Phenotypic characterization of epibulbar dermoids.

The purpose of this study was to characterize the phenotypic presentation, clinical course, and outcomes of epibulbar dermoids (EpDs) which are the most common congenital eye tumor in children. Sixty-eight dermoids were identified in 58 eyes of 48 patients of Seattle Children's Hospital between 1981 and 2014 via electronic medical record search. Patients were organized into: "EpD-Only" [patients without other congenital anomalies (n = 13)], "EpD-CFM" [patients with a craniofacial microsomia (CFM) diagnosis (n = 25)], and "EpD-Other" [patients with other congenital anomalies (n = 10)]. All EpD in the EpD-Only group were unilateral and singular, while the EpD-CFM group had six cases with multiple unilateral EpD and five cases with bilateral EpD. In the EpD-Only group, 69 % of EpD were left sided, whereas in the EpD-CFM group, there was no side predisposition. Among both groups, the majority of EpD were limbal or lipodermoids in the inferotemporal quadrant of the eye. Surgery was more common and at a younger age in the EpD-CFM group than the EpD-Only group (56 vs. 38 %, 5.2 vs. 7.0 years). Follow-up surgeries occurred only in the EpD-CFM group (21 %). EpDs were most commonly associated with preauricular tags, congenital heart defects, genitourinary, and nervous system anomalies. Whereas the location and type of EpDs did not significantly differ between the groups, the phenotype in the EpD-Only group appears to be less complex. This may indicate an important difference between EpDs in isolation and those within CFM. Additional studies will further characterize these phenotypes and outcomes.

Proptosis congénita secundaria a teratoma orbitario. Estudio clinicopatológico / Congenital proptosis secondary to orbital teratoma. Clinicopathological study

Caso clínico: Recién nacido masculino con proptosis secundaria a tumor retroorbitario. La exploración oftalmológica mostró úlcera corneal, perforación, hernia del iris, oftalmoplejia y retracción palpebral. Se realizó estudio anatomopatológico con diagnóstico de teratoma maduro. Discusión: El teratoma congénito maduro es una neoplasia germinal con presencia de elementos maduros de las tres capas germinales. Es una lesión poco frecuente en la órbita que debe ser incluida en los diagnósticos diferenciales cuando se encuentra un tumor retroorbitario congénito(AU)

Case report: A newborn male with right proptosis secondary to a retroocular mass. Ophthalmological examination also showed corneal ulcer and perforation, iris hernia, total ophthalmoplegia, chemosis and eyelid retraction. The histopathologydiagnosis was mature teratoma. Discussion: Teratomas are tumors composed of a mixture of mature tissues consisting of 3 germ layers. Congenital teratomas of the orbit are very rare and should be included as a possibility in cases with a primary tumor in the orbit(AU)

Report of rare palatal expression of Nevus of Ota with amendment of Tanino's classification.

Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino's classification, the authors propose a modification to the same.

Surgical therapy of unusual congenital corneal fibroma.

Surgical removal of left congenital limbo corneal mass by peripheral lamellar keratoplasty (LKP) using preserved remaining corneasclera graft from other recipient was effective for the treatment of limbocorneal fibroma. A case of 17 year old Chinese girl with a corneal mass since her birth on 4:00 'O clock position showed a size of about 2-3 mm. The patient was treated with total resection of the mass with part of Corneascleral Limbus and partial cornea with adjacent tissue and was diagnosed as fibroma after histopathology examination. After follow-up for 6 month, the vision and eye ball movements were normal and the graft was in normal position.

[Multiple familiar trichoepithelioma (Brooke's syndrome) : A rare autosomal dermatosis with possible periocular manifestation]. / Multiple familiäre Trichoepitheliome (Brooke-Syndrom) : Eine seltene Genodermatose mit möglicher periokulärer Manifestation.

Brooke's syndrome is a rare autosomal dominant dermatosis characterized by multiple trichoepitheliomas, which preferentially arise in the face. Therapy consists of excisional surgery of larger tumors and for multiple lesions, dermal abrasion or laser therapy may be considered. Patients with Brooke's syndrome should be closely followed-up due to the possible development of malignant skin tumours. Here, we present a patient with Brooke's syndrome and report on the course of treatment.

[Recurrent corneal tumour in a child]. / Rezidivierender Hornhauttumor bei einem Kind.

