Ocular Manifestations and Histologic Characteristics of Keratitis-Ichthyosis-Deafness (KID) Syndrome

PURPOSE: Keratitis-ichthyosis-deafness (KID) syndrome is a congenital ectodermal disorder presenting the triad of vascularizing keratitis, erythrokeratoderma, and sensorineural deafness. Ocular manifestations such as hyperkeratinization of the eyelids, loss of eyelashes, keratoconjunctivitis sicca, corneal erosions, ulceration, neovascularization, and scarring opacity may be absent or mild, but if present and severe, they can lead to major visual loss. We report a patient with KID syndrome with severe ocular manifestations and the histologic characteristics of a corneal lesion. CASE SUMMARY: A 5-year-old boy was referred to the Ophthalmology Department for bilateral hyperkeratinization of eyelids, bare eyelashes, and corneal opacity. He showed hyperkeratotic skin lesions and sensorineural hearing loss. Molecular analysis showed a mutation in the GJB2 gene and confirmed the diagnosis of KID syndrome. Initial conservative treatment did not preserve ocular surface integrity, and instead it was maintained by surgical procedures including superficial lamellar keratectomy with amniotic membrane transplantation. The histologic characteristics of corneal lesions are abnormal epithelial differentiation, absence of connexin 26 expression, and partial destruction of the basement membrane.

Non-neoplastic Lesions in Temporal Lobe Epilepsy: A Pathologic Review of 64 cases

Temporal lobe epilepsy is characterized by complex partial seizures with either primary intracranial neoplasms or other non-neoplastic lesions. We reviewed 64 cases of surgically resected temporal lobes and amygdalo-hippocampal regions for temporal lobe epilepsy ansed by non-neoplastic lesions to elucidate the incidence and histologic features of each histologic group for a period of 2 years. The patient's age ranged from 12 to 49 years and the ratio of male to female was 42:22. There were 37 cases(57.8%) with single pathology and an additional 20 cases(31.3%) with dual pathology. The emaining 7 cases(10.9%) had no structural alternations. The most common temporal lobe pathology was hippocampal sclerosis in 41 cases(64.1%), diagnosed alone in 21 cases and as dual lesions in 20 cases. The hippocampal neuron loss was most pro,omemt in CA1, followed by CA4, CA3, and CA2. Amygdaloid sclerosis was present in 28 cases(43.8%), lases had 13 dual lesions, 25 cases also had hippocampal sclerosis. The 20 dual lesions showed that 6 cortical dysplasia, 10 microdysgenesis, 1 chronic non-specific inflammatory lesion, and 3 cysticercosis were associated with the various degree of mesial temporal sclerosis. Neuronoglial malformative lesions were identified in 21 cases(32.8%) including 16 dual lesion cases, which composed of 15 microdysgenesis and 6 cortical dysplasia. Neurofilament immunostain for cortical dysplasia revealed abnormally beaded disarray of axons in dysplastic pyramidal cells. The remaining pathologic lesions observed were 1 cysticercosis, 1 chronic non-specific inflammatory lesion, 3 arteriovenous malformation, 2 fibrous nodule, and 1 fibrous adhesions of the arachnoid.

Histopathological Analysis of Posterior Fossa Tumor

The posterior fossa, containing roughly 6ne fourth of the intracranial contents, is the site of about 30-35% of the intracranial tumors. The incidence of primary tumors in the posterior fossa is quite different from that of the cerebivm. We analysed 124 cases of posterior fossa tumor, over a 10 year period, to understand the status of posterior fossa tumor and its histologic characteristics. Medulloblastoma was most common(37cases, 29.8%), followed by astrocytoma, hemangiobla-stoma, ependymoma, meningioma, metastatic tumor, arteriovenous malformation and choroid plexus papilloma in descending order of frequency. Tumors were found most frequently between the ages of two and ten years(28.2%) and sixty seven(54.0%) cases were diagnosed before the age of fifteen. The ratio of male to female was 60 : 64. Astrocytoma revealed a characteristic juvenile pilocytic type and a microcystic change. Hemangioblastoma showed higher frequency(17.7%) than previous reports and the origin of tumor cells is still equivocal. Other tumors revealed the same histologic features as other intracranial tumors.

Peripheral T-cell lymphomas-clinicopathologic and immunophenotypic analysis of 25 cases

The clinicopathologic and immunophenotypic findings of 25 cases of peripheral T-cell lymphoma in Korea were analysed. Seventeen cases (68%) of the 25 T-cell lymphomas presented in the extranodal sites including the nasal mucosa, tonsil, oral cavity, skin and rarely bone, mediastinum and breast. Immunologic studies showed that 12 cases (48%) of the lymphomas were of T-helper phenotype, 5 cases (20%) were of cytotoxic/suppressor phenotype, 1 case (4%) expressed both helper and cytotoxic/suppressor markers, and 7 cases (28%) lacked detectable markers for subsets. Histologically, fourteen cases (56%) showed histologic features suggestive of peripheral T-cell lymphoma. The more frequently seen histologic types by Working Formulation (WF) included large cell type and immunoblastic type. Classification by WF was straightforward in most cases of large cell, immunoblastic type. However, with some cases of small cell, large cell and mixed types, there were problems fitting the morphology seen into the WF category. We hope that the establishment of a world wide immunologic and clinicopathologic classification for peripheral T-cell lymphoma will be made in the near future.