Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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University of Zagreb. School of Dental Medicine
2020-01-01
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| Series: | Acta Stomatologica Croatica |
| Subjects: | |
| Online Access: | https://hrcak.srce.hr/file/342469 |
| _version_ | 1797207264557268992 |
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| author | Predrag Knežević Marko Tarle Lucija Ida Fratrić Antonia Tarle Hana Knežević-Krajina Darko Macan |
| author_facet | Predrag Knežević Marko Tarle Lucija Ida Fratrić Antonia Tarle Hana Knežević-Krajina Darko Macan |
| author_sort | Predrag Knežević |
| collection | DOAJ |
| description | Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of a transmembrane protein which leads up to excessive deposition of hyaline material in extracellular space. The first signs may be present at birth or appear during infancy, and joint stiffness is the first, most common, symptom. Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. The symptom that raises suspicion of HFS is present later, along with subcutaneous growths. The progression of the disease includes enteropathy with extensive protein loss, chronic diarrhea and frequent infections. We present a case of a five-year-old girl with severe gingival hypertrophy that caused difficulties in eating and speaking.
To the best of our knowledge, this is also the first patient in Croatia with a confirmed ANTXR2 gene
mutation described in the literature. |
| first_indexed | 2024-04-24T09:20:09Z |
| format | Article |
| id | doaj.art-3b49b20511f54d7b90e19cc20694559e |
| institution | Directory Open Access Journal |
| issn | 0001-7019 1846-0410 |
| language | English |
| last_indexed | 2024-04-24T09:20:09Z |
| publishDate | 2020-01-01 |
| publisher | University of Zagreb. School of Dental Medicine |
| record_format | Article |
| series | Acta Stomatologica Croatica |
| spelling | doaj.art-3b49b20511f54d7b90e19cc20694559e2024-04-15T16:06:15ZengUniversity of Zagreb. School of Dental MedicineActa Stomatologica Croatica0001-70191846-04102020-01-01541697410.15644/asc54/1/8Gingival Hypertrophy in a Child with Hyaline Fibromatosis SyndromePredrag Knežević0Marko Tarle1Lucija Ida Fratrić2Antonia Tarle3Hana Knežević-Krajina4Darko Macan5Department of Maxillofacial and Oral Surgery, University Hospital Dubrava, Zagreb, Croatia; University of Zagreb School of Dental Medicine, Zagreb, CroatiaDepartment of Maxillofacial and Oral Surgery, University Hospital Dubrava, Zagreb, Croatia; University of Zagreb School of Medicine, Zagreb, CroatiaKustec Dental Polyclinic, Zagreb, CroatiaUniversity of Zagreb School of Dental Medicine, Zagreb, CroatiaUniversity of Zagreb School of Medicine, Zagreb, CroatiaDepartment of Maxillofacial and Oral Surgery, University Hospital Dubrava, Zagreb, Croatia; University of Zagreb School of Dental Medicine, Zagreb, CroatiaHyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of a transmembrane protein which leads up to excessive deposition of hyaline material in extracellular space. The first signs may be present at birth or appear during infancy, and joint stiffness is the first, most common, symptom. Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. The symptom that raises suspicion of HFS is present later, along with subcutaneous growths. The progression of the disease includes enteropathy with extensive protein loss, chronic diarrhea and frequent infections. We present a case of a five-year-old girl with severe gingival hypertrophy that caused difficulties in eating and speaking. To the best of our knowledge, this is also the first patient in Croatia with a confirmed ANTXR2 gene mutation described in the literature.https://hrcak.srce.hr/file/342469Systemic HyalinosisGingival HypertrophyGingivectomyExtracellular MatrixANTXR2 gene |
| spellingShingle | Predrag Knežević Marko Tarle Lucija Ida Fratrić Antonia Tarle Hana Knežević-Krajina Darko Macan Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome Acta Stomatologica Croatica Systemic Hyalinosis Gingival Hypertrophy Gingivectomy Extracellular Matrix ANTXR2 gene |
| title | Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome |
| title_full | Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome |
| title_fullStr | Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome |
| title_full_unstemmed | Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome |
| title_short | Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome |
| title_sort | gingival hypertrophy in a child with hyaline fibromatosis syndrome |
| topic | Systemic Hyalinosis Gingival Hypertrophy Gingivectomy Extracellular Matrix ANTXR2 gene |
| url | https://hrcak.srce.hr/file/342469 |
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