Juvenile hyalin fibromatosis

Abstract

A boy had multiple large tumors on the scalp, whitish nodules on the nape and both sides of the neck, hypertrophic gingiva, and severe flexural contractures of hip and knee joints. The histopathologic structure of the tumor was characteristic of juvenile hyalin fibromatosis. The tumor cells were embedded in an amorphous eosinophillic ground substance. X-ray films revealed numerous osteolytic and osteociastic lesions that are important findings in the study of this disease.

Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

“…First described by Murray in 1873 [4], juvenile hyaline Wbromatosis was better characterized by Kitano et al [1,3]. in 1972.…”

“…Kitano in 1976 was the Wrst to describe skeletal manifestations [3], which include mainly generalized osteoporosis and osteolytic lesions on terminal phalanges and long bones. To our knowledge, only ten cases of JHF have been reported in adults in English literature [2,[7][8][9][10][11][12][13][14], among which 4 reports described X-ray aspects [2,[8][9][10], always abnormal, in contrast to children in whom normal aspect on X-ray studies is not infrequently observed [13,16,17].…”

“…Musculoskeletal involvement in JHF is frequent, and Xexion contracture of large joints is the most debilitating problem; most adolescents and adults become bedridden and die of infection; the oldest reported case was 51 years old [2]. Skeletal manifestations, rarely reported in adults, include phalangeal osteolysis, cortical erosions of long bones and osteoporosis [3]. In the present article, we report the Wrst Algerian case presenting with a mild form of JHF and focus on the radiographic aspects of this condition in adulthood.…”

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

“…10,11 Other organs that may be affected include the heart, trachea, esophagus, stomach, spleen, adrenal glands, thyroid, lymph nodes, and skeletal muscle. 11,12 Histopathological findings in JHF and ISH are characteristic and identical. Deposits of an abundant homogenous eosinophilic material are observed in the papillary and reticular dermis.…”

Juvenile Hyaline Fibromatosis

“…The current name, JHF, was proposed by Kitano in 1976 (2). JHF is an autosomal recessive disease that is usually detected in infancy or early childhood.…”