Anterior orbit and adnexal amyloidosis

To describe six cases of anterior orbital and adnexal amyloidosis and to report on proteomic analysis to characterize the nature of amyloid in archived biopsies in two cases. The clinical features, radiological findings, pathology, and outcome of six patients with anterior orbit and adnexal amyloidosis were retrieved from the medical records. The biochemical nature of the amyloid was determined using liquid chromatography/mass spectroscopy archived paraffin-embedded tissue in two cases. Of the six cases, three had unilateral localized anterior orbit and lacrimal gland involvement. Four of the six patients were female with an average duration of 12.8 years from the time of onset to presentation eyelid infiltration by amyloid caused ptosis in five cases. CT scan in patients with lacrimal gland involvement [n = 3] demonstrated calcified deformable anterior orbital masses and on pathological exmaintionamyloid and calcific deposits replaced the lacrimal gland acini. Ptosis repair was performed in three patients with good outcomes. One patient required repeated debulking of the mass and one patient had recurrenct disease. Proteomic analysis revealed polyclonal IgG-associated amyloid deposition in one patient and AL kappa amyloid in the second patient. Amyloidosis of the anterior orbit and lacrimal gland can present with a wide spectrum of findings with good outcomes after surgical excision. The nature of amyloid material can be precisely determined in archival pathology blocks using diagnostic proteomic analysis

Primary orbital liposarcoma: histopathologic report of two cases

Liposarcoma is a malignant tumor of adipose tissue. Considered the most common soft tissue sarcoma in adults, orbital liposarcoma is extremely rare. Most cases of orbital liposarcoma are primary and rarely metastatic. We report two cases of primary orbital liposarcoma with clinical presentation, radiologic studies [available for one case], and detailed histopathologic features. A brief review of primary orbital liposarcoma is also presented

Noonan syndrome with features of neurofibromatosis type 1: a case report

To present a child who developed bilateral Lisch nodules 3 years after he had been diagnosed to have Noonan syndrome. Patient evaluation included: complete general and ophthalmic examination, and imaging studies. Bilateral Lisch nodules raised the possibility of neurofibromatosis-Noonan syndrome in an 8-year-old Saudi boy, diagnosed previously to have Noonan syndrome. Signs of neurofibromatosis may appear years after the diagnosis of Noonan syndrome. This mandates periodic ophthalmic evaluation as the ophthalmologist may find the first clue for diagnosing neurofibromatosis-Noonan syndrome

Noonan syndrome with features of neurofibromatosis type 1: a case report

To present a child who developed bilateral Lisch nodules 3 years after he had been diagnosed to have Noonan syndrome. Patient evaluation included: complete general and ophthalmic examination, and imaging studies. Bilateral Lisch nodules raised the possibility of neurofibromatosis-Noonan syndrome in an 8-year-old Saudi boy, diagnosed previously to have Noonan syndrome. Signs of neurofibromatosis may appear years after the diagnosis of Noonan syndrome. This mandates periodic ophthalmic evaluation as the ophthalmologist may find the first clue for diagnosing neurofibromatosis-Noonan syndrome