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Ungual fibroma

MedGen UID:
451060
•Concept ID:
C0442880
•
Neoplastic Process
Synonyms: Koenen tumor; Koenen tumour; Koenen's tumor; Koenen's tumour; Parungual fibromas; Periungual fibroma
SNOMED CT: Periungual fibroma (264561009)
 
HPO: HP:0100804

Definition

Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUngual fibroma

Professional guidelines

PubMed

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.
Malissen N, Vergely L, Simon M, Roubertie A, Malinge MC, Bessis D
J Am Acad Dermatol 2017 Sep;77(3):464-472.e3. Epub 2017 May 11 doi: 10.1016/j.jaad.2017.04.005. PMID: 28502378
Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus.
Nathan N, Wang JA, Li S, Cowen EW, Haughey M, Moss J, Darling TN
J Am Acad Dermatol 2015 Nov;73(5):802-8. Epub 2015 Sep 11 doi: 10.1016/j.jaad.2015.07.018. PMID: 26365597Free PMC Article

Recent clinical studies

Etiology

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.
Malissen N, Vergely L, Simon M, Roubertie A, Malinge MC, Bessis D
J Am Acad Dermatol 2017 Sep;77(3):464-472.e3. Epub 2017 May 11 doi: 10.1016/j.jaad.2017.04.005. PMID: 28502378
Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus.
Nathan N, Wang JA, Li S, Cowen EW, Haughey M, Moss J, Darling TN
J Am Acad Dermatol 2015 Nov;73(5):802-8. Epub 2015 Sep 11 doi: 10.1016/j.jaad.2015.07.018. PMID: 26365597Free PMC Article
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM
Hum Mutat 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. PMID: 10215407

Diagnosis

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264
Tuberous sclerosis with cardiac rhabdomyoma manifested by fetal bradycardia: report of a case.
Jan CJ, Wu FF, Sue WC, Chang CH, Lin YH
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1991 May-Jun;32(3):183-90. PMID: 1776443

Therapy

Long-term treatment of cutaneous manifestations of tuberous sclerosis complex with topical 1% sirolimus cream: A prospective study of 25 patients.
Malissen N, Vergely L, Simon M, Roubertie A, Malinge MC, Bessis D
J Am Acad Dermatol 2017 Sep;77(3):464-472.e3. Epub 2017 May 11 doi: 10.1016/j.jaad.2017.04.005. PMID: 28502378
Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus.
Nathan N, Wang JA, Li S, Cowen EW, Haughey M, Moss J, Darling TN
J Am Acad Dermatol 2015 Nov;73(5):802-8. Epub 2015 Sep 11 doi: 10.1016/j.jaad.2015.07.018. PMID: 26365597Free PMC Article

Prognosis

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264

Clinical prediction guides

Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus.
Nathan N, Wang JA, Li S, Cowen EW, Haughey M, Moss J, Darling TN
J Am Acad Dermatol 2015 Nov;73(5):802-8. Epub 2015 Sep 11 doi: 10.1016/j.jaad.2015.07.018. PMID: 26365597Free PMC Article
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
Wang Q, Verhoef S, Tempelaars AM, Bakker PL, Vrtel R, Hesseling-Janssen AL, Nellist M, Oranje AP, Stroink H, Lindhout D, Halley DJ, van den Ouweland AM
Hum Mutat 1998;11(4):331-2. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. PMID: 10215407
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.
Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S
Ann Hum Genet 1998 May;62(Pt 3):203-13. doi: 10.1046/j.1469-1809.1998.6230203.x. PMID: 9803264

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