Clinical, etiological and therapeutic aspects of Dyskeratosis congenita

  • Rosario Perona Instituto de Investigaciones Biomédicas CSIC/UAM. CIBER de enfermedades raras, IDIPaz, Madrid, España.
  • Leandro Sastre Instituto de Investigaciones Biomédicas CSIC/UAM. CIBER de enfermedades raras, IDIPaz, Madrid, España.
  • Michele Callea Unit of Dentistry, Bambino Gesù Children’s Hospital, IRCSS, Rome, Italy.
  • Francisco Cammarata-Scalisi Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela. https://orcid.org/0000-0002-0193-2171
Keywords: dyskeratosis congenital, telomeropathies, clinic, etiology, treatment

Abstract

The Dyskeratosis congenita corresponds to the first genetic entity described among telomeropathies, whose classic form is characterized by presenting the mucocutaneous triad of reticulated skin-lace pigmentation, nail dystrophy and oral leukoplakia. It can also occur with bone marrow failure, hematological and solid tumors, corresponding to the most serious complications. In addition to immunodeficiencies, dental, lung and liver disorders and other aspects considered minor. In turn, it presents varied genetic locus heterogeneity, with at least 14 genes involved in the telomere´s shortening, therefore associated with dyskeratosis congenita or similar phenotypes. This review discusses in addition to the clinical characteristics, the various etiological causes, evolution, available therapeutic options, and the differential diagnostic of this entity in order to provide an interdisciplinary and individualized medical evaluation that includes adequate genetic counseling.

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Published
2020-03-31
How to Cite
1.
Perona R, Sastre L, Callea M, Cammarata-Scalisi F. Clinical, etiological and therapeutic aspects of Dyskeratosis congenita. Rev Peru Investig Salud [Internet]. 31Mar.2020 [cited 27Sep.2020];4(2):77-2. Available from: http://revistas.unheval.edu.pe/index.php/repis/article/view/606
Section
Artículos de revisión