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

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

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.
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PMID:Pathology of osseous and genitourinary lesions of Proteus syndrome. 810 99

We report on the ocular manifestations of a Proteus syndrome patient. Several of the manifestations are due to severe maldevelopment and malfunction of the neuroretina including strabismus, nystagmus, high myopia, and retinal pigmentary abnormalities. In reviewing the literature, strabismus and epibulbar tumors were recorded most commonly. Some articles about presumed Proteus syndrome are spurious; these have not been included here. Also, because of anecdotal and nonsystematic study of the eye and because of the ascertainment bias inherent in literature reports, numbers of cases of each ocular manifestation have not been tabulated.
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PMID:Ocular manifestations in Proteus syndrome. 1086 66

Proteus syndrome is a disorder of patchy, or mosaic, postnatal overgrowth. Mosaic somatic mutation of the AKT1 gene has been identified in over 90% of individuals meeting the diagnostic criteria for Proteus syndrome. Onset occurs in infancy and can involve any tissue of the body. The connective tissue and bone, skin, central nervous system, and the eye are commonly involved. Epibulbar tumors, strabismus, and posterior segment involvement have previously been reported. However, there have not been any reports of lesions affecting the extraocular tendons. We report a case of Proteus syndrome patient presenting with vertical strabismus secondary to a fibrous tumor within the superior oblique tendon. The tumor was successfully excised with complete resolution of the strabismus.
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PMID:Fibrous tumor of the superior oblique tendon in Proteus syndrome. 2389 65