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Skin tags

MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Synonyms: Acrochorda
SNOMED CT: Tag (80801001); Skin tag (201091002); Achrochordon (201091002); Soft papilloma (201091002); SKT - Skin tag (201091002); Soft fibroma (201091002); Fibroepithelial polyp (31069005); Fibroepithelial papilloma (31069005); Skin tag (31069005); Acrochordon (31069005); Cutaneous tag (31069005); Cutaneous polyp (31069005)
 
HPO: HP:0010609

Definition

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. [from HPO]

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome (BRRS; 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations (Blumenthal and Dennis, 2008). Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015). Blumenthal and Dennis (2008) provided a detailed review of PTEN hamartoma tumor syndromes. Genetic Heterogeneity of Cowden Syndrome Also see Cowden syndrome-2 (CWS2; 612359), caused by mutation in the SDHB gene (185470) on chromosome 1p36; CWS3 (615106), caused by mutation in the SDHD gene (602690) on chromosome 11q23; CWS4 (615107), caused by hypermethylation of the promoter of the KLLN gene (612105), which shares the same transcription site as the PTEN gene, on chromosome 10q23; CWS5 (615108), caused by mutation in the PIK3CA gene (171834) on chromosome 3q26; CWS6 (615109), caused by mutation in the AKT1 gene (164730) on chromosome 14q32; and CWS7 (616858), caused by mutation in the SEC23B gene (610512) on chromosome 20p11.
Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.
FG syndrome
MedGen UID:
113106
Concept ID:
C0220769
Disease or Syndrome
The phenotypic spectrum of MED12-related disorders, which is still being defined, includes at a minimum the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), and X-linked Ohdo syndrome. FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. X-linked Ohdo syndrome (XLOS) is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some affected females – have been described.
Lhermitte-Duclos disease
MedGen UID:
140251
Concept ID:
C0391826
Congenital Abnormality
A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms. (from WHO)
CEREBELLOPARENCHYMAL DISORDER VI
MedGen UID:
331813
Concept ID:
C1834711
Disease or Syndrome
Cerebellar Granule Cell Hypertrophy and Megalencephaly
MedGen UID:
371886
Concept ID:
C1834712
Disease or Syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
MedGen UID:
371972
Concept ID:
C1835087
Disease or Syndrome
Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007).
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
MedGen UID:
342803
Concept ID:
C1853144
Disease or Syndrome
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.
Proteus-like syndrome
MedGen UID:
356222
Concept ID:
C1866398
Disease or Syndrome
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group.
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome

Recent clinical studies

Etiology

Seleit I, Bakry OA, Samaka RM, Samy M
Ultrastruct Pathol 2015;39(4):235-44. Epub 2015 Apr 10 doi: 10.3109/01913123.2015.1006744. PMID: 25860907
Bakry OA, Samaka RM, Shoeib MA, Maher A
Ultrastruct Pathol 2014 Oct;38(5):344-57. Epub 2014 May 15 doi: 10.3109/01913123.2014.911788. PMID: 24830664
Shaheen MA, Abdel Fattah NS, Sayed YA, Saad AA
J Eur Acad Dermatol Venereol 2012 Dec;26(12):1552-7. Epub 2011 Dec 22 doi: 10.1111/j.1468-3083.2011.04401.x. PMID: 22188415
Sari R, Akman A, Alpsoy E, Balci MK
Clin Exp Med 2010 Sep;10(3):193-7. Epub 2009 Dec 24 doi: 10.1007/s10238-009-0086-5. PMID: 20033751
Sudy E, Urbina F, Maliqueo M, Sir T
J Dtsch Dermatol Ges 2008 Oct;6(10):852-5, 852-6. Epub 2008 Apr 4 doi: 10.1111/j.1610-0387.2008.06720.x. PMID: 18397315

Diagnosis

Shaheen MA, Abdel Fattah NS, Sayed YA, Saad AA
J Eur Acad Dermatol Venereol 2012 Dec;26(12):1552-7. Epub 2011 Dec 22 doi: 10.1111/j.1468-3083.2011.04401.x. PMID: 22188415
Sari R, Akman A, Alpsoy E, Balci MK
Clin Exp Med 2010 Sep;10(3):193-7. Epub 2009 Dec 24 doi: 10.1007/s10238-009-0086-5. PMID: 20033751
Fredriksson CH, Ilias M, Anderson CD
Dermatol Online J 2009 Feb 15;15(2):9. PMID: 19336026
Roth DA, Hildesheimer M, Bardenstein S, Goidel D, Reichman B, Maayan-Metzger A, Kuint J
Pediatrics 2008 Oct;122(4):e884-90. doi: 10.1542/peds.2008-0606. PMID: 18829787
Sudy E, Urbina F, Maliqueo M, Sir T
J Dtsch Dermatol Ges 2008 Oct;6(10):852-5, 852-6. Epub 2008 Apr 4 doi: 10.1111/j.1610-0387.2008.06720.x. PMID: 18397315

