Epibulbar Complex Choristoma Containing Bone: A Case Report and Closer Look at Classifications.

Introduction: Epibulbar choristoma is a benign congenital lesion containing histologically normal-appearing tissue in an abnormal ectopic location. An epibulbar choristoma is classified as either epibulbar dermoid, dermolipoma, or complex choristoma based on histological examination. The case presented was a presumed epibulbar dermolipoma with no signs of ossification on imaging, examination, or intraoperatively until the specimen was examined histologically, clarifying the lesion as an epibulbar complex choristoma. Reassuringly, the presence of bone in such lesions should not change management. Case Presentation: A mother noticed a small fleshy mass on her 9-year-old daughter's superotemporal bulbar conjunctiva. The suspected epibulbar dermolipoma was confirmed with MRI and initially managed conservatively. Two years later, she was referred for apparent growth and cosmetic concerns, and she underwent surgical debulking. Conclusion: We present this case for its unusual presentation and histological findings. Orbital surgeons should be aware of the possibility of ossification of epibulbar choristomas and avoid confusion with alternative diagnoses. Clarification of the latest classification system for epibulbar choristomas is provided.

Epibulbar simple cartilaginous choristoma associated with unique pigmented multicystic component.

PURPOSE: To report an atypical presentation of an epibulbar simple cartilaginous choristoma with a unique pigmented multicystic component. CASE DESCRIPTION: A 69-year-old African American female presented for evaluation of a right nasal epibulbar lesion that had progressed over the prior year. Slit-lamp evaluation revealed an immobile, mildly pigmented multicystic lesion measuring 6.0 × 4.5 mm that involved the nasal bulbar conjunctiva and the plica semilunaris. The lesion appeared benign, without feeder vessels or features of epithelial dysplasia. Given its recent growth and the patient's cosmetic concerns, the lesion was excised with ocular surface reconstruction. Histopathological evaluation disclosed a well-circumscribed nodule of well-differentiated cartilage in the substantia propria, consistent with a simple cartilaginous choristoma. The overlying conjunctival stroma contained multiple cysts lined by focally pigment epithelium. The patient recovered well from surgery, with satisfactory cosmetic results. CONCLUSIONS: Our case of epibulbar simple cartilaginous choristoma includes a prominent superficial component of pigmented epithelial cysts, which has not been previously reported in the literature. This augments our knowledge on the spectrum of presentations of cartilaginous choristomas and underscores the importance of histopathological evaluation for definitive diagnosis.

Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome. CASE PRESENTATION: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. CONCLUSIONS: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.

Epibulbar osseous choristoma: a case report.

Peribulbar osseous choristoma is a benign, solid nodule; it is a subtype of epibulbar choristomas (belongs to single tissue choristomas), consisting of pure bony tissues. Epibulbar osseous choristoma is the rarest subtype of epibulbar choristomas, with only 65 cases reported since the mid-19th century; so, the rarity of the disease drove me to report it. A 7-year-old female presented with a painless left ocular superotemporal mass, which was present since birth and located under the conjunctiva. The primary diagnoses included lipodermoid and subconjunctival foreign bodies. Ocular interventions included a B-scan, examination under anesthesia and surgical excision of the mass in toto, and the histopathological examination showed that it was an osseous choristoma.

Searching beyond nevi - A rare case of neurocutaneous ocular syndrome.

Epidermal nevus syndrome is a rare congenital disorder affecting only a few hundred people in the world. It has ophthalmic, dermatological, and neurological manifestations, with varied presentation. Here, we report a case of two-year-old child who presented with epibulbar mass in left eye, pigmented nevi over left side of the body and alopecia over left side of parieto-temporal scalp. Imaging confirmed epibulbar mass and presence of calcification of choroid on ipsilateral side with presence of arachnoid cyst of brain with underlying pachygyria. Neurological examination was normal and dermatologist confirmed presence of verrucous nevi over skin. Excisional biopsy of epibulbar mass revealed a complex choristoma with presence of lacrimal gland tissue. Underlying ocular findings were near normal with normal posterior segment. It is a rare form of epidermal nevus syndrome with near normal ocular findings in the presence of anterior and posterior choristoma, which has not been reported.

