Juvenile Hyaline Fibromatosis Case Study

Juvenile hyaline fibromatosis (JHF) is inherited as a fatal autosomal recessive disorder due to mutation in CMG2, or ANTXR2 gene ,The term juvenile hyaline fibromatosis was introduced by Kitano etal in 1972. The disease was previously referred to as mesenchymal dysplasia, molluscum fibrosum, systematic hyalinosis, There is disruption of the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues like skin, joints and bones leading to the development of skin papules, gingival hyperplasia, osteolytic lesions in bone and joint contractur, There is disruption of the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues, It is characterized by widespread deposition of hyaline material in all body tissues

there were gingival hyperplasias, multiple nodular lesions on the posterior neck, in the nares, on the ears bilaterally. no obvious osteolytic lesions or joint deformities were noted. The lesions were soft to firm in consistency and non-tender. There was no significant lymphadenopathy or hepatosplenomegaly. Hematological and biochemical investigations were within normal limits. No history of consanguinity was present in the parents.
Fine-needle aspiration of the prenal mass and multiple excsional and incisional biopsies revealed benign spindle-shaped cells with an eosinophilic ground substance in the background. Grossly, the nodules were of variable. Based on the clinical findings, a review of cytology smears and histopathological slides, a diagnosis of JHF was