Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Disorders of pigmentation can result from either an abnormal number of melanocytes, as in nevus of Ota and vitiligo, or an abnormal amount of melanin production, as in albinism. Melanin-producing cells are found in the skin, mucous membranes, uveal tract, and retinal pigment epithelium of the eye and the stria vascularis of the inner ear. Thus, many of the hereditary or congenital pigmentary disorders of the skin are associated with similar pigmentary abnormalities in the eye, such as iris heterochromia or changes in pigmentation of the fundus; however, more commonly, the associated eye finding is a defect in ocular motility, i.e., strabismus and nystagmus, suggesting a concomitant defect in neurologic development. In albinos, the observed neurologic abnormality in the visual pathway and foveal hypoplasia are hypothesized to be related directly to the lack of melanin in the pigment epithelium during development. In acquired disorders of pigmentation, in particular, vitiligo, Vogt-Koyanagi-Harada syndrome, and onchocerciasis, there is a frequent association with uveitis, suggesting an inflammatory cause for the cutaneous pigmentary changes.
 ...
PMID:Ocular manifestations of pigmentary disorders. 161 18

A clinically benign appearing nevus was surgically excised from the conjunctiva of a 13-year-old girl because of complaints that it had recently enlarged. Histologically, the melanocytic lesion displayed considerable cytologic atypia and showed signs that were consistent with malignant transformation. Because of the rarity of conjunctival melanomas in children, the case was reviewed by several experienced pathologists and dermatopathologists whose diagnoses ranged from benign nevus with atypia to malignant melanoma. When the biologic potential of certain melanocytic lesions cannot be accurately predicted histologically, treatment and follow up must be individualized. Physicians must weigh the perceived risks and disadvantages of treating a histologically indeterminate tumor against the consequences of "under" treatment if the lesion is, in fact, biologically malignant.
J Pediatr Ophthalmol Strabismus
PMID:Borderline melanocytic tumor of the conjunctiva: diagnostic and therapeutic considerations. 195 62

Familial odontogenic keratocysts are described in this report. The Case 1 patient, who has 3 sisters, developed odontogenic keratocysts. The 2 younger sisters (Cases 2 and 3) also had odontogenic keratocysts, although the elder sister did not have any odontogenic cysts. The father of the patients had a history of removal of a jaw cyst, and the mother was found later to have malignant ameloblastoma. Besides the odontogenic keratocysts, the Case 1 patient had basal cell nevus, prominent frontal process, and ocular hypertelorism; the Case 2 patient had prominent frontal process; the Case 3 patient had prominent frontal process, ocular hypertelorism, and squint. All 3 sisters are suspected of being patients with the basal cell nevus syndrome. The Japanese dental literature concerning the basal cell nevus syndrome is reviewed.
 ...
PMID:Familial odontogenic keratocysts. Report of 3 cases and review of Japanese dental literature. 258 Aug 7

We studied by light and electron microscopy the diffuse iris nevus of an eye in a 16-year-old patient with oculodermal melanocytosis and choroidal malignant melanoma. The nevus cells in the anterior border layer of the iris appeared to be poorly differentiated, showing moderate infolding of the nuclear membrane with heterochromatin clumping, watery cytoplasm, abundant mitochondria, fine filaments, rough endoplasmic reticulum, and numerous pinocytotic vesicles. Small scattered immature melanosomes and occasional giant melanosomes were observed in these cells. Deep in the iris stroma, however, nevus cells were found singly or in small groups, and were associated with an increasing number of melanized melanosomes and cytoplasmic filaments and reduced numbers of other cytoplasmic organelles, such as mitochondria and free ribosomes. Differentiation of the iris nevus cells appeared to progress from the anterior border layer toward the iris stroma. This observation suggests that intrastromal nevi may be more benign than nevi with surface plaque. The ultrastructural characteristics of the diffuse nevi of oculodermal melanocytosis were compared with those of other iris nevi.
J Pediatr Ophthalmol Strabismus
PMID:Diffuse iris nevus in oculodermal melanocytosis: a light and electron microscopic study. 279 14

