Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
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 a...
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| Veröffentlicht in: | Molecular syndromology 2023-12, Vol.14 (6), p.504-508 |
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| creator | Eser, Hatice Ceren Ayyildiz Emecen, Durdugul Topyildiz, Ezgi Isik, Esra Edeer Karaca, Neslihan Atik, Tahir Aksu, Guzide Ozkinay, Ferda Kutukculer, Necil |
| description | 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. |
| doi_str_mv | 10.1159/000531408 |
| format | Article |
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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.</description><identifier>ISSN: 1661-8769</identifier><identifier>EISSN: 1661-8777</identifier><identifier>DOI: 10.1159/000531408</identifier><identifier>PMID: 38058753</identifier><language>eng</language><publisher>Basel, Switzerland</publisher><subject>Novel Insights from Clinical Practice</subject><ispartof>Molecular syndromology, 2023-12, Vol.14 (6), p.504-508</ispartof><rights>2023 S. 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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. 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| source | Karger Journals Complete; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Novel Insights from Clinical Practice |
| title | Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child |
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