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Collagenoma

MedGen UID:
1053829
•Concept ID:
CN376537
•
Finding
HPO: HP:6000022

Definition

A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCollagenoma

Conditions with this feature

Familial cutaneous collagenoma
MedGen UID:
96073
•Concept ID:
C0406817
•
Neoplastic Process
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
See: Condition Record
Familial cutaneous collagenoma

Professional guidelines

PubMed

The differential diagnosis between sclerotic fibroma and sclerosing perineurioma: An unresolved challenge.
Saggini A, Baciorri F
J Cutan Pathol 2020 Feb;47(2):195-196. Epub 2019 Dec 9 doi: 10.1111/cup.13620. PMID: 31782178

Recent clinical studies

Etiology

Connective tissue nevus misdiagnosed as juvenile localized scleroderma.
Tirelli F, Giraudo C, Soliani M, Calabrese F, Martini G, Gisondi P, Meneghel A, Zulian F
Pediatr Rheumatol Online J 2023 Oct 17;21(1):125. doi: 10.1186/s12969-023-00913-9. PMID: 37848914Free PMC Article
Beyond the "3 Ps": A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1.
Waguespack SG
Front Endocrinol (Lausanne) 2022;13:1029041. Epub 2022 Oct 17 doi: 10.3389/fendo.2022.1029041. PMID: 36325452Free PMC Article
Isolated collagenoma on the face: a rare occurrence.
Shruti S, Siraj F, Khuller G, Saxena A
Acta Dermatovenerol Alp Pannonica Adriat 2019 Mar;28(1):41-43. PMID: 30901069
Zosteriform Collagen Nevus in an Infant.
Aksu Çerman A, Aktaş E, Kıvanç Altunay IK, Demirkesen C
Acta Dermatovenerol Croat 2016 Jun;24(2):148-9. PMID: 27477177
A case of eruptive collagenoma localized on the neck and shoulders.
Amaya M, Okubo Y, Koga M
J Dermatol 2002 Feb;29(2):79-85. doi: 10.1111/j.1346-8138.2002.tb00170.x. PMID: 11890300

Diagnosis

Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.
Pierotti L, Pardi E, Dinoi E, Piaggi P, Borsari S, Della Valentina S, Sardella C, Michelucci A, Caligo MA, Bogazzi F, Marcocci C, Cetani F
Front Endocrinol (Lausanne) 2023;14:1191040. Epub 2023 Jul 7 doi: 10.3389/fendo.2023.1191040. PMID: 37484956Free PMC Article
Collagenoma of the Eyelid.
Purgert RJ, Blandford AD, Schowalter MK, Piliang MP, Hwang CJ, Perry JD
Ophthalmic Plast Reconstr Surg 2019 Mar/Apr;35(2):e29-e30. doi: 10.1097/IOP.0000000000001298. PMID: 30624411Free PMC Article
Eruptive collagenoma.
Sharma R, Verma P, Singal A, Sharma S
Indian J Dermatol Venereol Leprol 2013 Mar-Apr;79(2):256-8. doi: 10.4103/0378-6323.107658. PMID: 23442476
Nonepithelial skin tumors with multinucleated giant cells.
Gómez-Mateo Mdel C, Monteagudo C
Semin Diagn Pathol 2013 Feb;30(1):58-72. doi: 10.1053/j.semdp.2012.01.004. PMID: 23327730
Pacinian collagenoma.
Pillay P, Essa AS, Chetty R
Br J Dermatol 1999 Jul;141(1):119-22. doi: 10.1046/j.1365-2133.1999.02931.x. PMID: 10417526

Therapy

Connective tissue nevus misdiagnosed as juvenile localized scleroderma.
Tirelli F, Giraudo C, Soliani M, Calabrese F, Martini G, Gisondi P, Meneghel A, Zulian F
Pediatr Rheumatol Online J 2023 Oct 17;21(1):125. doi: 10.1186/s12969-023-00913-9. PMID: 37848914Free PMC Article
Isolated collagenoma in an HIV-positive patient on ART: a case report.
Wu KK, Movassaghi M, DeClerck B, Chow M
BMC Infect Dis 2023 Sep 2;23(1):571. doi: 10.1186/s12879-023-08548-7. PMID: 37658302Free PMC Article
Collagenoma and voiding dysfunction as complications of periurethral bulking.
Malabarey O, Walter JE
Int Urogynecol J 2015 Jul;26(7):1077-8. Epub 2015 Mar 10 doi: 10.1007/s00192-015-2649-1. PMID: 25752468
Bladder mass "collagenoma".
Crites MA, Ghoniem GM
Int Urogynecol J 2011 May;22(5):621-3. Epub 2010 Nov 24 doi: 10.1007/s00192-010-1310-2. PMID: 21107815
Linear nodular collagenoma--successful treatment with intralesional triamcinolone acetonide.
Sardana K, Bansal S, Garg VK, Khurana N
Pediatr Dermatol 2009 Sep-Oct;26(5):626-8. doi: 10.1111/j.1525-1470.2009.01003.x. PMID: 19840332

Prognosis

Eruptive collagenoma in a child.
António AM, Alves J, Barreiros H, Bártolo E
Dermatol Online J 2017 Jan 15;23(1) PMID: 28329478
Incidental angiofibromas prompt a diagnosis of multiple endocrine neoplasia type-1 (MEN-1).
Roman JW, Logemann NF, Adams E
Dermatol Online J 2014 Sep 16;20(9) PMID: 25244167
A case of eruptive collagenoma localized on the neck and shoulders.
Amaya M, Okubo Y, Koga M
J Dermatol 2002 Feb;29(2):79-85. doi: 10.1111/j.1346-8138.2002.tb00170.x. PMID: 11890300

Clinical prediction guides

Giant cell collagenomas associated with Cowden syndrome: A case report.
Salusti-Simpson M, Madrid M, Cook D
J Cutan Pathol 2024 May;51(5):345-347. Epub 2024 Feb 9 doi: 10.1111/cup.14595. PMID: 38337148
Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma.
Pakyari M, Mahadevan NR, Russell-Goldman E
Am J Surg Pathol 2024 Feb 1;48(2):150-156. Epub 2023 Oct 30 doi: 10.1097/PAS.0000000000002146. PMID: 37899509
Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.
Pierotti L, Pardi E, Dinoi E, Piaggi P, Borsari S, Della Valentina S, Sardella C, Michelucci A, Caligo MA, Bogazzi F, Marcocci C, Cetani F
Front Endocrinol (Lausanne) 2023;14:1191040. Epub 2023 Jul 7 doi: 10.3389/fendo.2023.1191040. PMID: 37484956Free PMC Article
MEN1 clinical background.
Igaz P
Adv Exp Med Biol 2009;668:1-15. doi: 10.1007/978-1-4419-1664-8_1. PMID: 20175448
Familial cutaneous collagenoma.
Dawn ME, Deng AC, Petrali J, Wessely C, Jaffe D, Gaspari AA
Skinmed 2008 Jan-Feb;7(1):43-5. doi: 10.1111/j.1540-9740.2007.06353.x. PMID: 18174804

Recent systematic reviews

Buschke-Ollendorff syndrome: a novel case series and systematic review.
Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I
Br J Dermatol 2016 Apr;174(4):723-9. Epub 2016 Mar 8 doi: 10.1111/bjd.14366. PMID: 26708699

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