Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness...
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Hacettepe University Institute of Child Health
2024-05-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/4511 |
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| author | Tuğba Daşar Hasibe Nesligül Gönen Kemal Kösemehmetoğlu Özlem Tekşam Koray Boduroğlu Gülen Eda Utine Pelin Özlem Şimşek Kiper |
| author_facet | Tuğba Daşar Hasibe Nesligül Gönen Kemal Kösemehmetoğlu Özlem Tekşam Koray Boduroğlu Gülen Eda Utine Pelin Özlem Şimşek Kiper |
| author_sort | Tuğba Daşar |
| collection | DOAJ |
| description |
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey.
Methods. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser.
Results. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years.
Conclusions. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.
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| format | Article |
| id | doaj-art-e33280b04c0f489aa5adfb5df0ec396d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e33280b04c0f489aa5adfb5df0ec396d2025-08-20T02:00:47ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212024-05-0166210.24953/turkjpediatr.2024.4511Hyaline fibromatosis syndrome: a rare, yet recognizable syndromeTuğba Daşar0https://orcid.org/0000-0002-1493-4352Hasibe Nesligül Gönen1https://orcid.org/0000-0001-6903-5779Kemal Kösemehmetoğlu2https://orcid.org/0000-0002-7747-0460Özlem Tekşam3https://orcid.org/0000-0003-1856-0500Koray Boduroğlu4https://orcid.org/0000-0001-6260-1942Gülen Eda Utine5https://orcid.org/0000-0001-6577-5542Pelin Özlem Şimşek Kiper6https://orcid.org/0000-0001-7244-7766Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDepartment of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDepartment of Pathology, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDepartment of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TürkiyeDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey. Methods. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser. Results. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years. Conclusions. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation. https://turkjpediatr.org/article/view/4511Hyaline Fibromatosis Syndromejuvenile hyaline fibromatosisinfantile systemic hyalinosisANTXR2CMG2 |
| spellingShingle | Tuğba Daşar Hasibe Nesligül Gönen Kemal Kösemehmetoğlu Özlem Tekşam Koray Boduroğlu Gülen Eda Utine Pelin Özlem Şimşek Kiper Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome The Turkish Journal of Pediatrics Hyaline Fibromatosis Syndrome juvenile hyaline fibromatosis infantile systemic hyalinosis ANTXR2 CMG2 |
| title | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome |
| title_full | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome |
| title_fullStr | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome |
| title_full_unstemmed | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome |
| title_short | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome |
| title_sort | hyaline fibromatosis syndrome a rare yet recognizable syndrome |
| topic | Hyaline Fibromatosis Syndrome juvenile hyaline fibromatosis infantile systemic hyalinosis ANTXR2 CMG2 |
| url | https://turkjpediatr.org/article/view/4511 |
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