Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Abstract

<b><i>Introduction:</i></b> Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in <i>TTC37</i> and <i>SKIV2L</i> genes and characterized by intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in <i>ECM1</i> gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. <b><i>Case Presentation:</i></b> Four years after the diagnosis and management of THES, due to new clinical findings, another reason for underlying features of the patient was considered. WES was performed and a homozygous c.507delT (p.Arg171GlyfsTer7) mutation in the <i>ECM1</i> gene was detected. <b><i>Conclusion:</i></b> This case provides an example of co-existence of multiple genetic defects in a single patient born to consanguineous parents.