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 ?
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Infantile systemic hyalinosis or juvenile hyaline fibromatosis? Pediatr Dermatol 2004; 21: 154-9.
Juvenile hyaline fibromatosis: A 15-year follow-up.
Juvenile hyaline fibromatosis. Br J Dermatol 1983; 108: 609-16.
Juvenile hyaline fibromatosis. Egypt J Med Hum Genet 2002;3:85-93.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system.
Juvenile hyaline fibromatosis: ultrastructural study.
Juvenile hyaline fibromatosis: a report of two unrelated adult sibling cases and a literature review.

Full browser ?