Juvenile Hyaline Fibromatosis

At a glance

Rare congenital genetic disorder characterized by popular and nodular skin lesions, soft tissue masses, gingival hypertrophy, and joint contractures of the large articulations and bone involvement of variable complexity. The skin lesions are slow-growing soft masses, pearly white or skin-colored dermal papules or subcutaneous nodules mostly located on the face, scalp, and back. It is often confused for neurofibromatosis. It occurs from early childhood to adulthood. The disease has a relentlessly progressive course, with most patients surviving only up to the fourth decade.

Synonyms

Murray Syndrome; JHF Syndrome; Infantile Systemic Hyalinosis Syndrome; Murray Puretic Syndrome; Puretic Syndrome; Fibromatosis Hyalinica Multiplex Juvenilis Syndrome.

History

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

Incidence

A scan of the world literature revealed that less than 70 cases have been reported so far. The clinical onset is usually noted from birth up to 5 years of age. Boys are affected slightly more commonly than girls.

Genetic inheritance

It is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). Gene mapped on 4q21. Based on actual genetic knowledge, it is recommended to provide genetic counseling since there is a 25% chance of having a child with the disease at any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.

Pathophysiology

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).

Clinical aspects

Onset in infancy or early childhood. Typical diagnostic criteria are multiple hyaline subcutaneous fibromas, 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.

Anesthetic considerations

Both direct laryngoscopy and tracheal intubation can be difficult because of limited widening of the mouth, gingival hypertrophy, and laryngeal masses. One case of unexplained resistance to succinylcholine has been described. Preoperative cardiac function assessment can be indicated. Special care must be taken in positioning the patient to prevent pressure point and necrosis.

Other condition to be considered

• Neurofibromatosis (NF) Syndrome: Group of three conditions in which tumors grow in along and within the nervous system. Descriptions of the condition occur as far back as the 1st century. There ...