[Rubinstein-Taybi syndrome with multiple keloids].
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.
D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D005260:Female; D006801:Humans; D007627:Keloid / Q000209:etiology* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000473:pathology
Syndrome de Rubinstein-Taybi à chéloïdes multiples.