Diagnosis of Marfan Syndrome and hypomelanosis of Ito in an adolescent
Keywords:
Mixed connective tissue disease, skin pigmentation, Marfan syndrome, Ito syndrome, connective tissue.Abstract
Introduction: Marfan Syndrome and hypomelanosis of Ito are low-incidence diseases that share clinical and genetic elements.
Objective: To demonstrate the importance of periodic follow-up of patients with dysmorphia for the diagnosis of Marfan syndrome and hypomelanosis of Ito.
Case presentation: A 13-year-old male adolescent is presented. In the first years of life, he was diagnosed with multiple dysmorphia, conductive hearing loss, and dilation of the cardiovascular ventricular system. After falling ill with COVID-19, his mother was concerned with the fact that he sometimes reported shortness of breath, so he came to the doctor. On physical examination, he was found to have a macular, achromatic pattern that follows the path of Blaschko's lines, striae on the back and hips, tall stature, double ear canal and poorly developed auricle, pectum excavatum, dolichostenomelia, positive Walker Murdoch and Gowers signs, joint hyperlaxity, flat feet, and dorsolumbar scoliosis. These manifestations led to the diagnosis of Marfan syndrome and hypomelanosis of Ito, which were subsequently confirmed by karyotyping.
Conclusions: Marfan syndrome and hypomelanosis of Ito are rare entities in which clinical suspicion due to the presence of multiple dysmorphisms and periodic monitoring allow for early diagnosis.
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