[Cromoanagénesis y Eritrodermia como claves diagnósticas en un paciente en estado crítico]
Enrique Daniel Austin-Ward 1, Nicolás Hurtado2, Nelson Santamaría3, Alexis Pinto4, German Espino5
1. Institute of Advanced Scientific Research and High Technology Services – INDICASAT, Panama, Rep. of Panama;Department of Clinical Genetics, Hospital Pacifica Salud (Punta Pacifica), Panama;Institute of Medical Genetics and Genomics, Caja de Seguro Social Panama.; 2. Nephrology and Intensive Care Unit, Santa Fe Hospital, Panama, Republic of Panama; 3. Pneumology Unit, Hospital Santa Fe, Panama, Rep. of Panama; 4. Hematology Unit, Hospital Santa Fe, Panama, Rep. of Panama; 5. Department of Hematology, Hospital Santo Tomás, Panama, Rep. of Panama;Hemato-Oncology Center, Panama, Rep. of Panama;School of Medicine, University of Panama, Panama, Rep. of Panama.
DOI: 10.37980/im.journal.ggcl.20242414
Published: 2024-08-31
We report the case of a patient with severe multisystemic failure in which massive chromosomal changes in mosaic state were detected, which are considered to be associated with the possible underlying pathology: a T-cell lymphoproliferative syndrome. The patient also presented a case of Erythroderma of unknown cause several years earlier, with a progressive decline in her physical condition. The spectrum of clinical manifestations is then presented as a nonspecific paraneoplastic cutaneous picture of several years of evolution and findings of chromoanagenesis in the last phase of a lymphoproliferative morbid process. The new techniques of genetic analysis make it possible to obtain data to clarify the diagnostic processes and to identify a serious disorganization of the genetic information considered to be responsible for neoplastic changes.