Goldenhar syndrome associated with lacrimal system agenesis: A case report.

Purpose: To report a case of lacrimal system agenesis in a patient with Goldenhar syndrome. Observations: A one-month-old female preterm twin with Goldenhar syndrome presented with left upper eyelid coloboma, left central corneal ulcer and inferotemporal epibulbar dermoid. The corneal ulcer was treated and healed to a mild stromal scar. Examination under anesthesia prior to surgery revealed agenesis of the upper and lower eyelids canaliculi. Surgery was performed to correct left upper eyelid coloboma. At a second stage, the epibulbar dermoid was excised and ocular surface was repaired with amniotic membrane graft. Conclusion and importance: Goldenhar syndrome is a rare congenital anomaly arising from the abnormal development of the first and second branchial arches. Anomalies of lacrimal drainage system are uncommon in Goldenhar including nasolacrimal duct obstruction and common canalicular obstruction. Agenesis of the lacrimal system has not been described in cases of Goldenhar syndrome. This case represents a unique and uncommonly seen feature.

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. The presence of a nevus psiloliparus in individuals with OES indicates that this finding is not specific for ECCL and highlights the phenotypical overlap between ECCL and OES. The presence of the somatic KRAS variant in the nevus psiloliparus resolves the underlying molecular etiology of this fatty-tissue nevus. In addition, this finding refutes the theory of non-allelic twin-spotting as an underlying hypothesis to explain the concurrent presence of two different mosaicisms in one individual. The identification of codon 146 KRAS variants in isolated epidermal nevus introduces a new hot spot for this condition, which is useful for increasing molecular genetic testing using targeted gene sequencing panels.

Diagnosis of the origin of an epibulbar melanocytic tumor with molecular genomics.

BACKGROUND: Uveal melanoma (UM) and conjunctival melanoma (CM) are distinct entities with different etiologies and genetic background. We present a case of an atypical subconjunctival melanoma arising from a blue nevus. PATIENTS AND METHODS: A 61-year-old female presented with a partially melanocytic epibulbar mass with surrounding episcleral pigmented spots. The lesion was detached from the overlying conjunctiva without an intraocular component. Excisional biopsy revealed a predominantly epithelioid melanoma, that was suggested to be metastasic, although there was no evidence of a primary melanoma elsewhere. RESULTS: Molecular analysis identified GNAQ and BAP1 pathogenic variants, which strongly suggested the diagnosis as a primary epibulbar melanoma arising from episcleral blue nevus. CONCLUSION: This case demonstrates the value of tumor molecular analysis using Next Generation Sequencing (NGS) for differentiating the origin of an unusually located ocular melanoma.

Epibulbar osseous choristoma: Two case reports.

BACKGROUND: Choristoma is a rare, benign, congenital proliferative tumor, with osseous choristoma being the rarest. Although the tumor is benign, effective identification is needed for its diagnosis and treatment. Here, we report the diagnosis and successful surgical treatment of two patients with osseous choristoma. CASE SUMMARY: Two patients, a young female and young male patient, were found to have a mass on the ocular surface. The tumor presented on the superior temporal bulbar conjunctiva in the first patient and on the upper eyelid in the second patient. Ultrasound biomicroscopy detected a strong echo with clear boundaries covering the lower echo, and computed tomography examination revealed calcification. Both patients underwent surgery, and histopathological evaluation of the mass showed osseous choristoma. They were treated by excision and subsequently cured. CONCLUSION: Osseous choristomas are usually asymptomatic. Our patients were cured immediately after surgery, suggesting that surgical treatment is an effective strategy.

Epibulbar solitary myofibroma in an elderly patient: a case report.

A 93-year-old male patient presented with abrupt expansion of an old epibulbar mass at the temporal area of the left eye. He had a medical history of previously treated laryngeal cancer with surgery and radiotherapy. The tumor, despite being firmly attached to the underlying sclera, was excised completely and histopathological examinations revealed a solitary myofibroma. The patient had a 4-month uneventful follow-up with excellent wound healing. Solitary myofibroma may be a differential diagnosis for epibulbar masses in elderly patients.

