Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus
Loeys-Dietz syndrome is a hereditary connective-tissue disorder first reported in 2005. It is caused by genetic defects in the transforming growth factor-beta (TGF-β) signaling pathway. TGF-β signaling plays an important role in connective-tissue development, differentiation, and homeostasis. Dysreg...
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| Format: | Article |
| Language: | English |
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The Korean Society of Pediatric Hematology-Oncology
2023-10-01
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| Series: | Clinical Pediatric Hematology-Oncology |
| Subjects: | |
| Online Access: | https://doi.org/10.15264/cpho.2023.30.2.99 |
| _version_ | 1797642759069237248 |
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| author | Daro Jeong Jung Hyun Lee Seom Gim Kong |
| author_facet | Daro Jeong Jung Hyun Lee Seom Gim Kong |
| author_sort | Daro Jeong |
| collection | DOAJ |
| description | Loeys-Dietz syndrome is a hereditary connective-tissue disorder first reported in 2005. It is caused by genetic defects in the transforming growth factor-beta (TGF-β) signaling pathway. TGF-β signaling plays an important role in connective-tissue development, differentiation, and homeostasis. Dysregulation of TGF-β signaling causes various defects in the skull, face, skeletal system, skin, and blood vessels. Symptoms of Loeys-Dietz syndrome include scoliosis, spider finger, joint laxity, club foot, hypertelorism, and cleft palate. In addition, aortic aneurysm, aortic dissection, bleeding tendency, delayed wound healing, allergic disease, and autoimmune disease have been reported. Here, we describe an 11-year-old male with type 1 diabetes mellitus who had frequent epistaxis and easy bruising from an early age, along with skin and joint hyperextension, atrophic scars, and long limbs. He was suspected of having a hereditary connective-tissue disorder and was diagnosed with Loeys-Dietz syndrome type 1 by next-generation sequencing. Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. In addition, because aortic dissection can occur at a young age, early diagnosis and periodic examination and treatment for cardiovascular diseases are necessary. |
| first_indexed | 2024-03-11T14:04:56Z |
| format | Article |
| id | doaj.art-2232d2d04d8449bd9db52cf9677ac613 |
| institution | Directory Open Access Journal |
| issn | 2233-5250 |
| language | English |
| last_indexed | 2024-03-11T14:04:56Z |
| publishDate | 2023-10-01 |
| publisher | The Korean Society of Pediatric Hematology-Oncology |
| record_format | Article |
| series | Clinical Pediatric Hematology-Oncology |
| spelling | doaj.art-2232d2d04d8449bd9db52cf9677ac6132023-11-02T02:40:58ZengThe Korean Society of Pediatric Hematology-OncologyClinical Pediatric Hematology-Oncology2233-52502023-10-013029910210.15264/cpho.2023.30.2.99cpho.2023.30.2.99Loeys-Dietz Syndrome with Type 1 Diabetes MellitusDaro Jeong0Jung Hyun Lee1Seom Gim Kong2Department of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, KoreaDepartment of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, KoreaDepartment of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, KoreaLoeys-Dietz syndrome is a hereditary connective-tissue disorder first reported in 2005. It is caused by genetic defects in the transforming growth factor-beta (TGF-β) signaling pathway. TGF-β signaling plays an important role in connective-tissue development, differentiation, and homeostasis. Dysregulation of TGF-β signaling causes various defects in the skull, face, skeletal system, skin, and blood vessels. Symptoms of Loeys-Dietz syndrome include scoliosis, spider finger, joint laxity, club foot, hypertelorism, and cleft palate. In addition, aortic aneurysm, aortic dissection, bleeding tendency, delayed wound healing, allergic disease, and autoimmune disease have been reported. Here, we describe an 11-year-old male with type 1 diabetes mellitus who had frequent epistaxis and easy bruising from an early age, along with skin and joint hyperextension, atrophic scars, and long limbs. He was suspected of having a hereditary connective-tissue disorder and was diagnosed with Loeys-Dietz syndrome type 1 by next-generation sequencing. Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. In addition, because aortic dissection can occur at a young age, early diagnosis and periodic examination and treatment for cardiovascular diseases are necessary.https://doi.org/10.15264/cpho.2023.30.2.99loeys-dietz syndromereceptortransforming growth factor-beta type iconnective tissue diseasesdiabetes mellitustype 1 |
| spellingShingle | Daro Jeong Jung Hyun Lee Seom Gim Kong Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus Clinical Pediatric Hematology-Oncology loeys-dietz syndrome receptor transforming growth factor-beta type i connective tissue diseases diabetes mellitus type 1 |
| title | Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus |
| title_full | Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus |
| title_fullStr | Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus |
| title_full_unstemmed | Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus |
| title_short | Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus |
| title_sort | loeys dietz syndrome with type 1 diabetes mellitus |
| topic | loeys-dietz syndrome receptor transforming growth factor-beta type i connective tissue diseases diabetes mellitus type 1 |
| url | https://doi.org/10.15264/cpho.2023.30.2.99 |
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