Rubinstein-Taybi syndrome with epidermal nevus: A case report

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)34-37
Number of pages4
JournalPediatric Dermatology
Volume18
Issue number1
DOIs
Publication statusPublished - 2001

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Rubinstein-Taybi Syndrome
Intellectual Disability
CREB-Binding Protein
Hallux
Thumb
Histology
Mutation
Epidermal Nevus

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 journalArticle

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