- 2022, Volume 80 - Number 1
- Published: May 16, 2022
Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
Diogo Cerejeira 1, Frederico Bonito 2, Cristina Ionel 3, Henriqueta Cunha 4, Pedro Pereira 3
1 Serviço de Dermatologia, Hospital Pedro Hispano, EPE, Matosinhos. Portugal; 2 Serviço de Dermatovenereologia, Unidade Local de Saúde de Almada-Seixal, Almada, Portugal; 3 Neurology Department. Hospital Garcia de Orta, EPE, Almada, Portugal; 4 Dermatology Department, Hospital Garcia de Orta, EPE, Almada, Portugal
Diogo Cerejeira, Frederico Bonito, Cristina Ionel, Henriqueta Cunha, Pedro Pereira
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Cristina Ionel, Email not available
Abstract
DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation. Dysfunction of this group of enzymes can lead to a variety of neurologically predominant clinical symptoms, including a stereotypic triad of sensory predominant neuropathy, sensorineural hearing loss, and cognitive decline. Herein, we report the case of a Portuguese patient who presented with recurrent acral ulcerations due to hypoalgesia and hypoesthesia, secondary to a novel heterozygous mutation [c.1718T>G (p.Val573Gly)] in DNA methyltransferase 1 gene.
