ranging from 61% for tumors with no atypia to 24% for atypical histology.3 Carcinoid tumors tend to metastasize to the lymph nodes, liver, and bone.2 Treatment may consist of surgery, somatostatin analogs that have been shown to stabilize tumor growth and provide symptomatic relief, targeted irradiation with radiolabeled somatostatin receptor analogs, and more recently, the use of mammalian target of rapamycin (mTOR) inhibitors.3–5 The literature contains few reports of carcinoid tumor metastatic to the orbit.2–4,6–8 The authors herein report on a patient in whom a primary renal carcinoid tumor metastasized to the lateral rectus muscle, which to their knowledge is only the second description of a primary renal carcinoid metastasizing to the orbit. The research adhered to the tenets of the Declaration of Helsinki and the Health Insurance Portability and Accountability Act.

CASE REPORT A 70-year-old man, with a history of left nephrectomy for a left renal carcinoid tumor diagnosed 1 year prior to presentation, was referred by his oncologist for evaluation of a several month history of painless left globe proptosis with no diplopia. At the time of presentation, the patient had known metastatic disease of the retroperitoneal lymph nodes, lungs, and vertebrae, for which he was being treated with octreotide and everolimus. On examination, visual acuity was 20/25 OD and 20/30 OS. He had 2 mm of axial left globe proptosis by Hertel exophthalmometry (Fig. 1). The remainder of his ophthalmic examination was benign including full extraocular movements without diplopia, confrontational visual fields, and pupillary light reflex. Orbital MRI with gadolinium revealed a 2.0  ×  1.4  ×  1.2  cm ­well-circumscribed, homogeneous, enhancing mass in the left lateral rectus muscle (Fig. 2). Given the known metastatic history, the examination and radiographic findings were consistent with metastasis to the left orbit. Given that the patient was asymptomatic, a decision to observe was agreed on. At last follow up, 6 months after presentation, the patient had no visual complaints and maintained stable proptosis without diplopia.

Deep Parikh, B.A., and Roman Shinder, M.D. Abstract: A 70-year-old man with a medical history of metastatic renal carcinoid tumor presented with several months of painless proptosis of the OS. The patient was receiving octreotide and everolimus chemotherapy. MRI revealed a well-circumscribed mass in the left lateral rectus muscle consistent with metastasis. Because the patient was asymptomatic, he was observed and maintained a stable amount of proptosis without diplopia or change in vision.

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arcinoids are neuroendocrine tumors that arise from enterochromaffin cells and most commonly occur in the gastrointestinal tract (74%) and bronchial system of the lungs (25%).1,2 Less than 1% of cases arise in the genitourinary system, with the testes and ovaries being the most common locations, followed by the kidneys.1 Carcinoid tumors constitute 0.5 % of all malignancies with a 5-year survival rate for metastatic

Accepted for publication September 11, 2013. Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York, U.S.A. Supported by Research to Prevent Blindness. The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Roman Shinder, M.D., Department of Ophthalmology, SUNY Downstate Medical Center, 541 Clarkson Ave., E bldg, 8th Fl, Suite C, Brooklyn, NY11203, U.S.A. E-mail: [email protected] DOI: 10.1097/IOP.0000000000000061

DISCUSSION Metastasis of carcinoid tumors to orbital structures is a rare occurrence with few reported cases in the literature.2–4,6–8 Carcinoids comprise 4% to 5% of orbital metastasis with a 5-year survival of 72%.3 Shinder et al.7 showed that of 28 patients evaluated at a comprehensive cancer center over a decade with metastasis to the orbit, only 2 had metastatic disease from carcinoid tumors. Shields et al.8 similarly found only 3 of 91 orbital metastasis evaluated over a 30-year period at a tertiary ocular oncology service were due to carcinoid tumors. Metastasis to the orbit from carcinoid tumor may represent the initial sign of malignancy in a patient without a known carcinoid diagnosis, or present as late as 20 years following initial diagnosis.2 The most commonly involved orbital structures in metastatic carcinoid are the vascular recti muscles and orbital fat.4,6 Common presenting signs and symptoms include limitation of ocular movements with binocular diplopia, proptosis, and less commonly reduced vision and orbital pain.2,3 Neuroendocrine cells do not typically exist in renal tissue, and thus, primary renal carcinoids are rare with only 81 reported cases in the English literature.1 In the only other reported case of a primary renal carcinoid metastatic to the orbit, Khaw et al.2 describe a 50-year-old woman treated with a left nephrectomy that went on to develop hepatic metastasis 6 years later, followed by metastasis to the cervical spine and bilateral lateral rectus muscles. The patient developed proptosis and diplopia, both of which responded to external beam radiotherapy.2

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Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of cong...
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