juvenile hyaline fibromatosis


Also found in: Acronyms.

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 ?
Juvenile hyaline fibromatosis is a rare disorder of connective tissue which is associated with abnormal synthesis of hyaline, a collagen like substance.
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
All symptoms of typical juvenile hyaline fibromatosis are not necessarily present in each patient.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.
Hanks S, Adams S, Douglas J et al: Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Full browser ?