Surgical management of large bilateral epibulbar dermoids with autologous oral mucous membrane transplantation.

PURPOSE: To report the surgical management of extensive epibulbar dermoids with autologous oral mucous membrane transplantation. OBSERVATIONS: While rare, extensive dermoids that encroach upon the visual axis carry a poor prognosis. We report the case of a 7-week old premature male infant who presented with large bilateral epibulbar dermoids obscuring the visual axis. He was treated first with sequential bilateral optical iridectomies under the clearest corneal areas, followed several months later by sequential dermoid excision and amniotic membrane transplantation in each eye. He subsequently underwent autologous "simple" oral mucosal epithelial transplantation (SOMET) as well as strabismus surgery. Conclusions and Importance: Here we present the first case, to the best of our knowledge, of the use of SOMET in managing post-operative pseudopterygium following dermoid excision. To our knowledge it is the also the first application of this technique in a young pediatric patient. A good clinical outcome may be achieved with SOMET, which may offer a minimally invasive alternative to other traditional modalities.

Epibulbar osseous choristoma: A clinical case and review of the literature. / Coristoma óseo epibulbar: caso clínico y revisión de literatura.

We present the case of a 3-year-old male child with an epibulbar bone choristoma. The patient presented with a hard consistency subconjunctival mass of 8×10mm in the superior-temporal quadrant of his right eye along with vascularisation and a long cilium of approximately 8 to 10mm that touched the corneal surface. The histopathology study showed the presence of trabeculae of mature, compact bone surrounded by fibrous tissue, as well as Havers channels with concentric rings of laminar bone without bone marrow, and with normal osteocytes which defined the diagnosis of epibulbar bone choristoma. Osseous choristoma is the rarest type of the ocular choristoma and should be considered as a differential diagnosis among paediatric epibulbar tumours.

Epibulbar complex choristoma with simultaneous involvement of eyelid: a case report.

BACKGROUND: Epibulbar complex choristoma, a rare congenital epibulbar tumor, has many diverse forms. Reviewing the literature, it can present clinically as either a circumferential or isolated epibulbar mass, limbal tumor, lateral canthal mass, aggregate of ectopic cilia in the upper eyelid, eyelid mass mimicking chalazion, or lacrimal caruncle mass. The management depends on the extent of involvement, the risk of amblyopia, and cosmetic concerns. Here, we report an atypical presentation of epibulbar complex choristoma with simultaneous eyelid involvement. CASE PRESENTATION: A 1-month-old full-term boy was brought to our clinic with congenital epibulbar mass of the right eye with simultaneous eyelid involvement. Dilated fundus examination was unremarkable. Survey for linear nevus sebaceous Jadassohn was negative. Due to concerns of possible amblyopia and cosmetics, lamellar keratectomy, sclerotomy, and conjunctivoplasty were performed to remove the epibulbar lesion. The eyelid defect was reconstructed with 6-0 Vicryl sutures. Histopathological examination reported complex choristoma. Upon three-year follow-up, low astigmatism and favorable cosmetics results were achieved. CONCLUSIONS: Congenital complex choristoma can present clinically as an epibulbar mass with eyelid involvement. The management depends on the extent of involvement, the risk of amblyopia, and cosmetic concerns. The method of eyelid reconstruction should be tailored according to the residual eyelid defect.

Scleritis and anterior uveitis may herald the development of an epibulbar tumor in patients with extranodal Rosai-Dorfman disease: a case report.

BACKGROUND: Rosai-Dorfman disease is a rare non-Langerhans cell histiocytosis. Ocular involvement is even rarer, mostly involving the orbit and eyelids, although marginal corneal ulcers, uveitis, and epibulbar masses have also been reported, and is characterized by multiple recurrences. However, the disease course and optimal treatment strategies remain undetermined, in light of the rarity of this disease. CASE PRESENTATION: We reported a 36-year-old male patient with the extranodal form of Rosai-Dorfman disease, presenting with scleritis and anterior uveitis in the left eye, who experienced subsequent development of an epibulbar tumor in the same eye. The patient was also complicated by a relapsing facial nodule on the right cheek. After the pathological diagnosis of Rosai-Dorfman disease was obtained, the patient underwent surgical excision of the epibulbar tumor and the facial nodule, accompanied by systemic immunosuppression therapy. At the last follow-up, the patient was asymptomatic without signs of recurrence. CONCLUSIONS: This report highlights the progression of ocular manifestations of Rosai-Dorfman disease and emphasizes the importance of systemic therapy.

