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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
SNOMED CT: 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)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CTNNB1 (3p22.1)
 
HPO: HP:0030434
Monarch Initiative: MONDO:0007564
OMIM®: 132600
Orphanet: ORPHA91414

Definition

Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018). [from OMIM]

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/pilomatricoma

Clinical features

From HPO
Pilomatrixoma
MedGen UID:
61666
Concept ID:
C0206711
Neoplastic Process
Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018).

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
Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. The lesions occur most commonly in the first or second decades. They occur thoughout the body but most often in the head and neck region (review by Jones et al., 2018).
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
MedGen UID:
1824057
Concept ID:
C5774284
Disease or Syndrome
Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Yang J, Zhao Y, Zhang H, Wang J
J Fr Ophtalmol 2023 May;46(5):495-500. Epub 2023 Feb 8 doi: 10.1016/j.jfo.2022.10.009. PMID: 36759243
Wijekoon N, Antony D, Muhunthan T, Samarasinghe M
Pediatr Surg Int 2022 Dec 21;39(1):55. doi: 10.1007/s00383-022-05348-z. PMID: 36542175
Dubb M, Michelow P
Acta Cytol 2009 Nov-Dec;53(6):683-8. PMID: 20014559

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Bernárdez C, Requena L
Actas Dermosifiliogr (Engl Ed) 2018 Jan-Feb;109(1):6-23. Epub 2017 Oct 6 doi: 10.1016/j.ad.2017.04.005. PMID: 28988763
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
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
Sau P, Lupton GP, Graham JH
Cancer 1993 Apr 15;71(8):2491-8. doi: 10.1002/1097-0142(19930415)71:8<2491::aid-cncr2820710811>3.0.co;2-i. PMID: 8453573

Diagnosis

Zhao A, Kedarisetty S, Arriola AGP, Isaacson G
Ear Nose Throat J 2024 Mar;103(3):183-189. Epub 2021 Sep 22 doi: 10.1177/01455613211044778. PMID: 34549614
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Yang J, Zhao Y, Zhang H, Wang J
J Fr Ophtalmol 2023 May;46(5):495-500. Epub 2023 Feb 8 doi: 10.1016/j.jfo.2022.10.009. PMID: 36759243
Jones CD, Ho W, Robertson BF, Gunn E, Morley S
Am J Dermatopathol 2018 Sep;40(9):631-641. doi: 10.1097/DAD.0000000000001118. PMID: 30119102
Beattie G, Tai C, Pinar Karakas S, Cham E, Idowu O, Kim S
Ann R Coll Surg Engl 2018 Feb;100(2):e38-e40. Epub 2017 Nov 28 doi: 10.1308/rcsann.2017.0196. PMID: 29182000Free PMC Article

Therapy

Yang Z, Song F, Winters L, Zhong J
Am J Case Rep 2023 Dec 6;24:e942280. doi: 10.12659/AJCR.942280. PMID: 38055654Free PMC Article
Bernárdez C, Requena L
Actas Dermosifiliogr (Engl Ed) 2018 Jan-Feb;109(1):6-23. Epub 2017 Oct 6 doi: 10.1016/j.ad.2017.04.005. PMID: 28988763
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Kraft S, Granter SR
Arch Pathol Lab Med 2014 Jun;138(6):759-87. doi: 10.5858/arpa.2013-0157-RA. PMID: 24878016
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

Prognosis

Garg A, Malhotra R, Urs AB
J Oral Biosci 2022 Jun;64(2):202-209. Epub 2022 Apr 6 doi: 10.1016/j.job.2022.03.005. PMID: 35398253
Jones CD, Ho W, Robertson BF, Gunn E, Morley S
Am J Dermatopathol 2018 Sep;40(9):631-641. doi: 10.1097/DAD.0000000000001118. PMID: 30119102
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Simón RS, Sánchez-Yus E
Dermatology 2002;204(1):80-1. doi: 10.1159/000051818. PMID: 11834858
Sau P, Lupton GP, Graham JH
Cancer 1993 Apr 15;71(8):2491-8. doi: 10.1002/1097-0142(19930415)71:8<2491::aid-cncr2820710811>3.0.co;2-i. PMID: 8453573

Clinical prediction guides

Zaballos P, Gómez-Martín I, Martin JM, Bañuls J
Dermatol Clin 2018 Oct;36(4):397-412. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.007. PMID: 30201149
Jones CD, Ho W, Robertson BF, Gunn E, Morley S
Am J Dermatopathol 2018 Sep;40(9):631-641. doi: 10.1097/DAD.0000000000001118. PMID: 30119102
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
Lozzi GP, Soyer HP, Fruehauf J, Massone C, Kerl H, Peris K
Am J Dermatopathol 2007 Jun;29(3):286-9. doi: 10.1097/DAD.0b013e318053db45. PMID: 17519628
Duflo S, Nicollas R, Roman S, Magalon G, Triglia JM
Arch Otolaryngol Head Neck Surg 1998 Nov;124(11):1239-42. doi: 10.1001/archotol.124.11.1239. PMID: 9821927

Recent systematic reviews

Panda SK, Sahoo PK, Agarwala SK, Houghton TT, Sankar KV, Mohanty P
J Cancer Res Ther 2023 Jul-Sep;19(5):1098-1102. doi: 10.4103/jcrt.jcrt_720_21. PMID: 37787269
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

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