juvenile hyalin fibromatosis

ju·ve·nile hy·a·lin fi·bro·ma·to·sis

[MIM*228600]
a rare recessively inherited deforming disorder of head, neck, and generalized cutaneous nodules or tumors in children with normal mentality; the lesions consist of fibroblasts separated by an eosinophilic hyalin stroma composed mostly of glycosaminoglycans.
Synonym(s): systemic hyalinosis

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.
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