We present the clinical and histopathological findings in the unusual case of a recurrent corneal tumour in a child. Light and ultrastructural observations as well as immunohistochemistry indicate a benign reactive process. However, the prognosis regarding visual function is poor due to the infiltrative nature of the lesion and its tendency to recur. A possible diagnosis of nodular fasciitis is discussed.

Congenital ocular dermoid cyst in a river buffalo (Bubalus bubalis) calf.

Clinical and histopathological findings of a congenital ocular dermoid cyst, located at the lower eyelid of a river female buffalo (Bubalus bubalis) calf were presented. A soft, fluctuant, non-tender, hyperaemic cystic mass was detected overlaying the left eye. Fine needle aspirate revealed filamentous debris with no malignant cells. The cyst was treated surgically by orbital exenteration and subsequently subjected to histopathological examination. The histopathological study disclosed a conjunctival dermoid cyst. This report is novel, in that; such ocular cyst has not previously been described in river buffalo calves.

Bone marrow transplantation for therapy-related acute myeloid leukemia in congenital retinoblastoma associated with 13q deletion syndrome.

Children with constitutional deletion of the long arm of chromosome 13 are at risk for retinoblastoma (RB) due to loss of the RB tumor suppressor gene. The prognosis is poor since the tumors are often bilateral, aggressive, and recurrent and the patients often harbor other congenital abnormalities. One further complication is that of therapy-related malignancies later in life. We report a case of allogeneic stem cell transplantation for therapy-related acute myeloid leukemia in an 8-year-old girl after multimodality treatment for refractory bilateral relapsing RB, with excellent outcome in both the ophthalmic and marrow disease.

Huge corneal dermoid in a well-formed eye: a case report and review of the literature.

A 25-day-old boy presented with a left corneal mass and left nasal obstruction. The mass involved the entire cornea with a skin-like surface and protruded outside the palpebral fissure. CT of the orbits disclosed a large cyst coating the entire left cornea, in an eye with a well-formed anterior chamber and a clearly evident lens. CT also revealed left nasal meningo-encephalocele. The eye with the mass was excised. The histopathologic report confirmed the diagnosis of corneal dermoid in an otherwise normally developed eye. This report of a huge dermoid involving the entire corneal diameter and extending into the sclera without ocular alteration posterior to Descemet's membrane is the first such report in the literature. The literature on corneal dermoids is also reviewed.

Oculo-ectodermal syndrome: report of two further cases.

We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as a distinct entity.

Imaging of the pediatric orbit.

This article addresses the embryology of the eye, the imaging of common congenital malformations involving the globe, and imaging features of common retro-ocular masses. Clinical entities resulting in alterations in the size and contour, and those producing leukokoria, also are discussed.

Isolated pedunculated congenital corneal dermoid.

PURPOSE: To investigate a case of isolated pedunculated congenital corneal dermoid. METHODS: Case report. RESULTS: In a 14-day-old infant, the pedunculated portion of the dermoid was removed and confirmed by histopathologic examination. No surgical complication or recurrence was encountered, and the patient is waiting for a rotational autokeratoplasty. CONCLUSIONS: Prompt treatment of such an unusual tumor is important to allow for visual rehabilitation and development.

Congenital ocular anomalies and ventricular septal defect in a dromedary camel (Camelus dromedarius).

A 5-wk-old female dromedary camel (Camelus dromedarius) was clinically diagnosed with bilateral corneal dermoids, incomplete congenital cataracts, a left persistent hyaloid artery (PHA), and a ventricular septal defect (VSD). The corneal dermoids were removed by lamellar keratectomy, and vision improved in the left eye. Thirteen months after dermoid surgery, the calf was presented for enlargement of the right eye. Glaucoma was confirmed in the right eye, and corneal fibrosis and cataract were noted in the left eye. Persistence of the VSD was confirmed by cardiac ultrasonography. The calf was euthanized, and necropsy findings confirmed VSD. Histopathologic examination revealed bilateral corneal thinning and fibrosis, cataracts with retrolental fibroplasia, and retinal dysplasia. Additional changes in the right globe were anterior segment dysgenesis, ruptured lens capsule, chronic phacoclastic uveitis, and retinal separation. The PHA was confirmed in the left eye.