1.A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene
Chan Seong PARK ; Jongeun LEE ; Hyun Jeong BYUN ; Youngkyoung LIM ; Ji Hye PARK ; Jong Hee LEE ; Dong Youn LEE ; Joo Heung LEE ; Jun Mo YANG ; Jee Hun LEE ; So Young YOO
Annals of Dermatology 2019;31(Suppl):S12-S13
No abstract available.
Hyalin
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Hyalinosis, Systemic
2.Juvenile Hyaline Fibromatosis.
Kyung Tae PARK ; Dong Yeop CHANG ; Myung Whun SUNG
Clinical and Experimental Otorhinolaryngology 2010;3(2):102-106
Juvenile hyaline fibromatosis (JHF) is a rare, progressive autosomal recessive disease that's characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. We present here the case of a 2-yr-old boy with JHF along with a review of the relevant literature. This case demonstrates that JHF should be considered in the differential diagnosis when multiple subcutaneous nodules are observed in the face, head and neck.
Contracture
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Diagnosis, Differential
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Fibroma
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Gingiva
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Gingival Hypertrophy
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Head
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Hyalin
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Hyalinosis, Systemic
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Joints
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Neck
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Skin
3.Identification of novel compound heterozygous mutations in the ANTXR2 gene in a Chinese patient with juvenile hyaline fibromatosis.
Yongling ZHANG ; Ru LI ; Yan LI ; Can LIAO
Chinese Journal of Medical Genetics 2017;34(6):866-869
OBJECTIVETo identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis.
METHODSGenomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products. 100 unrelated healthy subjects were used as the controls. CLUSTALX (1.81) was employed to analyze cross-species conservation of the mutant amino acid. Impact of the mutations was analyzed with software including SIFT, PolyPhen-2 and MutationTaster.
RESULTSA compound heterozygous mutation c.1074delT/c.1153G>C, was identified, among which c.1153G>C has not been reported previously and was predicted to be probably damaging. Both mutations were not found among the 100 healthy controls.
CONCLUSIONThe patient's condition may be attributed to the compound heterozygous mutations of c.1074delT and c.1153G>C of the ANTXR2 gene. Above results has facilitated molecular diagnosis for this patient.
Child, Preschool ; Female ; Heterozygote ; Humans ; Hyalinosis, Systemic ; diagnosis ; genetics ; Mutation ; Receptors, Peptide ; genetics
4.Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome.
Jianmei YANG ; Xiaohong SHANG ; Fan LIU ; Qian WANG ; Caihong LIU ; Yan SUN ; Guimei LI
Chinese Journal of Medical Genetics 2021;38(3):232-237
OBJECTIVE:
To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).
METHODS:
Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster.
RESULTS:
The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up.
CONCLUSION
The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients.
Asian Continental Ancestry Group/genetics*
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China
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Humans
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Hyalinosis, Systemic/genetics*
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Male
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Mutation
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Pedigree
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Receptors, Peptide/genetics*
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Retrospective Studies
5.Juvenile Hyaline Fibromatosis in an Adult.
Young A KIM ; Seoung Wan CHAE ; Chong Jai KIM ; Je G CHI
Korean Journal of Pathology 2000;34(3):239-242
Juvenile hyaline fibromatosis is a rare disorder probably inherited as an autosomal recessive trait. It is characterized by multiple slowly growing subcutaneous nodules, hypertrophy of gingiva, flexion contracture, and radiolucent bone destruction. The histological features of the tumor-like lesions are characterized by the deposition of amorphous hyaline material in which spindle shaped cells are embedded. We report a case of juvenile hyaline fibromatosis in a 26 year-old-woman. She had multiple subcutaneous nodules in scalp, ear, forearms, right knee, and back. Surgical excision of the tumors in the scalp and ear was done. The largest one measured 13 9 6 cm, and had homogeneous, grayish yellow cut surface with calcification. Light microscopic examination showed abundant eosinophilic hyaline material with extensive calcification and metaplastic bone formation. Spindle cells were rarely observed at the periphery of the tumor. Hyaline matrix was PAS positive, diastase resistant, and alcian blue negative. Scattered spindle cells were positive for vimentin but negative for S-100 protein and smooth muscle actin. There were many reports regarding early lesions of juvenile hyaline fibromatosis; however in this patient, tumor existed for more than 20 years and the histology was somewhat different from the early lesions reported in the literature.
Actins
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Adult*
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Alcian Blue
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Amylases
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Contracture
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Ear
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Eosinophils
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Forearm
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Gingiva
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Humans
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Hyalin
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Hyalinosis, Systemic*
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Hypertrophy
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Knee
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Muscle, Smooth
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Osteogenesis
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S100 Proteins
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Scalp
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Vimentin