- 2024, Volume 82 - Number 2
- Published: May 20, 2024
Mutation of POGLUT1 in Galli-Galli disease: clinical, dermoscopy, and histopathology for the diagnosis
Dora Mancha 1, Rita Pimenta 2, Luís Soares-de-Almeida 3, Paulo L. Filipe 4
1 Department of Dermatology, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal; Dermatology University Clinic, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal; 2 Department of Dermatology, Hospital Garcia de Orta E.P.E., Almada, Portugal; 3 Dermatology and Venereology Department, Hospital de Santa Maria, Unidade Local de Saúde Santa Maria; Dermatology and Venereology University Clinic, Faculty of Medicine, University of Lisbon; Dermatology Research Unit, iMM João Lobo Antunes, University of Lisbon. Lisbon, Portugal; 4 Department of Dermatology and Venereology, Unidade Local de Saúde Santa Maria; Faculdade de Medicina da Universidade de Lisboa, Dermatology Clinic. Lisbon, Portugal
Dora Mancha, Rita Pimenta, Luís Soares-de-Almeida, Paulo L. Filipe
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Dora Mancha, Email not available
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.
