دورية أكاديمية
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome.
| العنوان: | Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome. |
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| المؤلفون: | Daşar T; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Gönen HN; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Kösemehmetoğlu K; Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Tekşam Ö; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Şimşek Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye. |
| المصدر: | The Turkish journal of pediatrics [Turk J Pediatr] 2024 May 23; Vol. 66 (2), pp. 205-214. Date of Electronic Publication: 2024 May 23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Hacettepe Medical Center Country of Publication: Turkey NLM ID: 0417505 Publication Model: Electronic Cited Medium: Internet ISSN: 2791-6421 (Electronic) Linking ISSN: 00414301 NLM ISO Abbreviation: Turk J Pediatr Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Ankara : Hacettepe Medical Center |
| مواضيع طبية MeSH: | Hyaline Fibromatosis Syndrome*/genetics , Hyaline Fibromatosis Syndrome*/diagnosis, Humans ; Male ; Female ; Infant ; Child, Preschool ; Receptors, Peptide/genetics ; Turkey ; Child |
| مستخلص: | 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. Competing Interests: The authors declare that there is no conflict of interest. |
| فهرسة مساهمة: | Keywords: ANTXR2; CMG2; Hyaline Fibromatosis Syndrome; infantile systemic hyalinosis; juvenile hyaline fibromatosis |
| المشرفين على المادة: | 0 (ANTXR2 protein, human) 0 (Receptors, Peptide) |
| تواريخ الأحداث: | Date Created: 20240530 Date Completed: 20240530 Latest Revision: 20240530 |
| رمز التحديث: | 20240530 |
| DOI: | 10.24953/turkjpediatr.2024.4511 |
| PMID: | 38814306 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2791-6421 |
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| DOI: | 10.24953/turkjpediatr.2024.4511 |