Fibrous tumor of the superior oblique tendon in Proteus syndrome.

[proteus syndrome]

Proteus syndrome is a disorder of patchy , or mosaic , postnatal overgrowth . Mosaic somatic mutation of the AKT 1 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 .

Diseases
Validation

Diseases presenting "central nervous system" symptom

22q11.2 deletion syndrome

adrenomyeloneuropathy

alexander disease

aniridia

aromatase deficiency

canavan disease

child syndrome

classical phenylketonuria

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cystinuria

dracunculiasis

erdheim-chester disease

fabry disease

gm1 gangliosidosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

kabuki syndrome

kallmann syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

legionellosis

liposarcoma

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

proteus syndrome

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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