Resumen

MANCHA, Dora; PIMENTA, Rita; SOARES-DE-ALMEIDA, Luís  y  FILIPE, Paulo. Mutation of POGLUT1 in Galli-Galli disease: clinical, dermoscopy, and histopathology for the diagnosis. Port J Dermatol Venereol. [online]. 2024, vol.82, n.2, pp.117-121.  Epub 17-Mayo-2024. ISSN 2795-501X.  https://doi.org/10.24875/pjdv.23000109.

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.

Palabras clave : Acantholysis; Dowling-Degos; Galli-Galli; Genodermatosis; Hyperpigmentation; Reticulated.

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