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Congenital Generalized Fibromatosis

Infantile Myofibromatosis


Presentation

  • Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis. The histopathological findings are presented and the differential diagnosis is discussed.[ncbi.nlm.nih.gov]
  • Including the present example, 63 cases have been reported.[ncbi.nlm.nih.gov]
  • Because these characteristics are also present in the more common hemangiomas of infancy, congenital fibromatosis can be diagnosed erroneously as hemangioma.[ncbi.nlm.nih.gov]
  • Focal areas of calcification may be present. Mild to moderate nuclear pleomorphism can be found in most lesions. Normal mitotic figures may be quite common. Abnormal mitotic figures are usually not present.[histopathology-india.net]
  • A report of 2 cases of solitary fibromatosis in a 10-day-old boy and a girl 3 years and 10 months old is presented.[ncbi.nlm.nih.gov]
Fishing
  • Using the FISH technique targeting X and Y chromosomes in tissue of myofibromas from male patients, the authors found that tumor cells are not derived from maternal cells.) Fukasawa, Y, Ishikura, H, Takada, A, Yokoyama, S.[dermatologyadvisor.com]
Localized Pain
  • pain Solitary Sacrum No Surgical removal Good Asirvatham et al, 1994 18 years, M Local pain Solitary Spinal cord (C2) No Surgical removal Good Tamburrini et al, 2003 4 months, M Spastic paraparesis Solitary (intramedullary) Spinal cord (C7-conus) Yes[thieme-connect.com]
Subcutaneous Nodule
  • Cellular components of a subcutaneous nodule from a male infant with congenital generalized fibromatosis consisted of myofibroblasts, fibroblasts, and their various intermediate types.[ncbi.nlm.nih.gov]
  • ., 1981, 134 (4), 431-445-Cellular components of a subcutaneous nodule from a male infant with congenital generalized fibromatosis consisted of myofibroblasts, fibroblasts, and their various intermediate types.[jstage.jst.go.jp]
Contusion
  • Such properties may be useful for forensics investigation when contusions were induced, Soft tissues have the potential to undergo big deformations and still come back to the initial configuration when unloaded, i. e. their stress-strain curve is nonlinear[wikivisually.com]
Long Arm
  • The CCND1 gene encodes the cyclin D1 protein, the human CCNDI gene is located on the long arm of chromosome 11.[wikivisually.com]
Flaccid Paralysis
  • An unusual case of congenital generalized fibromatosis in which involvement of the spinal dura mater was accompanied by flaccid paralysis in the lower limbs is presented.[ncbi.nlm.nih.gov]
Excitement
  • This exciting new, full-color reference provides you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children with cancer.[books.google.com]

Workup

Multiple Lytic Bone Lesions
  • Though a rare disorder, IM must be suspected when evaluating children who present with either multiple lytic bone lesion or solitary/multiple tumors in the soft tissues, particularly during the neonatal or infancy period .Early surgical decompression[thieme-connect.com]

Treatment

  • Solitary lesions often do not regress without treatment and can have a high incidence of recurrence with less than marginal excision. Multiple osseous lesions often regress without treatment.[ncbi.nlm.nih.gov]
  • Treatment Options Treatment options are summarized in Table I . Table I.[dermatologyadvisor.com]
  • Previous case reports have depicted observation, surgical resection, and systemic therapies as treatment options.[ingentaconnect.com]
  • Treatment - Congenital generalized fibromatosis Not supplied.[checkorphan.org]

Prognosis

  • If the fibromas involve only the skin and skeleton and not the viscera, the disease is known as congenital multiple fibromatosis, and the prognosis is excellent.[ncbi.nlm.nih.gov]
  • Congenital generalized fibromatosis is a rare condition which is often misdiagnosed and given an erroneously poor prognosis. Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis.[ncbi.nlm.nih.gov]
  • Fifteen prior cases with pulmonary involvement are reviewed, emphasizing the poor prognosis associated with pulmonary lesions.[ncbi.nlm.nih.gov]
  • Solitary or multicentric lesions confined to skin, soft tissues or bone has a good prognosis. These are usually cured by simple excision.[histopathology-india.net]
  • All of these cases have an excellent prognosis with their tumors sometimes regressing spontaneously except for those cases in which there is visceral involvement where the prognosis is poor. [3] Infantile myofibromatosis and the classic form of mesoblastic[en.wikipedia.org]

Etiology

  • Possible etiologic factors are discussed, with suggestions for additional studies in future cases.[ncbi.nlm.nih.gov]
  • Etiology The etiology remains unknown. Pathophysiology Increased estrogen receptors in smooth muscle cells leading to in utero stimulation by maternal hormones have been postulated.[dermatologyadvisor.com]
  • […] removal Good Eun Ji Kim, et al, 2013 8 months, F Paraplegia Solitary Spinal cord (T6-conus) Yes Partial removal Good Present case 18 months, M Paraparesis, bladder dysfunction Solitary (intramedullary) Spinal cord (T1–2) Yes Complete removal Good The etiology[thieme-connect.com]
  • ., who described the etiology as specific genetic alteration, that is, pericentric inversion (8) (p11.2; q22,) and can also be due to fetal alcohol syndrome and fetal hydentoin syndrome. [3], [4] AS is characterized by increase in vellous type of hair[jisppd.com]
  • JHF is a rare, crippling autosomal-recessive disorder, first described by Mc Murray in 1873 as molluscum fibrosum and renamed by Kitano as JHF in 1972. [1], [2] The etiology of JHF is unknown. The gene that causes JHF has been mapped to 4q21.[e-ijd.org]

Epidemiology

  • Updated Molecular and Epidemiologic diagrams added to all new chapters.[books.google.com]
  • […] termed myopericytoma and infantile hemangiopericytoma Definitions • Benign neoplasms composed of lobules of myoid cells separated by vascularized zones (biphasic pattern) Solitary form (myofibroma) Multicentric form (myofibromatosis) CLINICAL ISSUES Epidemiology[basicmedicalkey.com]
  • The longer wavelength Nd: YAG laser is considered safest in treating darker skin phototypes. [6] Reporting such rare syndromes not only adds to the database, but pooled data analysis may give us a better insight into patterns of inheritance, epidemiology[ijdvl.com]
Sex distribution
Age distribution

Pathophysiology

  • It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of childhood cancers, including aspects important in optimal supportive care.[books.google.com]
  • Pathophysiology Increased estrogen receptors in smooth muscle cells leading to in utero stimulation by maternal hormones have been postulated.[dermatologyadvisor.com]

Prevention

  • Prevention - Congenital generalized fibromatosis Not supplied.[checkorphan.org]
  • The grossly enlarged labial gingiva may prevent the closure of the lips and bilateral enlargement of the palatal mucosa may meet in the midline. [8] A variety of dental findings have been described in relation to congenital hypertrichosis lanuginose,[jisppd.com]
  • No treatment was given postoperatively to prevent desmoid tumor recurrence. After a 1-year follow-up, no recurrence was observed.[pancreas.imedpub.com]

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