Dados do Trabalho

Título

Preimplantation Genetic Screening in Darier-White Disease: A Case Report

Fundamentação/Introdução

Darier-White disease or Darier disease, also known as keratosis follicularis, is a rare genodermatosis with many degrees of severity and clinical manifestations. It is a genetic disorder with an autosomal dominant inheritance pattern, and it can be treated but not cured. The disease onset is usually before the third decade of life, with complete penetrance in adults and variable expression. Since this is a recurrent and long-term pathology, it could cause considerable social prejudice. This work aims to present a case report exploring the applicability of the preimplantation genetic diagnosisresources andassisted reproduction techniques to prevent the transmission of Darier-White disease to one’s descendants.

Objetivos

Darier-White disease is a rare genodermatosis with many degrees of severity and clinical manifestations that extend beyond the limits of the skin. It is a genetic disorder with an autosomal dominant inheritance pattern that can be treated, but not cured. Our work aims to report unpublished aspects on genetics and clinical presentation of Darier-White disease in Brazil, presenting a new genetic variant found in a female patient that has not been described so far. We also demonstrated the efficacy of the preimplantation genetic diagnosis along with techniques in assisted reproduction to with hold the occurrence of the Darier-White disease in future generations.

Delineamento e Métodos

Case Report

Resultados

Eleven ova were collected from the Darier-White disease patient, fertilized, and divided into four cycles over three years. On 12 July 2019, in São Paulo, Brazil, the patient gave birth to a healthy baby boy who does not have the disease.

Conclusões/Considerações Finais

Darier-White disease is a serious genetic disease with an autosomal dominant inheritance pattern, complete penetrance, and variable expressivity in adults, appearing in different degrees of severity, which could cause considerable physical, mental, and social prejudice. The transmission of this monogenic disease to future generations can be hampered with PGD, PGS, and assisted reproduction. Combined with a genogram, these techniques enabled us to track a new genetic mutation causative of Darier-White disease and select healthy embryos to ensure that the mutated cell lineage could be controlled in this family, and prevented in their subsequent offspring. One of the significant advances of personalized medicine is the possibility of avoiding incurable diseases, which has successfully been achieved in this case.

Palavras Chave

Darier disease; Darier-White; genodermatosis; new mutation; assisted reproduction; preimplantation genetic diagnosis.

Área

Clínica Médica