Desmoid tumor

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.



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Narrow down the case reports



Total: 405 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(42.7%)
29455674
(5817795)
Aggressive fibromatosis in the infratemporal fossa presenting as trismus: a case report.
Munakomi S.
J Med Case Rep. 2018;12(1):41.
Trismus
Adult Differential Diagnosis Fibromatosis, Aggressive Head and Neck Neoplasms Homo sapiens Magnetic Resonance Imaging Male Trismus X-Ray Computed Tomography Young Adult
1
(42.7%)
23659026
[Aggressive fibromatosis of the head and neck in pediatric age. A case report and review of the literature].
Morillo C, Ruiz Dieguez PR, Navarro M, Galeas Anaya FJ, Ruiz Delgado F, Valiente Alvarez A, Bermudo Anino L.
Cir Pediatr. 2012;25(4):213-7.
Trismus
Child Females Fibromatosis, Aggressive Head and Neck Neoplasms Homo sapiens
1
(42.7%)
22907827
Aggressive fibromatosis in the head and neck region: Benign tumor with often mutilating effects.
Hendriks MP, Driessen CM, van Laarhoven HW, Janssens GO, Verbist BM, van der Graaf WT, Slootweg PJ, Merkx MA, van Herpen CM.
Head Neck. 2013;35(8):E246-50.
Trismus
Adult Females Fibromatosis, Aggressive Head and Neck Neoplasms Homo sapiens Torticollis Trismus
4
(41.0%)
1766021
Congenital bowing of the ulna and aggressive fibromatosis.
Eady JL, Lundquist JE, Grant RE, Nagel A, Kim DD.
J Natl Med Assoc. 1991;83(11):978-82.
Ulnar bowing
Adult Females Homo sapiens Male
5
(40.9%)
19176167
[Aggressive fibromatosis of the frontal sinus].
Jensen SG, Krogdahl A, Godballe C.
Ugeskr Laeger. 2009;171(5):324-5.
Sinusitis
Differential Diagnosis Females Fibromatosis, Aggressive Frontal Sinusitis Homo sapiens Middle Aged Paranasal Sinus Neoplasms
6
(39.3%)
19142260
Oral and maxillofacial manifestations of familial adenomatous polyposis (Gardner's syndrome): a report of two cases.
de Oliveira Ribas M, Martins WD, de Sousa MH, de Aguiar Koubik AC, Avila LF, Zanferrari FL, Martins G.
J Contemp Dent Pract. 2009;10(1):82-90.
Multiple impacted teeth Osteoma
Adult Child Early Diagnosis Females Gardner Syndrome Homo sapiens Male Mandibular Neoplasms Maxillary Neoplasms Nose Neoplasms Osteoma Panoramic Radiography Skin Neoplasms Skull Base Neoplasms
7
(36.8%)
30417483
Gardner syndrome with maxillofacial manifestation: A case report.
Baldino ME, Koth VS, Silva DN, Figueiredo MA, Salum FG, Cherubini K.
Spec Care Dentist. 2019;39(1):65-71.
Impacted tooth Lipoma
Differential Diagnosis Gardner Syndrome Homo sapiens Male Mandibular Neoplasms Osteoma Panoramic Radiography
8
(35.3%)
17195002
[Desmoid tumor of the parotid gland].
Oudidi A, Hachimi H, El Alami MN.
Rev Stomatol Chir Maxillofac. 2006;107(6):470-3.
Facial paralysis
Adult Females Fibromatosis, Aggressive Homo sapiens Parotid Neoplasms
9
(33.8%)
30050265
(6042173)
Chest Wall Fibromatosis with Congenital Muscular Torticollis: Two Forms of Deep Fibromatosis in a Child.
Anand S, Dhua AK, Bhatnagar V, Kandasamy D, Arava S.
J Indian Assoc Pediatr Surg. 2018;23(3):153-155.
Congenital muscular torticollis
10
(30.6%)
3240083
Aggressive fibromatosis. A rare cause for lumbar bulging.
Oberthaler W, Rhomberg W.
Arch Orthop Trauma Surg. 1988;107(6):388-90.
Hemihypertrophy Scoliosis
Adult Differential Diagnosis Homo sapiens Male Soft Tissue Neoplasms X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0003011 Abnormality of the musculature Very frequent (99-80%)
HP:0004298 Abnormality of the abdominal wall Very frequent (99-80%)
HP:0010614 Fibroma Very frequent (99-80%)
HP:0100245 Desmoid tumors Very frequent (99-80%)
HP:0002024 Malabsorption Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0003326 Myalgia Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0200008 Intestinal polyposis Frequent (79-30%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0001376 Limitation of joint mobility Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002797 Osteolysis Occasional (29-5%)
HP:0002829 Arthralgia Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0008069 Neoplasm of the skin Occasional (29-5%)
HP:0010935 Abnormality of the upper urinary tract Occasional (29-5%)
HP:0100749 Chest pain Occasional (29-5%)
HP:0100806 Sepsis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 82

