FaCD Online Syndrome Fact Sheet

Last updated: 20 Nov 2011

Name: Congenital Generalized Fibromatosis

Synonym: incl.: Juvenile Myofibromatosis, Infantile Myofibrosis

Mode of Inheritance: AR?/AD?

Tumor features

fibroblastic tumor involving bone (fibromatosis)
fibroblastic tumor involving the soft tissues (fibromatosis)
fibroblastic tumor involving viscera (fibromatosis)

Comment

This is a rare congenital type of fibrous proliferation[9]. Typically, multiple small tumors develop, mainly involving the head and neck in the newborn. The tumors usually involve superficial and muscular tissues of the body, but may also involve bone (all cases referred to as type I congenital fibromatosis, prognosis is often good), and sometimes the viscera (referred to as type II, prognosis is poor).[1] Solitary osseous lesions have been reported and have a high rate of recurrence[2]. The morphological aspects of the tumors may be confused with hemangiomas and may suggest malignancy.[3-5]. Affected siblings have been reported[3,8], including 4 cases occurring within 2 branches of a consanguineous family[3]. Families suggestive of autosomal dominant inheritance has been reported as well[6,7].

References

[1] Wiswell TE, Davis J, Cunningham BE, Solenberger R, Thomas PJ. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg 1988; 23(4):315-318.
[2] Bolano LE, Yngve DA, Altshuler G. Solitary fibromatosis of bone. A rare variant of congenital generalized fibromatosis. Clin Orthop 1991;(263):238-241.
[3] Baird PA, Worth AJ. Congenital generalized fibromatosis: an autosomal recessive condition? Clin Genet 1976; 9(5):488-494.
[4] Vila-Coro AA, Dominguez R, Calk JB, Gallardo G. Congenital generalized fibromatosis. Ann Ophthalmol 1990; 22:217-221.
[5] Ang P, Tay YK, Walford NQ. Infantile myofibromatosis: a case report and review of the literature. Cutis; cutaneous medicine for the practitioner 2004; 73(4):229-31.
[6] Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. Autosomal dominant inheritance of infantile myofibromatosis. American journal of medical genetics. Part A 2004; 126(3):261-6.
[7] Ikediobi NI, Iyengar V, Hwang L, Collins WE, Metry DW. Infantile myofibromatosis: support for autosomal dominant inheritance. Journal of the American Academy of Dermatology 2003; 49(2 Suppl Case Reports):S148-50.
[8] Puzenat E. [Familial infantile myofibromatosis]. Annales de dermatologie et de vénéréologie 2009; 136:346-9.
[9] Hausbrandt Peter A. A rare case of infantile myofibromatosis and review of literature. Journal of pediatric orthopaedics. Part B 2010; 19:122-6.