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Inclusion body fibromatosis

MedGen UID:
232929
Concept ID:
C1318562
Neoplastic Process
Synonyms: Inclusion body fibromatosis (disease); Infantile digital fibromatosis
SNOMED CT: Infantile digital fibromatosis (399903008); Reye tumor (399903008); Infantile digital fibroma (399903008); Infantile digital myofibroblastoma (399903008)
 
HPO: HP:0025197
Monarch Initiative: MONDO:0016039
Orphanet: ORPHA199267

Definition

A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInclusion body fibromatosis
Follow this link to review classifications for Inclusion body fibromatosis in Orphanet.

Recent clinical studies

Etiology

Murphey MD, Ruble CM, Tyszko SM, Zbojniewicz AM, Potter BK, Miettinen M
Radiographics 2009 Nov;29(7):2143-73. doi: 10.1148/rg.297095138. PMID: 19926768

Diagnosis

Adegoke OO, Ajao AE, Ano-Edward GH
Afr Health Sci 2020 Dec;20(4):1865-1869. doi: 10.4314/ahs.v20i4.42. PMID: 34394250Free PMC Article
Chan JK
Int J Surg Pathol 2014 Feb;22(1):12-32. Epub 2014 Jan 9 doi: 10.1177/1066896913517939. PMID: 24406626
Ojha SS, Naik LP, Fernandes GC, Sathe PA, Kandalkar BM
Acta Cytol 2011;55(5):481-4. Epub 2011 Oct 8 doi: 10.1159/000330679. PMID: 21986179
Suryawanshi P, Rekhi B, Jambhekar NA
Indian J Pathol Microbiol 2010 Oct-Dec;53(4):827-8. doi: 10.4103/0377-4929.72062. PMID: 21045432
Murphey MD, Ruble CM, Tyszko SM, Zbojniewicz AM, Potter BK, Miettinen M
Radiographics 2009 Nov;29(7):2143-73. doi: 10.1148/rg.297095138. PMID: 19926768

Prognosis

Ng WK, Poon CS, Lau MY, Li SM, Ma L
Ultrastruct Pathol 1999 May-Jun;23(3):199-205. doi: 10.1080/019131299281716. PMID: 10445288

Clinical prediction guides

Chan JK
Int J Surg Pathol 2014 Feb;22(1):12-32. Epub 2014 Jan 9 doi: 10.1177/1066896913517939. PMID: 24406626
Pettinato G, Manivel JC, Gould EW, Albores-Saavedra J
Am J Clin Pathol 1994 Jun;101(6):714-8. doi: 10.1093/ajcp/101.6.714. PMID: 8209857

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