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18 May 2022 : Case report  Thailand

[In Press] Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation

Challenging differential diagnosis, Rare disease, Congenital defects / diseases

Pongsakorn Choochuen1ABCDEF, Wison Laochareonsuk12CD, Pattama Tanaanantarak3CD, Kanet Kanjanapradit4B, Surasak Sangkhathat25ADEG

DOI: 10.12659/AJCR.935921

Am J Case Rep In Press; DOI: 10.12659/AJCR.935921  

Available online: 2022-05-18, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Juvenile hyaline fibromatosis is a rare autosomal recessive disorder with unknown prevalence characterized by abnormal development of hyalinized fibrous tissue usually in the skin, mucosa, bone, and often the internal organs. Here, we report the case of a 7-year-old girl from a family with ANTXR2 mutation confirming JHF.
The girl presented with multiple painless soft-tissue swellings affecting the ears, forehead, and scalp. Excisional biopsies of the masses reported positive immunohistochemical staining for collagen type VI in the extracellular matrix area, which indicated collagen VI accumulation. Genetic analysis was performed using whole-exome sequencing. The variants were further validated using Sanger sequencing in trio-based approach. We identified a novel mutation, c.1273_1293delinsTCTTGTGGGTTTGGCT in exon 15 of ANTXR2 gene, leading to a frameshift of the amino acid from codon 425 to all the rest of the amino acid chain (p.Pro425Serfs). The change of an encoded protein interrupted lysosome-mediated degradation of collagen VI. This finding was compatible with her parents whose genetic tests were both positive for the same heterogenous deletion/insertion mutation. The patient was treated with surgical excision of the tumor masses, which had to be repeated several times due to recurrences.
This novel mutation in exon 15 of the ANTXR2 gene may help improve understanding of genotype-phenotype correlations for this syndrome and provide the basis for diagnostic testing. A multidisciplinary team approach including genetic molecular testing is required for an accurate diagnosis and management of JHF for conducting genetic counseling for affected families as a part of holistic management.

Keywords: Collagen Type VI; Hyalinosis, Systemic; Whole Exome Sequencing; ANTXR2 Protein, Human


16 June 2022 : Case report  Ecuador

Multidrug-Resistant Klebsiella pneumoniae in a Patient with SARS-Cov-2 Pneumonia in an Intensive Care Unit ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.936498  

13 June 2022 : Case report  Japan

Stenotrophomonas maltophilia Infection Associated with COVID-19: A Case Series and Literature Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.936889  

13 June 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

Am J Case Rep In Press; DOI: 10.12659/AJCR.936128  

03 June 2022 : Case report  Japan

Clinical Outcomes of Sotrovimab Treatment in 10 High-Risk Patients with Mild COVID-19: A Case Series

Am J Case Rep In Press; DOI: 10.12659/AJCR.936832  

In Press

24 Jun 2022 : Case report  USA

A 24-Year-Old Man Presenting with Lung Metastases from a Primary Retroperitoneal Extragonadal Choriocarcinoma

Am J Case Rep In Press; DOI: 10.12659/AJCR.936288  

24 Jun 2022 : Case report  Romania

Odontogenic Keratocyst: The Dos and Don’ts in a Clinical Case Scenario

Am J Case Rep In Press; DOI: 10.12659/AJCR.936641  

24 Jun 2022 : Case report  Saudi Arabia

Management of Patients with Alagille Syndrome Undergoing Living Donor Liver Transplantation: A Report of 2 ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.936513  

22 Jun 2022 : Case report  USA

A Case of Lymphomatoid Granulomatosis in a Lymph Node with Unique Clinical and Histopathologic Features

Am J Case Rep In Press; DOI: 10.12659/AJCR.936862  

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923