Double Jeopardy: The Rubber Ball Bounces Twice

Jack L Arbiser; Linda C Gilbert

doi:10.1016/j.jid.2016.08.011

Double Jeopardy: The Rubber Ball Bounces Twice

J Invest Dermatol. 2017 Jan;137(1):15-17. doi: 10.1016/j.jid.2016.08.011.

Authors

Jack L Arbiser¹, Linda C Gilbert²

Affiliations

¹ Department of Dermatology, Emory University School of Medicine, Atlanta Veterans Administration Medical Center, Winship Cancer Institute, Atlanta, Georgia, USA. Electronic address: jarbise@emory.edu.
² Department of Dermatology, Emory University School of Medicine, Atlanta Veterans Administration Medical Center, Winship Cancer Institute, Atlanta, Georgia, USA.

PMID: 28010758
DOI: 10.1016/j.jid.2016.08.011

Abstract

Soblet et al. describe cis mutations in TEK/Tie-2 in blue rubber bleb nevus and sporadic vascular malformations. This suggests that the remaining normal allele is required for the phenotype. Second, it suggests therapeutic approaches to treatment signal transduction inhibition.

Publication types

Comparative Study
Review
Comment

MeSH terms

Adult
Alleles
Gastrointestinal Neoplasms / genetics*
Gastrointestinal Neoplasms / pathology
Hemangioma, Capillary / genetics
Hemangioma, Capillary / pathology
Humans
Infant
Microtubule Proteins / genetics*
Mutation
Nevus, Blue / genetics*
Nevus, Blue / pathology
Phenotype
Sensitivity and Specificity
Skin Neoplasms / genetics*
Skin Neoplasms / pathology
Suppressor of Cytokine Signaling Proteins / genetics*

Substances

Microtubule Proteins
Suppressor of Cytokine Signaling Proteins
cytokine inducible SH2-containing protein
tektins

Supplementary concepts

Blue rubber bleb nevus syndrome