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.
| Original language | English |
|---|---|
| Pages (from-to) | 34-37 |
| Number of pages | 4 |
| Journal | Pediatric Dermatology |
| Volume | 18 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2001 |
Fingerprint
ASJC Scopus subject areas
- Dermatology
- Pediatrics, Perinatology, and Child Health
Cite this
Rubinstein-Taybi syndrome with epidermal nevus : A case report. / Schepis, Carmelo; Greco, Donatella; Siragusa, Maddalena; Batolo, Dario; Romano, Corrado.
In: Pediatric Dermatology, Vol. 18, No. 1, 2001, p. 34-37.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Rubinstein-Taybi syndrome with epidermal nevus
T2 - A case report
AU - Schepis, Carmelo
AU - Greco, Donatella
AU - Siragusa, Maddalena
AU - Batolo, Dario
AU - Romano, Corrado
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0035113786&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035113786&partnerID=8YFLogxK
U2 - 10.1046/j.1525-1470.2001.018001034.x
DO - 10.1046/j.1525-1470.2001.018001034.x
M3 - Article
C2 - 11207968
AN - SCOPUS:0035113786
VL - 18
SP - 34
EP - 37
JO - Pediatric Dermatology
JF - Pediatric Dermatology
SN - 0736-8046
IS - 1
ER -