[Rubinstein-Taybi syndrome with multiple keloids].

A Sammartino, R Cerbella, G Lembo, A Federico, L Loffredo
Author Information

Abstract

The authors report an unusual case of Rubinstein-Taybi Syndrome, in which alterations such as blepharoptosis, unilateral microphthalmia, bilateral and inferior iris, lens, and choroidal colobomas and unilateral optic nerve pit are present in addition to apparently spontaneous multiple keloids. A histopathological study of the skin and a culture of fibroblasts have pointed out a reduction of the cell duplication time.

MeSH Term

Abnormalities, Multiple
Adolescent
Female
Humans
Keloid
Pedigree
Phenotype
Rubinstein-Taybi Syndrome

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Created with Highcharts 10.0.0unilateralmultipleauthorsreportunusualcaseRubinstein-TaybiSyndromealterationsblepharoptosismicrophthalmiabilateralinferioririslenschoroidalcolobomasopticnervepitpresentadditionapparentlyspontaneouskeloidshistopathologicalstudyskinculturefibroblastspointedreductioncellduplicationtime[Rubinstein-Taybisyndromekeloids]

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