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Case Reports
. 2020 Sep;37(5):868-871.
doi: 10.1111/pde.14222. Epub 2020 Jun 29.

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

Niña Gabaton  1 , Peter Kannu  2 , Elena Pope  1 , Andrea Shugar  2 , Irene Lara-Corrales  1
Affiliations
Case Reports

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

Niña Gabaton et al. Pediatr Dermatol. 2020 Sep.

Abstract

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.

Keywords: Cole disease; ENPP1 mutation; genodermatosis.

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References

REFERENCES

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