%228550
ICD+
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| FIBROMATOSIS, CONGENITAL GENERALIZED; CGF | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Other entities represented in this entry: | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MYOFIBROMATOSIS, JUVENILE, INCLUDED | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MYOFIBROMATOSIS, INFANTILE, INCLUDED | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital generalized fibromatosis is a rare disorder characterized by multiple fibroblastic tumors involving skin, striated muscles, bones and viscera. The tumors are present at birth or develop during the first weeks of life. This disorder was described by Stout (1954), who distinguished it from other forms of juvenile fibromatosis. The radiologic findings are similar to those of Ollier disease (166000). Multiple cystic lesions involve the metaphyses. Multiple soft tissue nodules occur (Shnitka et al., 1958), as in multiple neurofibromatosis (162200), but a cutaneous pigmentary anomaly is not a feature. Hower et al. (1971) described affected half sisters with the same mother. Affected sibs have also been observed by McAdams (as cited by {Stout et al., 1961}). Bartlett et al. (1961) observed 4 cases among first cousins. The mother of affected brother and sister and the father of another affected brother-sister pair were sibs. Familusi et al. (1976) observed gingival hypertrophy and ankylosis of many joints in a Nigerian infant. Baer and Radkowski (1973) distinguished congenital multiple fibromatosis which carries a better prognosis because viscera are not affected. According to their tabulation of reported cases, Bartlett et al. (1961) and Kauffman and Stout (1965) reported patients of both categories. Stout (1954) and Teng et al. (1963) dealt with congenital generalized fibromatosis and Heiple et al. (1972) reported on congenital multiple fibromatosis (despite the title of his paper). Some consider the tumors a form of hamartomatosis since they often contain smooth muscle and vascular channels in addition to fibrous tissue. Chung and Enzinger (1981) preferred the term juvenile myofibromatosis because of the presumed myofibroblastic origin of the cells. The prognosis is poor when several internal organs are affected; 80% of such infants are said to die in the first 4 months of life. On the other hand, complete spontaneous regression has been observed (Teng et al., 1963). These characteristics are reminiscent of those of neuroblastoma (256700). Venencie et al. (1987) described infant brothers with cutaneous and skeletal myofibromas. The cutaneous lesions healed spontaneously and completely. Although this and other reports suggest autosomal recessive inheritance, such cannot explain the affected half sisters reported by Hower et al. (1971) and the cases of this disorder in a female infant and her father reported by Jennings et al. (1984). 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. Bracko et al. (1992) described 2 brothers with multicentric infantile myofibromatosis. In both, tumors were present at birth; the tumors regressed spontaneously but new lesions developed throughout the follow-up periods of 15 and 8 years. Bracko et al. (1992) reviewed 9 additional families with this disorder in more than one member. The occurrence of the disorder in 8 sets of sibs, with consanguinity in 2, favored autosomal recessive inheritance; as noted previously, however, the occurrence in half sisters and in successive generations favored autosomal dominant inheritance. Narchi (2001) described a family strongly supporting autosomal recessive inheritance of infantile myofibromatosis. A healthy woman, married to her first cousin, had 4 children, 3 of whom (2 sons and 1 daughter) were diagnosed with infantile myofibromatosis, confirmed by histopathologic studies. Some lesions recurred and one of the sibs developed intraorbital and intracranial myofibromas that required surgery. After a divorce, the woman married her previous husband's half brother (from the same father) who was also healthy. Their first 2 children were unaffected, but the third child, who was female, also developed myofibromatosis. The parents themselves denied having neonatal lesions that spontaneously regressed. From a review of the literature, Narchi (2001) concluded that autosomal recessive inheritance is most likely. Zand et al. (2004) presented 3 families with infantile myofibromatosis inherited in an autosomal dominant manner. They were prompted to reassess reported pedigrees which had suggested autosomal recessive inheritance. They pointed out that most nodules tend to regress spontaneously, making family history difficult to obtain and/or confirm. They suggested that all infantile familial myofibromatosis may be autosomal dominant or, alternatively, there may be genetic heterogeneity. In the first family reported by Zand et al. (2004) there were 3 proven instances of male-to-male transmission and 2 other suspected instances. The proband presented at birth with a mass in the superficial soft tissue of the left upper quadrant of the abdominal wall. At 3 weeks of age, an additional mass was noted behind his left knee, while at 6 weeks of age the abdominal wall mass regressed. The family history was notable for a brother and father who had been diagnosed with biopsy-proven infantile myofibromatosis. The proband of the second family reported by Zand et al. (2004) was evaluated at 3 years of age for a persistent 'scalp mass' which had presented during infancy. A mass was also present on the shoulder. By the age of 16 years, she had developed a total of 6 soft tissue lesions without complication. Her father and a paternal first cousin had biopsy-proven infantile myofibromatosis, but had a much more complicated clinical course. The father developed both soft tissue and visceral lesions throughout his life, including lesions in his meninges, kidney, and vocal cords, requiring tracheotomy placement. At 9 months of age the proband's first cousin developed an intususseption. Pathology obtained during surgical repair was consistent with multiple myofibromata, which presumably served as a lead point to the intususseption. The proband of the third family presented at birth with a large pedunculated mass attached to the right parietooccipital scalp. Cranial imaging and pathologic findings confirmed solitary infantile myofibromatosis. Her brother had previously undergone surgery in infancy for a small thigh mass, also found to be a myofibroma. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| See Also: | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Altemani et al. (1985); Baird and Worth (1976); Modi (1982); Touraine and Ruel (1945) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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