Encephalocraniocutaneous lipomatosis: a case report and review of the literature.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcification of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcification, and lipomas. The constellation of these clinical and the imaging findings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.

Spontaneous expulsion of lacrimal gland ductule stones by eyelid squeezing: a rare event.

PURPOSE: To report a rare case of lacrimal gland ductule stones. METHODS: Case report. RESULTS: A 12-year-old female patient presented with pain, redness and swelling in the superotemporal fornix of the left eye of 1-week duration. She had experienced four similar episodes over a period of 2 years. Clinical evaluation revealed a mass adjacent to the lacrimal gland and some stone edges protruding through the lacrimal gland ductules. During preparation for their mechanical removal, a spontaneous expulsion of stones occurred. Microbiological examination of stones did not show any microorganism or nidus such as cilia. Fourier transform infrared spectroscopy revealed the stones to be composed of calcium carbonate 90% and magnesium hydrogen phosphates 10%. After spontaneous expulsion, the condition subsided without any complications. CONCLUSION: Lacrimal gland stones represent a very rare clinical entity and this should be considered in the differential diagnosis of recurrent nonspecific conjunctivitis and dacryoadenitis.

Acute suppurative bacterial dacryoadenitis: a rare case report.

PURPOSE: To describe a case of lacrimal gland abscess. METHODS: Case report. RESULTS: An 11-year-old boy with respiratory tract infection presented acutely with an enlarging, painful mass in the superotemporal fornix in his left eye. Clinical evaluation and computerized tomography scan of the orbit revealed a lacrimal gland abscess. Conjunctival swab and sputum grew Klebsiella pneumoniae. The child was treated with intravenous amikacin. CONCLUSIONS: Lacrimal gland abscess is a rare clinical entity. To our knowledge, this is the first reported case of Klebsiella pneumoniae-associated dacryoadenitis complicated by lacrimal gland abscess formation in a pediatric patient.

Huge malignant melanoma of caruncle with extensive involvement of conjunctiva.

The caruncle is nodular structure lying at internal canthus medial to plica semilunaris. It is composed of elements of conjunctiva, cutaneous and lacrimal tissue. In spite of its diverse histopathology, lesions of caruncle are rare and malignant melanoma is further rarer. This tumour is potentially lethal, even after prompt and proper treatment, especially after delayed onset of therapy. Clinical metastases usually occur first to the lymph nodes in approximately 45% to 60% of patients with regional metastases. Eventually systemic dissemination may occur to lung, brain, liver, skin, bone and the gastrointestinal tract, although this often arises without prior clinical evidence of regional lymph node involvement. Here a rare case of huge malignant melanoma of caruncle with extensive involvement of plica semilunaris, fornix and palpebral conjuctiva in a 58-years old male is reported who was treated with local excision combined with cryotherapy and topical 0.02% mitomycin-C eye drops.

Ocular manifestations in the Hutchinson-Gilford progeria syndrome.

The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning 'prematurely old'. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2) and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.