Skip to main content
padlock icon - secure page this page is secure

A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease

Buy Article:

$52.00 + tax (Refund Policy)

Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. We report a case of a 3‐year‐old boy of Italian ancestry who presented with hypopigmented skin patches on the upper extremities and multiple yellowish, firm papules and small plaques on his palms and soles. There were similar findings in the family, extending back at least four generations. Whole exome sequence analysis revealed a novel variant of the ENPP1 gene mutation, which has not been previously reported to be associated with Cole disease. Although there is no extracutaneous involvement associated with this condition, accurate diagnosis and variant identification is nevertheless important so that appropriate medical and genetic counseling can be offered to affected individuals and their at‐risk relatives.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: Cole disease; ENPP1 mutation; genodermatosis

Document Type: Research Article

Publication date: September 1, 2020

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more