Proteus syndrome is a recently recognized hamartoneoplastic malformation syndrome of uncertain etiology and variable expression, whose cardinal manifestations are pigmented nevi, hemihypertrophy, macrodactly, lipomata, and cerebroid-gyriform configuration of the skin on the soles of the feet. The characteristic features may be present at birth but become more apparent with time. In the past this syndrome has been confused with other overgrowth disorders such as neurofibromatosis, Klippel-Trenaunay-Weber syndrome, Maffucci syndrome, and Bannayan syndrome. The ophthalmic features of the proteus syndrome require clarification. We review the ocular findings in 16 previously described cases and describe the findings unique to our patient, in particular, unilateral epibulbar and suspected posterior segment hamartomas.
J Pediatr Ophthalmol Strabismus
PMID:Proteus syndrome: ocular complications. 328 59

Two cases of cutis marmorata telangiectatica congenita are described in association with nevus flammeus and congenital glaucoma. Approximately 65 cases have been reported and the association with nevus flammeus and congenital glaucoma has only been reported in one of those cases. Unlike the glaucoma associated with nevus flammeus of Sturge-Weber, this type of congenital glaucoma appears to be associated with an abnormal filtration angle rather than an increased episcleral venous pressure.
J Pediatr Ophthalmol Strabismus
PMID:Congenital glaucoma associated with cutis marmorata telangiectatica congenita: two case reports. 213 63

The histopathology of 282 consecutive clinically diagnosed epibulbar tumors excised from children age 15 years and younger was reviewed at a major ophthalmic hospital over a 20-year period. The most common epibulbar tumors of childhood are nevi, choristomas, epithelial inclusion cysts, and papillomas. There was only one malignant tumor among the 282 orbital tumors of childhood.
J Pediatr Ophthalmol Strabismus
PMID:Epibulbar tumors in children: a survey of 282 biopsies. 368 13

Large congenital melanocytic nevi (CMN) are cutaneous malformations of neural crest origin that have a notorious reputation because of their reported propensity to undergo malignant degeneration. Traditionally, complete surgical excision has been advocated based on the premise that large CMN are a precursor to melanoma. Two cases of large periocular CMN are reported to emphasize the importance of distinguishing them from other congenital skin lesions. Data from the literature support the contention that these pigmented skin lesions spawn malignancies and that prophylactic therapy may be indicated.
J Pediatr Ophthalmol Strabismus
PMID:Periocular congenital melanocytic nevi. 377 89

A male patient followed from the age of 3 to 25 years was eventually diagnosed as having Proteus syndrome. He was born with linear epidermal nevi of the neck and forearm and presented with macrodactyly of the right hand and progressive hemihypertrophy of the right lower limb recurring after multiple reduction operations. The bone ends showed disorderly overgrowth of hyaline and fibrocartilage mixed with collagen and bone, and early differential diagnoses included Ollier's disease. The child also had vertebral anomalies, scoliosis, a bony protrusion of the cranial vertex, and strabismus. In the second decade he developed gyriform swelling of the soles, retinopathy, bilateral papillary cysts of the epididymis, and a giant cyst of the left kidney with complex glandular foci. At 22 years a 3-cm meningioma containing adipose tissue was resected, and at 24 years a 3-cm cellular nodule of the rete testis with hyperchromatic foci, probably an adenoma, was removed. The features of Proteus syndrome were those of hyperplasia and neoplasia of mostly mesodermal tissues. Unlike other reported cases, overgrowth of a finger recurred at 25 years.
 ...
PMID:Pathology of osseous and genitourinary lesions of Proteus syndrome. 810 99

A case of a 25-year-old female patient with reduction of visual acuity, strabismus convergence with corneal scars and paralimbal neovascularisation of her left eye with skin changes of linear skin naevus type is presented. The diagnosis of Jadassohn-Lewandowsky syndrome was based on characteristic skin and eye disturbances. There are also typical changes in mucous membranes and central nervous system. The treatment is difficult and a certain role may be played by cosmetic and repair surgery.
 ...
PMID:[A case of Jodassohn-Lewandowsky syndrome]. 921 1


1 2 3 Next >>