Mutation of POGLUT1 in Galli-Galli disease: clinical, dermoscopy, and histopathology for the diagnosis

Abstract

Dowling-Degos disease (DDD) is an uncommon genodermatosis. The most closely associated disorder is Galli-Galli disease (GGD). Both conditions are considered on the same disease spectrum, with the differentiating factor being the presence of acantholysis in GGD. A 51-year-old female with a 21-year history of pruritic eruption in flexural areas progressing to the trunk and limbs presented to our dermatology consult. Physical examination revealed reddish-to-dark brown hyperkeratotic papules and reticulated confluent macules. Dermoscopy showed irregular star-shaped brown mottled areas and yellow-brown polygonal structures. Histopathology confirmed features consistent with GGD. Genetic screening identified a mutation in the POGLUT1 gene. Treatment with topical clobetasol propionate 0.05% and oral antihistamines decreased pruritus, but the skin eruption persisted. We present a rare case of GGD describing clinical, genetic, dermoscopy, and histopathological features. Clinicopathological correlation and good cooperation between dermatologists and histopathologists are essential to make the correct diagnosis of GGD.

Keywords

• Acantholysis. Dowling-Degos. Galli-Galli. Genodermatosis. Hyperpigmentation. Reticulated.