Congenital myofibromatosis

2007-09-01   Dina J Zand , Elaine H Zackai 

Division of Genetics, Metabolism, Department of Pediatrics, Childrens National Medical Center, Washington, DC, USA (DJZ); Division of Human, Molecular Genetics, Department of Pediatrics, The Childrens Hospital of Philadelphia, Philadelphia, PA, USA (EHZ)

Identity

Name

Congenital myofibromatosis

Alias

Infantile myofibromatosis , Mesenchymal hamartomatosis , Hemangiopericytoma , Vascular leiomyoma of the newborn , Congenital generalized fibromatosis

Inheritance

Postulated as autosomal dominant (AD) with variable expression or autosomal recessive (AR).

Omim

228550 , 615293

Orphanet

2591 Infantile myofibromatosis

Umls

C0432284

Clinics

Atlas Image
Hematoxylin and eosin staining of infantile myofibromatosis (IM) biopsies.
A: Family I (III-9), showing zonal pattern of spindle shaped cells with central necrosis and calcification. The lesion was subcutaneous scalp mass obtained at 4 months of age, and the diagnosis of IM was confirmed by outside consultation (Dr. C. Coffin, U. of Utah).
B: Family II (IV-6), shoulder lesion obtained at 3 months of age, but present since birth. The sample demonstrates prominent vascularity.
C: Family II (III-5), temporal lesion, biopsed at age 28 years. Diagnoses initially considered included fibroblastic meningioma, Schwanoma-neurilemmona, and IM. The patient has generalized IM confirmed by multiple other biopsies of the deltoid, axilla, and shoulders. Note the architectural similarity of (B) and (C) despite their different origins.

Neoplastic risk

Risk for neoplasm is considered to be very low. In those individuals who have multiple tumors, pathogenesis appears to be related to multifocal potential, not metastatic potential.

Treatment

Treatment is based solely upon clinical presentation. Those tumors causing secondary pathology via mass affect are commonly removed. Others may be watched due to their potential to regress.

Evolution

The evolution of the tumor is not well understood.
Pathologically, they are well circumscribed.
Histopathologically, hematoxylin and eosin (H and E) staining demonstrates growth in a zonal pattern with more primative appearing cells located centrally and spindle shaped cells peripherally. The spindle shaped cells resemble fibroblasts but are often arranged in a pattern similar to fascicles - thus resembling myocytes. As some tumors may grow rapidly, it is also common to see areas of central necrosis and calcification.

Prognosis

Prognosis is usually based upon the secondary complications caused by the tumors. Individuals with multiple tumors or visceral involvement tend to have more complications due to either number the increased number or increased possibility of poor location. In general, most individuals with uncomplicated presentations have a good prognosis.

Note

These tumors grow and regress without known initiation factors, and the diagnostic classification depends solely upon the location of the tumors. Individuals with Solitary IM only have tumor involvement of the soft tissues.
However, those individuals with Multiple IM have tumors within bone tissue, and those with Generalized IM demonstrate visceral tumors. Soft tissue involvement may occur in all three, and bone involvement may also be present in generalized IM.

Bibliography

Pubmed IDLast YearTitleAuthors
12691711976Congenital generalized fibromatosis: an autosomal recessive condition?Baird PA et al
170065292006A newborn with multiple fractures as first presentation of infantile myofibromatosis.Buonuomo PS et al
72849771981Infantile myofibromatosis.Chung EB et al
67423141984Infantile myofibromatosis. Evidence for an autosomal-dominant disorder.Jennings TA et al
174487772007Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction.Jones VS et al
142780431965CONGENITAL MESENCHYMAL TUMORS.KAUFFMAN SL et al
171862712007Multicentric infantile myofibromatosis: two perinatal cases.Pelluard-Nehmé F et al
131997731954Juvenile fibromatoses.STOUT AP et al
153658312004Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis.Sirvent N et al
104253091999del(6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis.Stenman G et al
150548392004Autosomal dominant inheritance of infantile myofibromatosis.Zand DJ et al