juvenile hyaline fibromatosis

(redirected from Puretic syndrome)

juvenile hyaline fibromatosis

An extremely rare (70 cases in the world literature) autosomal-recessive condition of early onset (infancy, childhood), which affects the skin, joints, and bones.

Clinical findings
Variably-sized, occasionally painful nodules on the hands, neck, scalp, ears, and nose, as well as at joint creases and external genitalia; gingival hypertrophy; joint contractures; reduced range of motion.
References in periodicals archive ?
Puretic syndrome hyalinosis, systemic juvenile, murray-puretic syndrome, and molluscum fibrosus are known synonyms of juvenile hyaline fibromatosis.3 JHF was first described in 1969 by Drescher et al.4 So for less than 70 cases of JHF have been reported worldwide.5 The prevalence of JHF is unknown.