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Pregled bibliografske jedinice broj: 1054775

Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome


Knežević, Predrag; Tarle, Marko; Fratrić, Lucija Ida; Tarle, Antonia; Knežević-Krajina, Hana; Macan, Darko
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome // Acta stomatologica Croatica, 54 (2020), 1; 69-74 doi:10.15644/asc54/1/8 (međunarodna recenzija, članak, stručni)


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Naslov
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome

Autori
Knežević, Predrag ; Tarle, Marko ; Fratrić, Lucija Ida ; Tarle, Antonia ; Knežević-Krajina, Hana ; Macan, Darko

Izvornik
Acta stomatologica Croatica (0001-7019) 54 (2020), 1; 69-74

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Systemic Hyalinosis ; Gingival Hypertrophy ; Gingivectomy ; Extracellular Matrix ; ANTXR2 gene

Sažetak
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.

Izvorni jezik
Hrvatski, engleski

Znanstvena područja
Kliničke medicinske znanosti, Dentalna medicina



POVEZANOST RADA


Ustanove:
Stomatološki fakultet, Zagreb,
Medicinski fakultet, Zagreb,
Klinička bolnica "Dubrava"

Profili:

Avatar Url Marko Tarle (autor)

Avatar Url Darko Macan (autor)

Avatar Url Marko Tarle (autor)

Avatar Url Predrag Knežević (autor)

Citiraj ovu publikaciju

Knežević, Predrag; Tarle, Marko; Fratrić, Lucija Ida; Tarle, Antonia; Knežević-Krajina, Hana; Macan, Darko
Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome // Acta stomatologica Croatica, 54 (2020), 1; 69-74 doi:10.15644/asc54/1/8 (međunarodna recenzija, članak, stručni)
Knežević, P., Tarle, M., Fratrić, L., Tarle, A., Knežević-Krajina, H. & Macan, D. (2020) Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome. Acta stomatologica Croatica, 54 (1), 69-74 doi:10.15644/asc54/1/8.
@article{article, year = {2020}, pages = {69-74}, DOI = {10.15644/asc54/1/8}, keywords = {Systemic Hyalinosis, Gingival Hypertrophy, Gingivectomy, Extracellular Matrix, ANTXR2 gene}, journal = {Acta stomatologica Croatica}, doi = {10.15644/asc54/1/8}, volume = {54}, number = {1}, issn = {0001-7019}, title = {Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome}, keyword = {Systemic Hyalinosis, Gingival Hypertrophy, Gingivectomy, Extracellular Matrix, ANTXR2 gene} }
@article{article, year = {2020}, pages = {69-74}, DOI = {10.15644/asc54/1/8}, keywords = {Systemic Hyalinosis, Gingival Hypertrophy, Gingivectomy, Extracellular Matrix, ANTXR2 gene}, journal = {Acta stomatologica Croatica}, doi = {10.15644/asc54/1/8}, volume = {54}, number = {1}, issn = {0001-7019}, title = {Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome}, keyword = {Systemic Hyalinosis, Gingival Hypertrophy, Gingivectomy, Extracellular Matrix, ANTXR2 gene} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Emerging Sources Citation Index (ESCI)
  • Scopus


Uključenost u ostale bibliografske baze podataka:


  • PubMed


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