Myofibromatosis infantile M72.-

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

Synonym(s)

congenital; Congenital multicentric fibromatosis; Congenital multicentric (generalized) fibromatosis; Fibromatosis; Fibrous hamartoma of infancy; generalized; infantile myofibromatosis; Myofibroma infantiles

History
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Stout, 1954 (under the name fibromatosis, congenital, generalized)

Definition
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Rare benign clinical picture of congenital fibromatosis with good prognosis as well as pericytic, glomoid or myoblastoid differentiation (see also hemangiopericytoma, infantile). Prognostically, the disease is only alarming if systemic infestation is detectable within the first months of life, as vital organs are displaced by tumor growth.

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Gianotti-crosti syndrome

Reactive, episodic, symmetric, papular, self-limited exanthema in young children that has been described pr...

Occurrence/Epidemiology
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Although rare, it is the most common disease among congenital fibromatoses (classification). Familial occurrence is known. Female infants tend to have a more frequent systemic occurrence.

Etiopathogenesis
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The frequently detectable pericytic or glomoid differentiation in myofibromas suggests that infantile hemangiopericytoma and infantile myofibromatosis are closely related entities whose etiology has not yet been conclusively clarified. The clinical course and pattern of infestation are identical for both diseases. Mutations in the platelet-derived-growth-factor receptor beta (PDGFRB), which promotes the growth of mesenchymal cells, including vessels and smooth muscles, were found to be the cause. This mutation is not detectable in non-family forms.

Manifestation
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Congenital (50% of cases) or acquired in the first two years of life.

Localization
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Head and neck, shoulder region, tongue and visceral organs (mediastinum, abdomen).

Clinical features
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Solitary but also multiple, firm, 0.5-2 cm or larger, occasionally painful, flat nodules or nodular tissue masses that can only be detected by palpation and are located in the deep dermis and subcutis. Tumour masses can have a red or bread-brown skin surface. Skeletal changes are found in more than 50% of patients in the form of lytic metaphyseal lesions. Multicentric appearance must not be interpreted as a sign of metastasis.

Histology
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In the deep dermis or subcutaneously localized, blurred, nodular or ligamentous mostly (in contrast to the HP of the adult) biphasic tumor clusters. In addition to densely packed areas of spindle cells with spindle-shaped chromatin-rich nuclei, there are less cell-rich areas with clumsy myofibroblast-like elements enclosed in a hyalinized connective tissue matrix. Significant mitosis rate. Regarding the histological division see below. Myofibroma, dermal (adult).

Immunohistology: Tumor cells are vimentin and alpha-SMA positive, desmin and FXIIIa negative.

Therapy
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Waiting behaviour recommended. Surgical measures only in emergency situations.

Progression/forecast
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In the first months of life, tumor volumes tend to progress rapidly (as in infantile hemangiomas! They are self-limited in growth like these and regress via apoptosis! Patients with organ infestation have a higher mortality (compression of vital organs) in the first 4 months of life than non-infected patients.

Literature
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Gandhi MM et al (2003) Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy.J Pediatr Hematol Oncol 25: 750-754
Ikediobi NI et al (2003) Infantile myofibromatosis: support for autosomal dominant inheritance. J Am Acad Dermatol 49(2 Suppl Case Reports): 148-450
Jurcic V et al (2003) Infantile myofibroma in a prematurely born twin: a case report. Pediatric Dermatol 20: 345-349
Langer J et al (2002) Infantile myofibromatosis of the tongue - a case report. Laryngorhinootology 81: 422-425
Spadola L et al (2002) Generalised infantile myofibromatosis with intracranial involvement: imaging findings in a newborn. Pediatric radiol 32: 872-874
Standford D et al (2000) Dermatological presentations of infantile myofibromatosis: a review of 27 cases. Australas J Dermatol 41: 156-161