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Rubinstein-Taybi syndrome with epidermal nevus: a case report
- Source :
- Pediatric dermatology. 18(1)
- Publication Year :
- 2001
-
Abstract
- We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.
- Subjects :
- Male
Rubinstein-Taybi Syndrome
Pathology
medicine.medical_specialty
Leg
Skin Neoplasms
Rubinstein–Taybi syndrome
business.industry
Peculiar facies
Multiple congenital anomaly
Dermatology
Epidermal nevus syndrome
medicine.disease
Epidermal nevus
Transcriptional Coactivator
Pediatrics, Perinatology and Child Health
medicine
Humans
Congenital disease
business
Child
Nevus
Subjects
Details
- ISSN :
- 07368046
- Volume :
- 18
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Pediatric dermatology
- Accession number :
- edsair.doi.dedup.....13ecdab56e2b044078f7199480c0357f