Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.

Dowling-Degos disease (DDD) is an autosomal dominant pigmentary disorder characterized by reticular hyperpigmentation, hypopigmentation, and hyperkeratotic papules of the flexures, including the neck, axillae, antecubital fossae, inframammary area and groin, and acral sites typically presenting between ages 20 and 50.1 The clinical presentation is variable and is partly attributable to mutations causing DDD, including loss-of-function mutations in KRT5, POGLUT1, or POFUT1, involved in melanin synthesis and transport.