Work

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

Year: 2020

Type: article

Abstract: 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.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2020.02.016

Authors: Maija Kiuru, Jessica R. Terrell, Farzam Gorouhi, John D. McPherson

Institutions: University of California, Davis, Kaiser Permanente South Sacramento Medical Center

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600