IDF
MCID: INF046
MIFTS: 32

Infantile Digital Fibromatosis (IDF)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Infantile Digital Fibromatosis

MalaCards integrated aliases for Infantile Digital Fibromatosis:

Name: Infantile Digital Fibromatosis 20 58 70
Inclusion Body Fibromatosis 58 17
Asymptomatic Nodular Proliferation of Fibrous Tissue on the Dorsal and Lateral Aspects of the Fingers or Toes 20
Recurring Digital Fibrous Tumor of Childhood 58
Reye Tumor 58
Idf 20

Characteristics:

Orphanet epidemiological data:

58
infantile digital fibromatosis
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 M72.8
UMLS via Orphanet 71 C1318562
Orphanet 58 ORPHA199267
UMLS 70 C1318562

Summaries for Infantile Digital Fibromatosis

MalaCards based summary : Infantile Digital Fibromatosis, also known as inclusion body fibromatosis, is related to fibromatosis and fibroma. An important gene associated with Infantile Digital Fibromatosis is CNN1 (Calponin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. Related phenotypes are skin nodule and hyperkeratosis

Wikipedia : 73 Infantile digital fibromatosis usually occurs as a small, asymptomatic, nodular, dermal fibrous... more...

Related Diseases for Infantile Digital Fibromatosis

Diseases related to Infantile Digital Fibromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 31.4 VIM DES
2 fibroma 29.8 VIM FLNA DES
3 diabetes mellitus 10.2
4 lipid metabolism disorder 10.2
5 chromosome 2q35 duplication syndrome 10.2
6 benign breast phyllodes tumor 10.2
7 breast malignant phyllodes tumor 10.2
8 hyperglycemia 10.1
9 hypertriglyceridemia, familial 10.1
10 post-traumatic stress disorder 10.1
11 diabetic neuropathy 10.1
12 terminal osseous dysplasia 10.0
13 herpes simplex 10.0
14 keloid disorder 10.0
15 primitive neuroectodermal tumor of the cervix uteri 10.0 VIM DES
16 lymphangiomatosis 10.0 VIM DES
17 congenital epulis 10.0 VIM DES
18 epulis 10.0 VIM DES
19 benign metastasizing leiomyoma 10.0 VIM DES
20 leiomyoma 10.0 VIM DES
21 cutaneous leiomyosarcoma 10.0 VIM DES
22 leiomyosarcoma 10.0 VIM DES
23 parachordoma 10.0 VIM DES
24 chordoma 10.0 VIM DES
25 syringocystadenoma papilliferum 10.0 VIM DES
26 angiolipoma 10.0 VIM DES
27 glomangioma 10.0 VIM DES
28 spindle cell lipoma 10.0 VIM DES
29 reticulum cell sarcoma 10.0 VIM DES
30 embryonal sarcoma 10.0 VIM DES
31 ossifying fibromyxoid tumor 10.0 VIM DES
32 biphasic synovial sarcoma 10.0 VIM DES
33 chondromyxoid fibroma 10.0 VIM DES
34 epithelioid leiomyosarcoma 10.0 VIM DES
35 syringoma 10.0 VIM DES
36 medulloepithelioma 10.0 VIM DES
37 congenital fibrosarcoma 10.0 VIM DES
38 fibrosarcoma 10.0 VIM DES
39 arteries, anomalies of 10.0
40 type 2 diabetes mellitus 10.0
41 body mass index quantitative trait locus 1 10.0
42 lipoprotein quantitative trait locus 10.0
43 covid-19 10.0
44 bacterial infectious disease 10.0
45 gestational diabetes 10.0
46 pleomorphic liposarcoma 10.0 VIM DES
47 liposarcoma 10.0 VIM DES
48 adenosarcoma 10.0 VIM DES
49 sarcomatoid mesothelioma 10.0 VIM DES
50 perivascular epithelioid cell tumor 10.0 VIM DES

Graphical network of the top 20 diseases related to Infantile Digital Fibromatosis:



Diseases related to Infantile Digital Fibromatosis

Symptoms & Phenotypes for Infantile Digital Fibromatosis

Human phenotypes related to Infantile Digital Fibromatosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin nodule 58 31 obligate (100%) Obligate (100%) HP:0200036
2 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
3 epidermal acanthosis 58 31 frequent (33%) Frequent (79-30%) HP:0025092
4 parakeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0001036
5 pain 58 31 very rare (1%) Very rare (<4-1%) HP:0012531

GenomeRNAi Phenotypes related to Infantile Digital Fibromatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 DES FLNA VIM

