Cole disease

Definition:

Cole disease is a rare autosomal-dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), are associated with Cole disease. ENPP1 catalyzes the hydrolysis of ATP to AMP and generates extracellular inorganic pyrophosphate.

References:

[1]. Megan M Moore, et al. Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. Arch Dermatol. 2009 Apr;145(4):495-7. [Content Brief]

[2]. Ori Eytan, et al. Cole Disease Results from Mutations in ENPP1. Am J Hum Genet. 2013 Oct 3;93(4):752-7. [Content Brief]

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