Myofibromatosis, Infantile, 1

Alternative Names

  • IMF1
  • Myofibromatosis, Juvenile
  • Fibromatosis, Congenital Generalized
  • CGF
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WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

OMIM Number

228550

Gene Map Locus

5q32

Description

Infantile myofibromatosis is a rare disorder characterized by multiple fibroblastic benign tumors that are derived from connective tissue and involving skin, striated muscles, bones and viscera. The tumors are present at birth or develop during the first weeks of life. Following initial growth and proliferation of tumor cells, the tumors usually regress and eventually spontaneously disappear. In some instances, new tumor development may occur after long periods. Patients with single or multiple tumors without visceral involvement generally have a benign disease course; therefore, the prognosis is excellent. However, in infants with severe or widespread visceral involvement, the tumors may significantly compress, obstruct, and impair the functioning of internal organs. Thus, the mortality rate is high among patients with visceral nodules.

Infantile myofibromatosis-1 (IMF1) is caused by mutations in the PDGFRB gene.

Epidemiology in the Arab World

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Other Reports

Bahrain

[See: Sudan > Janahi et al., 1999].

Morocco

Castro et al. (1987) reported a case of multicentric fibromatosis in a 35-year-old woman who had first onset of a cutaneous tumor at age 5 years. Although the parents came from Jewish lineages that had resided in the same city in Morocco for many generations, no consanguinity was known. One aunt and a female cousin had similar subcutaneous tissues, but the sibs, parents, and grandparents were apparently free of tumors.

Sudan

Janahi et al. (1999) described a three year old Sudanese girl, residents of Bahrain, affected with infantile fibromatosis involving the cheek.

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