ABSTRACT
Objective@#To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.@*Methods @# A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed.@*Results @#Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect.@*Conclusion@# Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.
ABSTRACT
Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.
ABSTRACT
El síndrome de fibromatosis hialina es una enfermedad autosómica recesiva rara, que se caracteriza por la presencia de contractura y dolor articular, placas y nódulos hiperpigmentados e hipertrofia gingival, producto de la acumulación de un material amorfo hialino similar al colágeno tipo VI en diferentes tejidos. Esta enfermedad incluye el síndrome de hialinosis sistémica y la fibromatosis hialina juvenil, dos entidades que, durante años, fueron consideradas de manera separada; sin embargo, las características clínicas y la edad de presentación se superponen. Además, ha sido documentado que la causa de ambas entidades se localiza en un mismo gen. Se presentan dos casos de hermanas de una misma familia colombiana afectadas por la enfermedad.
Hyaline fibromatosis syndrome is a rare autosomal recessive disease characterized by the presence of contracture and joint pain, hyperpigmented plaques and nodules and gingival hypertrophy. These findings are the result of the accumulation of a hyaline amorphous material similar to collagen type VI in different tissues. This syndrome includes systemic hyalinosis and juvenile hyaline fibromatosis, two entities that for years were considered separately. However, it has been documented that the cause of both entities is located in the same gene and the clinical features and age of presentation are overlapped. In this study two cases of sisters from a same colombian family affected by the disease are presented.
Subject(s)
Humans , Female , Infant , Child, Preschool , Hyaline Fibromatosis Syndrome/diagnosis , Gingival Hypertrophy , Phenotype , Fatal OutcomeABSTRACT
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.