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Pilomatrixoma(PTR)

MedGen UID:
61666
Concept ID:
C0206711
Neoplastic Process
Synonyms: Calcifying epithelioma of Malherbe; EPITHELIOMA CALCIFICANS OF MALHERBE; Pilomatricoma; Pilomatricoma, somatic; PTR
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Somatic mutation (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: [M]Pilomatrixoma (44155009); Pilomatricoma (44155009); Pilomatrixoma (274901004); Calcifying epithelioma of Malherbe (274901004); Benign calcifying epithelioma of Malherbe (274901004); Pilomatricoma (274901004); Pilomatrixoma (44155009); Calcifying epithelioma of Malherbe (44155009); Benign calcifying epithelioma (44155009)
 
Genes (locations): CTNNB1 (3p22.1); MUTYH (1p34.1)
OMIM®: 132600
HPO: HP:0030434
Orphanet: ORPHA91414

Definition

Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.
[from GHR]

Clinical features

Pilomatrixoma
MedGen UID:
61666
Concept ID:
C0206711
Neoplastic Process
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPilomatrixoma
Follow this link to review classifications for Pilomatrixoma in Orphanet.

Conditions with this feature

Pilomatrixoma
MedGen UID:
61666
Concept ID:
C0206711
Neoplastic Process
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur).Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life.Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Wilson ME, Samara WA, Eagle RC Jr, Shields JA, Shields CL
J Pediatr Ophthalmol Strabismus 2016 May 1;53(3):192. doi: 10.3928/01913913-20160405-03. PMID: 27224956
Zloto O, Fabian ID, Dai VV, Ben Simon GJ, Rosner M
Ophthal Plast Reconstr Surg 2015 Jan-Feb;31(1):19-22. doi: 10.1097/IOP.0000000000000164. PMID: 24801260
Kose D, Ciftci I, Harmankaya I, Ugras S, Caliskan U, Koksal Y
J Cancer Res Ther 2014 Jul-Sep;10(3):549-51. doi: 10.4103/0973-1482.137918. PMID: 25313737
Kwon D, Grekov K, Krishnan M, Dyleski R
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1337-41. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.023. PMID: 24954158
Karaaslan O, Melih Can M, Ozlem Karatas Silistreli A, Kaan Bedir Y, Caliskan G
J Cutan Med Surg 2012 Sep-Oct;16(5):341-3. doi: 10.1177/120347541201600511. PMID: 22971309

Diagnosis

Scheck SM, Bethwaite P, Johnson C, Mogensen O
BMJ Case Rep 2017 Jan 27;2017 doi: 10.1136/bcr-2016-217938. PMID: 28130284
Otero MN, Trujillo CP, Parra-Medina R, Morales SD
Am J Dermatopathol 2017 Mar;39(3):e41-e43. doi: 10.1097/DAD.0000000000000736. PMID: 27673386
Schwarz Y, Pitaro J, Waissbluth S, Daniel SJ
Int J Pediatr Otorhinolaryngol 2016 Jun;85:148-53. Epub 2016 Mar 28 doi: 10.1016/j.ijporl.2016.03.026. PMID: 27240514
Zloto O, Fabian ID, Dai VV, Ben Simon GJ, Rosner M
Ophthal Plast Reconstr Surg 2015 Jan-Feb;31(1):19-22. doi: 10.1097/IOP.0000000000000164. PMID: 24801260
Kwon D, Grekov K, Krishnan M, Dyleski R
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1337-41. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.023. PMID: 24954158