HPO ID Term # of case reports
HP:0002664 Neoplasm 61
HP:0010614 Fibroma 17
HP:0100242 Sarcoma 14
HP:0030731 Carcinoma 13
HP:0025615 Abscess 9
HP:0031500 Abdominal mass 9
HP:0012032 Lipoma 8
HP:0003002 Breast carcinoma 6
HP:0006000 Ureteral obstruction 5
HP:0010866 Abdominal wall defect 5
HP:0200040 Epidermoid cyst 5
HP:0001028 Hemangioma 4
HP:0003003 Colon cancer 4
HP:0005200 Retroperitoneal fibrosis 4
HP:0100008 Schwannoma 4
HP:0000718 Aggressive behavior 3
HP:0002027 Abdominal pain 3
HP:0002835 Aspiration 3
HP:0002860 Squamous cell carcinoma 3
HP:0031459 Soft tissue neoplasm 3
HP:0100246 Osteoma 3
HP:0100699 Scarring 3
HP:0100790 Hernia 3
HP:0000131 Uterine leiomyoma 2
HP:0002797 Osteolysis 2
HP:0012315 Histiocytoma 2
HP:0000016 Urinary retention 1
HP:0000100 Nephrotic syndrome 1
HP:0000126 Hydronephrosis 1
HP:0000138 Ovarian cyst 1
HP:0000211 Trismus 1
HP:0000488 Retinopathy 1
HP:0000822 Hypertension 1
HP:0000836 Hyperthyroidism 1
HP:0000873 Diabetes insipidus 1
HP:0001067 Neurofibromas 1
HP:0001289 Confusion 1
HP:0001537 Umbilical hernia 1
HP:0001880 Eosinophilia 1
HP:0001903 Anemia 1
HP:0002014 Diarrhea 1
HP:0002015 Dysphagia 1
HP:0002094 Dyspnea 1
HP:0002206 Pulmonary fibrosis 1
HP:0002586 Peritonitis 1
HP:0002650 Scoliosis 1
HP:0002666 Pheochromocytoma 1
HP:0002861 Melanoma 1
HP:0003031 Ulnar bowing 1
HP:0003273 Hip contracture 1
HP:0003302 Spondylolisthesis 1
HP:0003326 Myalgia 1
HP:0003419 Low back pain 1
HP:0003470 Paralysis 1
HP:0003761 Calcinosis 1
HP:0003764 Nevus 1
HP:0004783 Duodenal polyposis 1
HP:0004872 Incisional hernia 1
HP:0005257 Thoracic hypoplasia 1
HP:0005266 Intestinal polyp 1
HP:0006725 Pancreatic adenocarcinoma 1
HP:0007687 Unilateral ptosis 1
HP:0008443 Spinal deformities 1
HP:0009937 Facial hirsutism 1
HP:0010562 Keloids 1
HP:0010566 Hamartoma 1
HP:0010739 Osteopoikilosis 1
HP:0011868 Sciatica 1
HP:0012532 Chronic pain 1
HP:0012735 Cough 1
HP:0025247 Dermoid cyst 1
HP:0030411 Jejunal adenocarcinoma 1
HP:0030431 Osteochondroma 1
HP:0030834 Shoulder pain 1
HP:0031368 Intestinal perforation 1
HP:0031501 Pelvic mass 1
HP:0040276 Adenocarcinoma of the colon 1
HP:0100537 Fasciitis 1
HP:0100570 Carcinoid tumor 1
HP:0100614 Myositis 1
HP:0100621 Dysgerminoma 1
HP:0200008 Intestinal polyposis 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
CTNNB1 catenin beta 1 1499
APC APC regulator of WNT signaling pathway 324