Therapy

Cross T, Bartlett L, Mushaya C, Ashour M, Ho YH
Int Surg 2012 Apr-Jun;97(2):112-9. doi: 10.9738/CC92.1. PMID: 23102076Free PMC Article
Mohanty PH, Sood V, Saubermann LJ
Pediatr Ann 2012 Jun;41(6):10-2. doi: 10.3928/00904481-20120525-10. PMID: 22694227
Fredriksson CH, Ilias M, Anderson CD
Dermatol Online J 2009 Feb 15;15(2):9. PMID: 19336026
Allegue F, Fachal C, Pérez-Pérez L
Dermatol Online J 2008 Mar 15;14(3):18. PMID: 18627719
Boccasanta P, Venturi M, Roviaro G
Int J Colorectal Dis 2007 Mar;22(3):245-51. Epub 2006 Oct 5 doi: 10.1007/s00384-006-0196-4. PMID: 17021748

Prognosis

Mohanty PH, Sood V, Saubermann LJ
Pediatr Ann 2012 Jun;41(6):10-2. doi: 10.3928/00904481-20120525-10. PMID: 22694227
El Safoury OS, Abdel Hay RM, Fawzy MM, Kadry D, Amin IM, Abu Zeid OM, Rashed LA
Indian J Dermatol Venereol Leprol 2011 Sep-Oct;77(5):577-80. doi: 10.4103/0378-6323.84061. PMID: 21860156
Roth DA, Hildesheimer M, Bardenstein S, Goidel D, Reichman B, Maayan-Metzger A, Kuint J
Pediatrics 2008 Oct;122(4):e884-90. doi: 10.1542/peds.2008-0606. PMID: 18829787
Erdoğan BS, Aktan S, Rota S, Ergin S, Evliyaoğlu D
J Dermatol 2005 May;32(5):371-5. PMID: 16043900
Sabri M, Davie J, Orlando S, Di Lorenzo C, Ranganathan S
J Pediatr Gastroenterol Nutr 2004 Nov;39(5):564-6. PMID: 15572902

Clinical prediction guides

Seleit I, Bakry OA, Samaka RM, Samy M
Ultrastruct Pathol 2015;39(4):235-44. Epub 2015 Apr 10 doi: 10.3109/01913123.2015.1006744. PMID: 25860907
Bakry OA, Samaka RM, Shoeib MA, Maher A
Ultrastruct Pathol 2014 Oct;38(5):344-57. Epub 2014 May 15 doi: 10.3109/01913123.2014.911788. PMID: 24830664
El Safoury OS, Abdel Hay RM, Fawzy MM, Kadry D, Amin IM, Abu Zeid OM, Rashed LA
Indian J Dermatol Venereol Leprol 2011 Sep-Oct;77(5):577-80. doi: 10.4103/0378-6323.84061. PMID: 21860156
Bonheur JL, Braunstein J, Korelitz BI, Panagopoulos G
Inflamm Bowel Dis 2008 Sep;14(9):1236-9. doi: 10.1002/ibd.20458. PMID: 18452201
Gerjy R, Nyström PO
Colorectal Dis 2007 Oct;9(8):754-7. Epub 2007 May 17 doi: 10.1111/j.1463-1318.2007.01237.x. PMID: 17509050

Recent systematic reviews

Bustan RS, Wasim D, Yderstræde KB, Bygum A
Dan Med J 2017 Jan;64(1) PMID: 28007053
Yang J, Cui PJ, Han HZ, Tong DN
World J Gastroenterol 2013 Aug 7;19(29):4799-807. doi: 10.3748/wjg.v19.i29.4799. PMID: 23922480Free PMC Article
Gao XH, Fu CG, Nabieu PF
World J Surg 2010 Feb;34(2):344-52. doi: 10.1007/s00268-009-0295-9. PMID: 20012615
Brühl W; German Society of Coloproctology.; German Society of Dermatology.
J Dtsch Dermatol Ges 2006 Oct;4(10):892-3. doi: 10.1111/j.1610-0387.2006.06086.x. PMID: 17010181
Radack K, Park S
J Gen Intern Med 1993 Aug;8(8):413-21. PMID: 8410406

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