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infantile digital fibromatosis

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The text is the summary of recent articles on infantile digital fibromatosis at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.


By superficial ultrasonography, Multiple isoechoic hypoechoic lesions were observed among the muscle plan [1]. These findings were diagnosed as infantile digital fibromatosis (IDF) (inclusion body fibromatosis) [2]. Whilst the majority of asymptomatic Infantile Digital Fibromatoses can be safely observed until natural resolution, intra-lesional Corticosteroid is a safe and well-tolerated alternative to surgery for all symptomatic digital fibromatoses of infancy [3]. The etiopathogenesis of infantile digital fibromatosis is unknown [4]. Surgical treatment has been advocated previously but local recurrences were observed frequently [5].

Recent literature supports clinical surveillance without any Medical or surgical intervention as spontaneous regression usually occurs after two to three years [6]. Pediatric fibromatoses represent a heterogeneous group of lesions that are diagnostically challenging, especially on Biopsy [7]. We studied beta-catenin expression in a variety of Pediatric fibroblastic and myofibroblastic lesions [8]. Such expression was not seen in any of the other lesions, including fibrous hamartoma of infancy (0 of 18), juvenile hyaline fibromatosis (0 of 7), infantile digital fibromatosis (0 of 6), myofibromatosis (0 of 5), lipofibromatosis (0 of 4), calcifying aponeurotic fibroma (0 of 3), palmar-plantar fibromatosis (0 of 2), fibromatosis colli (0 of 1), or torticollis (0 of 1) [9]. High-level beta-catenin staining is seen in deep "adult-type" fibromatoses occurring in Children, although to a lesser frequency than in Adult fibromatoses [10].

The Tumor is composed of myofibroblasts, which contain pathognomonic intracellular inclusion bodies [11]. We report three patients, ranging in age from 8 months to 8 years, with infantile digital fibromatosis [12]. Intracytoplasmic inclusion bodies in stromal Cells identical to those seen in infantile digital fibromatosis were identified in one fibroadenoma [13]. Surgical excision had been preferred in the past but has the disadvantage of a high recurrence rate [14]. More recently, isolated instances of spontaneous regression have been reported with a short follow-up [15].

We report four Children with infantile digital fibromatosis, who underwent spontaneous regression after clinical monitoring and long-term follow-up [16]. Surgical Excision was performed in all cases, with no evidence of Recurrence [17]. The authors present a case of a 16-year-old child with an infantile digital fibromatosis on the volar surface of the right little finger at the distal interphalangeal joint level [18]. After Excision of the tumor, histopathologic diagnosis was shown to be infantile digital fibromatosis [19]. These inclusions, characteristic of infantile digital fibromatosis, are comprised of actin filaments [20].

This report illustrates a case of a Benign phyllodes Tumor of the breast with inclusion bodies, identified by fine-needle aspiration [21]. We performed immunohistochemical staining for beta-catenin on 29 superficial fibromatoses (22 Palmar, 5 Plantar, 1 penile, and 1 infantile digital fibromatosis) and 5 deep fibromatoses [22]. Mutations of beta-catenin and APC genes were analyzed in cases of superficial fibromatoses by direct DNA sequencing of the beta-catenin gene on Exon 3 encompassing the GSK-3 36 phosphorylation region and of the APC gene on the Mutation cluster region [23]. No somatic Mutations of beta-catenin or APC genes were identified in any of the superficial fibromatoses [24]. Other similarly presenting fibromatous diseases of infancy and childhood are discussed, including aplasia cutis, infantile fibrosarcoma, recurring infantile digital fibromatosis, and Juvenile aponeurotic fibromatosis [25].

A case of infantile myofibromatosis, solitary type, is reported, and the two Surgical procedures carried out over a 4-year period are described [26]. Japanese cases of infantile digital fibromatosis were reviewed [27]. We present a case of an Atypical cervical polyp with intracytoplasmic inclusions, occurring in a 23 year old Female, and provide support for the proposal that these inclusions are composed of actin filaments, identical to those initially reported in infantile digital fibromatosis [28]. Eosinophilic inclusion bodies near the nucleus of the tumourcells are pathognomonic [29]. Electron microscopic study revealed a variety of stages in the development of inclusion bodies, ranging from small, dense aggregates of filaments into bundles with dense bodies traversing the cytoplasm to typical inclusion bodies that also contained cytoplasmic organelles [30].

The tendency for a decrease in the Number of inclusion bodies in these areas necessitated a differential diagnosis from other fibrous or fibro-histiocytic lesions [31]. Our findings suggest that the Tumor may undergo a decrease in the numbers of inclusion bodies and spontaneously may become fibrotic with time [32]. Thus, even as a form of fibromatosis featuring both Recurrence and multiple lesions, it may not have a consistently aggressive nature [33]. The light and electron microscopic features, as well as the immunohistochemical features, are indistinguishable from those found in infantile digital fibromatosis [34]. The proliferating spindle Cells are characterized as myofibroblasts, whereas the inclusion bodies show an immunohistochemically nonreactive, hollow-like pattern with peripheral reactivity for actin filaments [35].

The inclusion bodies were identified as aggregated actin filaments by modified immunohistochemical and ultrastructural analyses [36]. These structures are thought to be identical to those of the characteristic intracytoplasmic inclusion bodies observed in the case of infantile digital fibromatosis [37]. To date, Tumors with such intracytoplasmic inclusion bodies have been recognized exclusively as infantile digital fibromatosis [38]. Although a few rare cases in which the infantile digital fibromatosis-like Tumor occurred outside the digit or in adulthood, all these cases were in the category of fibromatosis or fibroma [39].

References: 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 ,

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