Drugs & Therapeutics for Infantile Digital Fibromatosis

Search Clinical Trials , NIH Clinical Center for Infantile Digital Fibromatosis

Genetic Tests for Infantile Digital Fibromatosis

Anatomical Context for Infantile Digital Fibromatosis

Publications for Infantile Digital Fibromatosis

Articles related to Infantile Digital Fibromatosis:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Inclusion body fibromatosis - A report of four cases and review of literature. 61
33565473 2021
2
Case of infantile digital fibromatosis treated with topical tacrolimus. 61
32945568 2020
3
Infantile digital fibromatosis successfully treated with topical imiquimod 5% combined with methylprednisolone aceponate 0.1. 61
32657516 2020
4
Disabled fingers due to infantile digital fibromatosis: A report of two cases with residual functional joint deformity. 61
32975351 2020
5
Non-malignant fibroblastic/myofibroblastic tumors in pediatric age group: Clues and pitfalls to the cytological diagnosis. 61
32034815 2020
6
Infantile digital fibromatosis: Clues and pitfalls for cytological diagnosis. 61
31125461 2019
7
Clinical features and management of superficial fibromatoses. 61
30865379 2019
8
Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas. 61
30168171 2018
9
The Use of Cryotherapy to Treat Infantile Digital Fibromatosis with a Functional Deficit: A Case Report. 61
29734898 2018
10
Infantile digital fibromatosis-like tumor of adult. 61
29319280 2018
11
An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report. 61
29780440 2018
12
Case of infantile digital fibromatosis: Observation of its dermoscopic features. 61
27859517 2017
13
Benign Nerve Sheath Myxoma in an Infant Misdiagnosed as Infantile Digital Fibromatosis. 61
27196676 2016
14
Infantile Digital Fibromatosis: A Rare Case Report. 61
27057032 2016
15
An unknown mass: the differential diagnosis of digit tumors. 61
26235189 2015
16
Infantile digital fibromatosis: a rare myofibrocytic tumor with characteristic histopathology. 61
25482706 2014
17
Case report of an ulcerated infantile digital fibromatosis in an older child. The lump to spot in the child's hand (a spot not to lump in with the others). 61
23578982 2014
18
Anti-calponin 1 antibodies highlight intracytoplasmic inclusions of infantile digital fibromatosis. 61
24117680 2014
19
[Infantile digital fibromatosis]. 61
24635964 2014
20
[Atypical presentation of infantile digital fibromatosis]. 61
24612583 2014
21
The wonderful colors of the hematoxylin-eosin stain in diagnostic surgical pathology. 61
24406626 2014
22
A case of infantile digital fibromatosis: differential diagnosis and treatment. 61
23330824 2014
23
Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report. 61
24426970 2013
24
Infantile digital fibromatosis. 61
23241193 2013
25
Infantile digital fibromatosis (inclusion body fibromatosis) observed in a baby without finger involvement. 61
23716832 2013
26
Infantile digital fibromatosis: a rare tumour of infancy. Report of five cases. 61
23157779 2012
27
Case for diagnosis. 61
22714775 2012
28
[Inclusion body fibromatosis: a case report]. 61
22284231 2012
29
[Inclusion body fibromatosis: report of a case]. 61
22455853 2012
30
Intra-lesional steroid for the management of symptomatic Infantile Digital Fibromatosis. 61
20937573 2011
31
Infantile digital fibromatosis: our experience and long-term results. 61
21276743 2011
32
Key cytological findings in FNA from infantile digital fibromatosis. 61
21986179 2011
33
Morphological spectrum of inclusion body fibromatosis: a rare case report. 61
21045432 2010
34
[Solid, asymptomatic nodules on several toes in a child]. 61
20711554 2010
35
Congenital infantile digital fibromatosis: a case report and review of the literature. 61
21139926 2009
36
From the archives of the AFIP: musculoskeletal fibromatoses: radiologic-pathologic correlation. 61
19926768 2009
37
Beta-catenin expression in pediatric fibroblastic and myofibroblastic lesions: a study of 100 cases. 61
18939887 2009
38
Non-malignant fibrosing tumors in the pediatric hand: a clinicopathologic case review. 61
19048350 2009
39
Infantile digital fibromatosis. 61
18812724 2008
40
Infantile digital fibromatosis. 61
18571599 2008
41
Benign phyllodes tumor of the breast with intracytoplasmic inclusion bodies identical to infantile digital fibromatosis. 61
18266786 2008
42
A range of histologic findings in infantile digital fibromatosis. 61
18304159 2008
43
Bilateral presentation of fibroadenoma with digital fibroma-like inclusions in the male breast. 61
17617003 2007
44
An unusual congenital presentation of infantile digital fibromatosis. 61
17535189 2007
45
Further documentation of spontaneous regression of infantile digital fibromatosis. 61
17542881 2007
46
Infantile digital fibromatosis. 61
17273037 2007
47
Leiomyoma of the gastrointestinal tract with intracytoplasmic inclusion bodies. Report of three cases. 61
16955562 2006
48
[Inclusion body fibromatosis: a case report]. 61
16777010 2006
49
Intralesional fluorouracil injection in infantile digital fibromatosis. 61
15897374 2005
50
Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome. 61
15864382 2005

Variations for Infantile Digital Fibromatosis

Expression for Infantile Digital Fibromatosis

Search GEO for disease gene expression data for Infantile Digital Fibromatosis.

Pathways for Infantile Digital Fibromatosis

Pathways related to Infantile Digital Fibromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 VIM FLNA DES CNN1
2
Show member pathways
11.36 VIM DES
3 11.23 DES CNN1
4 11.01 VIM DES
5
Show member pathways
10.61 VIM DES

GO Terms for Infantile Digital Fibromatosis

Cellular components related to Infantile Digital Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.37 VIM DES
2 cell-cell junction GO:0005911 9.32 FLNA DES
3 Z disc GO:0030018 9.26 FLNA DES
4 intermediate filament cytoskeleton GO:0045111 9.16 VIM DES
5 focal adhesion GO:0005925 9.13 VIM FLNA CNN1
6 cytoskeleton GO:0005856 8.92 VIM FLNA DES CNN1

Biological processes related to Infantile Digital Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 9.16 VIM FLNA
2 muscle filament sliding GO:0030049 8.96 VIM DES
3 intermediate filament organization GO:0045109 8.62 VIM DES

Molecular functions related to Infantile Digital Fibromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 VIM DES

Sources for Infantile Digital Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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