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Infantile myofibromatosis is an unusual mesenchymal disorder characterized by the proliferation of tumours in the skin, muscle, bone, and viscera. Although it is a rare condition, it is the most common fibrous tumour of infancy. The tumours are mainly present at birth or develop during the first weeks of life, in 90% of cases lesions were noted as occurring before two years of age. There are two distinguishable types of infantile myofibromatosis: the solitary type, defined by the presence of one nodule in the skin, muscle, bone or subcutaneous tissue, and the multicentric type, which can be further divided into two sub-types. The first sub-type is associated with multicentric lesions but no visceral involvement, while in the second type, visceral involvement is present. Clinical manifestations of the disease depend on the site and number of lesions. Pain may occur and is related to compression of adjacent neural structures. The aetiology of this disorder is unknown. Increased occurrence within families and identification of the disease in twins, are suggestive of an autosomal dominant inheritance pattern, but recessive modes of inheritance have also been proposed. Once a diagnosis has been made, observation is the treatment of choice. Surgical excision is sometimes required for obstructive or locally destructive tumours. Prognosis for this disease depends on the presence of visceral involvement. For solitary and multicentric nodules with no visceral involvement, prognosis is usually excellent with spontaneous regression of lesions. However, the presence of visceral lesions is associated with significant morbidity and mortality, which result from obstruction of vital organs, failure to thrive, or infection. |