Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
Makaleler > Tam Makale · 2023
Yazarlar: Hatice Ceren Eser, Durdugul Ayyildiz Emecen, Ezgi TOPYILDIZ, Esra IŞIK, Neslihan KARACA, Tahir ATİK, Güzide AKSU, Ferda Ozkinay, Necil KÜTÜKÇÜLER
MOLECULAR SYNDROMOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2023, cilt 14, ss 504-508
DOI: 10.1159/000531408
Özet
Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in ECM1 gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. Case Presentation: 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 ECM1 gene was detected. Conclusion: This case provides an example of co-existence of multiple genetic defects in a single patient born to consanguineous parents.