Therapy

Van Gysel D, De Raeve H, Bruylants B
Pediatr Dermatol 2016 May;33(3):347-8. doi: 10.1111/pde.12822. PMID: 27176805
Choi YJ, Lee MJ, Kim N, Choung HK, Khwarg SI, Kim JE
BMC Ophthalmol 2015 Mar 8;15:23. doi: 10.1186/s12886-015-0004-4. PMID: 25880568Free PMC Article
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Gorovoy IR, Layer N, Kim HJ, Nobles SM, Stewart PJ, Vagefi MR, Kersten RC
J AAPOS 2013 Feb;17(1):103-4. Epub 2013 Jan 10 doi: 10.1016/j.jaapos.2012.09.010. PMID: 23313048
Hughes J, Lam A, Rogers M
Pediatr Dermatol 1999 Sep-Oct;16(5):341-4. PMID: 10571829

Prognosis

Karaaslan O, Melih Can M, Ozlem Karatas Silistreli A, Kaan Bedir Y, Caliskan G
J Cutan Med Surg 2012 Sep-Oct;16(5):341-3. doi: 10.1177/120347541201600511. PMID: 22971309
Hassanein AH, Alomari AI, Schmidt BA, Greene AK
J Craniofac Surg 2011 Mar;22(2):734-6. doi: 10.1097/SCS.0b013e318207f29f. PMID: 21415649
Bengtzen AR, Grossniklaus HE, Bernardino CR
Ophthal Plast Reconstr Surg 2009 May-Jun;25(3):229-30. doi: 10.1097/IOP.0b013e3181a146c7. PMID: 19454938
Huerva V, Sanchez MC, Asenjo J
Ophthal Plast Reconstr Surg 2006 Sep-Oct;22(5):401-3. doi: 10.1097/01.iop.0000235816.50701.ba. PMID: 16985434
Khammash MR, Todd DJ, Abalkhail A
Australas J Dermatol 2001 May;42(2):120-3. PMID: 11309036

Clinical prediction guides

Cappellesso R, Bellan A, Saraggi D, Salmaso R, Ventura L, Fassina A
Arch Dermatol Res 2015 May;307(4):379-83. Epub 2014 Dec 17 doi: 10.1007/s00403-014-1530-2. PMID: 25516090
Kwon D, Grekov K, Krishnan M, Dyleski R
Int J Pediatr Otorhinolaryngol 2014 Aug;78(8):1337-41. Epub 2014 Jun 2 doi: 10.1016/j.ijporl.2014.05.023. PMID: 24954158
Hassanein AH, Alomari AI, Schmidt BA, Greene AK
J Craniofac Surg 2011 Mar;22(2):734-6. doi: 10.1097/SCS.0b013e318207f29f. PMID: 21415649
Ishige T, Kikuchi K, Miyazaki Y, Hara H, Yoshino A, Terui T, Katayama Y, Kusama K, Nemoto N
Am J Dermatopathol 2011 Feb;33(1):60-4. doi: 10.1097/DAD.0b013e3181e07891. PMID: 21239898
Wygledowska-Kania M, Kamińska-Winciorek G, Krauze E, Brzezińska-Wcisło L, Kajor M
Adv Med Sci 2007;52:251-3. PMID: 18217427

Recent systematic reviews

Schwarz Y, Pitaro J, Waissbluth S, Daniel SJ
Int J Pediatr Otorhinolaryngol 2016 Jun;85:148-53. Epub 2016 Mar 28 doi: 10.1016/j.ijporl.2016.03.026. PMID: 27240514
Ardakani NM, Palmer DL, Wood BA
Am J Dermatopathol 2016 Jan;38(1):33-8. doi: 10.1097/DAD.0000000000000329. PMID: 26730694
Handler MZ, Derrick KM, Lutz RE, Morrell DS, Davenport ML, Armstrong AW
JAMA Dermatol 2013 May;149(5):559-64. doi: 10.1001/2013.jamadermatol.115. PMID: 23426075
Thomas RW, Perkins JA, Ruegemer JL, Munaretto JA
Ear Nose Throat J 1999 Aug;78(8):541, 544-6, 548. PMID: 10485145
Wong MP, Yuen ST, Collins RJ
Diagn Cytopathol 1994;10(4):365-9; discussion 369-70. PMID: 7924812

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