Epibulbar osseous choristoma: a photo essay case report.

PURPOSE: To present the pre-, per- and postoperative features of epibulbar osseous choristoma. METHODS: Case description including intraoperative imaging and histopathology. RESULTS: A 32-year-old male patient presented with a lesion on his right eye, suggestive of an epibulbar dermolipoma. Excision of bony lesion was performed and revealed epibulbar osseous choristoma. CONCLUSIONS: Epibulbar osseous choristoma is a rare and benign condition which can present with features similar to dermolipoma.

Epibulbar osseous choristoma within a dermolipoma: case report and literature review.

A healthy 18-year-old girl presented with a superotemporal epibulbar mass that was present since birth. Computed tomography revealed a cystic mass with fat-like low-density and a central oval-shaped mass that was isodense to the bone in the superotemporal region of the globe. Histopathology of the excised tumour revealed osseous choristoma and dermolipoma. Our review of literature yielded nine reported cases of epibulbar osseous choristoma within a dermolipoma and we reviewed these cases.

Goldenhar Syndrome - ophthalmologist's perspective.

Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases. The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.

Conjuctival lesions - the relationship of papillomas and squamous cell carcinoma to HPV infection.

The etiology of papilloma formation is multifactorial. There is a strong association between human papillomavirus (HPV) and the development of these conjunctival lesions. HPV is tumorigenic and commonly produces benign tumors with low malignant potential. Papillomas rarely go through malignant transformation. MATERIAL AND METHODS: Retrospective study of patients with a diagnosis of conjunctival papilloma or squamous cell carcinoma. RESULTS: From a collection of 125 patients with conjunctival non-pigmented tumours in the period from 2007 to 2017, in 119 (95.2%) patients histological examination confirmed papilloma and in 6 (4.8%) patients it confirmed carcinoma. Of the total number of patients, 39 were women (31.2%) and 86 men (68.8%). The mean age of patients was 68.4 years (range 20-94 years). Localization of lesions: bulbar conjunctiva - 65 (52.0%), upper eyelid tarsal conjunctiva + fornix - 6 (4.8%), lower eyelid + fornix - 27 (21.6%), caruncle - 20 (16.0%) and plica semilunaris - 7 (5.6%) patients. In the patient cohort we recorded 2 papillomas that were transformed into squamous cell carcinoma. HPV16 was positive in these patients, the carcinomas were from the area of the bulbar conjunctiva, and the surgical solution was associated with the perioperative administration of Mitomycin C. In one case, the inverted papilloma developed into orbital carcinoma within 2 years of primary excision, and the patient underwent radical surgical procedure (partial exenteration of the orbit) followed by radiotherapy. CONCLUSION: Transformation of the papilloma into the carcinoma is rare, but it must always be taken into consideration in case of a recurrence of the disease. HPV can infect the conjunctiva. The ophthalmologist, in collaboration with a pathologist, may recommend appropriate laboratory tests to confirm the diagnosis. Long-term outpatient follow-up of patients after excision of the conjunctival papilloma is also necessary. Key words: epibulbar tumors, conjunctival tumors, papilloma, carcinoma.

Epibulbar osseous choristoma: a case report.

We present a case of a 15-year-old girl with an epibulbar osseous choristoma. The patient presented with a 3×3 mm, whitish, firm subconjunctival mass in the superotemporal quadrant of her right eye with vascularization. She underwent excision biopsy of the mass under topical anesthesia. The pathologic sections were consistent with a well-circumscribed osseous tissue without atypia. Osseous choristoma is one of the rare types of ocular choristoma to be considered in the differential diagnosis of pediatric epibulbar tumors.