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Subcutaneous neurofibroma

MedGen UID:
741742
Concept ID:
C1827970
Neoplastic Process
Synonym: Subcutaneous neurofibromas
SNOMED CT: Neurofibroma of subcutaneous tissue (425327002); Subcutaneous neurofibroma (425327002)
 
HPO: HP:0100698

Definition

A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region). [from HPO]

Term Hierarchy

Conditions with this feature

Chromosome 17q11.2 deletion syndrome, 1.4Mb
MedGen UID:
1726802
Concept ID:
C5401456
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Professional guidelines

PubMed

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Stino AM, Naddaf E, Dyck PJ, Dyck PJB
Muscle Nerve 2021 Feb;63(2):157-169. Epub 2020 Sep 11 doi: 10.1002/mus.27046. PMID: 32914902
Arnold MJ, Keung JJ, McCarragher B
Am Fam Physician 2019 May 1;99(9):547-556. PMID: 31038901

Recent clinical studies

Etiology

García-Martínez FJ, Alfageme F, Duat-Rodríguez A, Andrés Esteban EM, Hernández-Martín A
Ultraschall Med 2023 Apr;44(2):e118-e125. Epub 2021 Nov 24 doi: 10.1055/a-1640-9621. PMID: 34820795
Mandell GA, Herrick WC, Harcke HT, Sharkey C, Brooks KM, MacEwen GD
Radiology 1985 Dec;157(3):803-6. doi: 10.1148/radiology.157.3.3933050. PMID: 3933050

Diagnosis

García-Martínez FJ, Alfageme F, Duat-Rodríguez A, Andrés Esteban EM, Hernández-Martín A
Ultraschall Med 2023 Apr;44(2):e118-e125. Epub 2021 Nov 24 doi: 10.1055/a-1640-9621. PMID: 34820795
Abdolrahimzadeh S, Piraino DC, Plateroti R, Scuderi G, Recupero SM
Ophthalmic Genet 2016 Jun;37(2):214-6. Epub 2015 Sep 2 doi: 10.3109/13816810.2015.1020560. PMID: 26331193
Krol EM, El-Fanek H, Borruso J
Conn Med 2015 Apr;79(4):217-9. PMID: 26259300
Chu YW, Cheuk DK, Chung BH, Bowers NL, Ha SY, Chiang AK, Chan GC
BMJ Case Rep 2014 Nov 18;2014 doi: 10.1136/bcr-2014-203919. PMID: 25406210Free PMC Article

Clinical prediction guides

García-Martínez FJ, Alfageme F, Duat-Rodríguez A, Andrés Esteban EM, Hernández-Martín A
Ultraschall Med 2023 Apr;44(2):e118-e125. Epub 2021 Nov 24 doi: 10.1055/a-1640-9621. PMID: 34820795
Mandell GA, Herrick WC, Harcke HT, Sharkey C, Brooks KM, MacEwen GD
Radiology 1985 Dec;157(3):803-6. doi: 10.1148/radiology.157.3.3933050. PMID: 3933050

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