Juvenile Hyaline Fibromatosis

Rare congenital genetic disorder characterized by papulonodular skin lesions, soft tissue masses, gingival hypertrophy, and flexion contractures of the large joints.

(Figure)

Murray Syndrome; JHF; Infantile Systemic Hyalinosis; Murray Puretic Syndrome; Puretic Syndrome.

First described by J. Murray in 1873 and reported by A. Whitfield and A.H. Robinson in 1903.

Autosomal recessive. Gene mapped on 4q21.

May be a disorder of collagen metabolism (because it is associated with abnormalities of collagen III and VI resulting from an underlying defect in glycosaminoglycan formation).

Onset in infancy or early childhood. Typical diagnostic criteria are multiple hyaline subcutaneous fibroma, filamentous tumors of the skin, gingival fibromatosis, muscle contractures of the extremities, and multiple osteolytic bone destruction. Features include osteolysis, diaphyseal anomaly, thickened gingivae, subcutaneous nodules, and restricted joint mobility. Deposits have been described in larynx, heart, and endocrine glands.

Both direct laryngoscopy and tracheal intubation can be difficult because of limited widening of the mouth and laryngeal deposits. One case of unexplained resistance to succinylcholine has been described. Preoperative cardiac function assessment can be proposed.