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.

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.

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.

Oculo-ectodermal syndrome: a new case.

We report on a girl with aplasia cutis congenita, epibulbar dermoids, and macrocephaly. To our opinion she has the same ocular-ectodermal syndrome as described by Toriello et al. [Am J Med Genet 45: 764-766, 1993].

Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome.

We have investigated 2 young South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. This unique association of anomalies was first documented in two unrelated boys by Toriello et al. [1993: Am. J. Med. Genet. 45:764-766]. Our clinical and histological findings are markedly similar, and we think this to be the second report of individuals with this rare syndrome.

Bone formation in association with a limbal dermoid.

A healthy female infant was born with a unilateral limbal dermoid. When the lesion was surgically excised, a plaque of bone was found under the scleral portion of the lesion. The occurrence of bone in ocular dermoinds is extremely uncommon and, to our knowledge, has been reported only twice in dermoids that occur in epibulbar locations away from the limbus.

Bilateral, congenital, dermis-like choristomas overlying corneal staphylomas.

Two unrelated patients with diffuse, bilateral, congenital tumefactions overlying the corneas were seen. The tumors were protuberant, fleshy masses that partially concealed underlying corneal staphylomas. Spontaneous rupture was suspected in one eye. Histopathologic study of three specimens disclosed dermis-like tumors. In one specimen, an apocrine gland was identified, thus supporting the diagnosis of choristoma. An evisceration specimen from a ruptured globe confirmed that the ectatic cornea was an anterior staphyloma. The posterior pole seemed grossly normal. This disorder may have a genetic basis or it may result from a developmental or inflammatory insult in utero. Preoperative diagnosis is important because the associated anterior staphylomas complicate management.

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.

Orbital melanocytic hamartoma.

A male Chinese neonate had a melanocytic hamartoma that involved the entire orbit and the eye, but did not involve the orbital bones or eyelid skin. Although usually benign, these hamartomas may be locally invasive, and rare cases of malignant transformation have occurred.

Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder.

A sibship of a brother and sister with congenital bilateral pseudoglioma is described. The most prominent abnormality was a greyish-white vascularised mass in the retrolental spaces, which was noted as early as the first weeks of life. Corneal opacities, posterior synechiae, and complicated cataracts developed within 1 to 2 years age. The sibship showed normal chromosomes and had no systemic disorders, including mental and hearing impairment. The parents and other relatives were normal. Autosomal recessive disease, rather than Norrie's disease, was the most probable explanation for the dysplasia of the vitreous and retina in the sibship. This is probably the third report of familial occurrence with autosomal recessively inherited vitreoretinal dysplasia without systemic anomalies. The importance of the disease in genetic counselling is discussed.

Iris melanoma in ocular melanocytosis.

A pigmented, circumscribed iris lesion thought to be a nevus was noted in the right eye of a 64-year-old man with congenital ocular melanocytosis. Although the patient had excess episcleral and choroidal pigmentation, the iris in the affected eye was blue. Two years later, growth was documented, suggesting that the lesion was malignant. The tumor was resected by a sector iridectomy and studied by light microscopy. Histopathologically, the tumor was shown to be a malignant melanoma of the mixed-cell type. No evidence of congenital melanocytosis was found in the adjoining normal iris. This is a well-documented case of a malignant melanoma of the iris arising in a blue, uninvolved iris in a patient with sectoral congenital ocular melanocytosis. Although this specific association has not been previously reported, we believe that any pigmented uveal tumor occurring in the setting of congenital ocular melanocytosis should be observed closely for growth that can signal malignant transformation.

Encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The cutaneous lesions are confined to the head. The central nervous system lesions consist in part of cerebral hemiatrophy, porencephaly, and defective opercularization of the insula. The intracranial lesions and clinical symptomatology are progressive, and appear, in part, to have a vascular pathogenesis. This suggests that a primary defect in the formation of tissues derived from embryonic mesenchyme may be responsible for the syndrome and that tissues derived from ectoderm may be secondarily affected.

Ocular tumors in children.

This article presents clinically relevant information on a variety of ocular tumors of particular importance to pediatricians. Awareness of the more common, more serious ocular tumors and early recognition of the symptoms and signs they produce are the keys to appropriate further evaluation, referral, and management.

Glaucoma in children.

Successful management of glaucoma to prevent blindness depends upon early recognition of the condition. This article details the early signs and symptoms of glaucoma so that prompt referral for care and treatment may be facilitated.

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.

Ocular dermoids.

The following types of ocular dermoids were seen in a retrospective study of 50 children with these lesions: 34 epibulbar dermoids, 12 lipodermoids, and 4 dermoid cysts. Forty-six percent had hemifacial microsomia, and one-half of these had additional stigmata of the Goldenhar variant of the syndrome. Ninety-seven percent of the dermoids were found in the temporal half of the globe; of these, 76 percent were in the inferolateral quadrant, straddling the corneoscleral limbus. The majority of children had an oblique astigmatism in the involved eye. Epibulbar dermoids may be removed by careful superficial keratectomy, but caution should be exerted in excising lipodermoids because of the risks of affecting ocular motility and tear secretion.

Congenital intraocular melanoma in a calf.

A congenital benign intraocular melanoma was the cause of extreme buphthalmos in the enucleated right eye of a 7-day-old Charolais-cross calf. The tumour was well differentiated with rare mitotic figures and no evidence of extrascleral nor vascular invasion. Congenital intraocular tumours occur rarely in animals and man. There was no evidence of malignancy when the calf was slaughtered 9 months after the enucleation.

Central corneal dermoid: a clinicopathologic correlation and review of the literature.

The authors present a clinicopathologic correlation of a central corneal dermoid removed from a one-year-old child. Contrary to the initial clinical impression, the tumour involved the full thickness of the corneal stroma, necessitating a penetrating keratoplasty. After the graft became opaque, a second penetrating keratoplasty was required. In spite of the fact that the eye has remained amblyopic, its cosmetic appearance is excellent. Problems related to the management of central corneal dermoids are discussed.

Anterior chamber metastasis from neuroblastoma.

An apparently normal 10-day-old girl had, since birth, a gray-white vascularized tumor in the inferior quadrants of the right anterior chamber. General physical examination revealed abdominal distension, hepatomegaly, splenomegaly, and a deeply located abdominal mass. Multiple subcutaneous nodules scattered all around the body's surface could be palpated. Surgical exploration confirmed the presence of a left adrenal neuroblastoma. Six months after a complete resection of the abdominal tumor and general radiotherapy and chemotherapy, the right anterior chamber mass regressed almost completely, leaving only a calcified residue. The child is living and well six years after the diagnosis of neuroblastoma. This is the first case known to us in the literature of a congenital anterior chamber metastasis, as well as the first case reported of an anterior segment metastasis from a neuroblastoma.

Congenital retinoblastoma: a case report.

Retinoblastoma is usually diagnosed during the first three years of life, with an average age of diagnosis of 18 months. It is almost never found at birth except when there is a positive family history which prompts an early fundus examination. We report a case of unilateral nonfamilial retinoblastoma which was so advanced at birth that it had already produced a perforated globe. Despite enucleation, radiation, and chemotherapy, massive orbital recurrence developed which necessitated a modified orbital exenteration. In spite of this aggressive therapy the child died of metastatic retinoblastoma at age eight months.