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Congenital hamartoma

MedGen UID:
224911
•Concept ID:
C1302749
•
Congenital Abnormality
Synonyms: Congenital Hamartoma; Congenital hamartosis; Hamartomatosis; Hamartomatous disease
SNOMED CT: Congenital hamartoma (399960008); Congenital hamartosis (399960008); Hamartomatous disease (399960008); Hamartomatosis (399960008)

Definition

A hamartomatous lesion which is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hamartoma

Professional guidelines

PubMed

Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ
Gastroenterology 2022 Jun;162(7):2063-2085. Epub 2022 Apr 26 doi: 10.1053/j.gastro.2022.02.021. PMID: 35487791
Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.
Mizuguchi M, Ohsawa M, Kashii H, Sato A
Int J Mol Sci 2021 Jun 22;22(13) doi: 10.3390/ijms22136677. PMID: 34206526Free PMC Article
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article

Recent clinical studies

Etiology

Malignant transformation of nevus sebaceous to basal-cell carcinoma: Case series, literature review, and management algorithm.
Lee YJ, Han HJ, Kim DY, Yoo CY, Lim JS
Medicine (Baltimore) 2022 Aug 5;101(31):e29988. doi: 10.1097/MD.0000000000029988. PMID: 35945789Free PMC Article
Congenital hamartoma of the scalp with meningothelial, sebaceus, muscular, and immature glandular components.
Ferran M, Tribó MJ, González-Rivero MA, Alameda F, Pujol RM
Am J Dermatopathol 2007 Dec;29(6):568-72. doi: 10.1097/DAD.0b013e31815710ed. PMID: 18032955
Congenital retinal arterial macrovessel and congenital hamartoma of the retinal pigment epithelium.
Souissi K, El Afrit MA, Kraiem A
J Pediatr Ophthalmol Strabismus 2006 May-Jun;43(3):181-2. doi: 10.3928/01913913-20060301-10. PMID: 16761643
Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases.
Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD
Ophthalmology 2003 May;110(5):1005-11. doi: 10.1016/S0161-6420(03)00087-3. PMID: 12750104
The role of androgen receptors in the clinical course of nevus sebaceus of Jadassohn.
Hamilton KS, Johnson S, Smoller BR
Mod Pathol 2001 Jun;14(6):539-42. doi: 10.1038/modpathol.3880346. PMID: 11406653

Diagnosis

Metastasis of a basosquamous carcinoma arising in a nevus sebaceus.
Ye Q, Shen X, Wang J, Li FZ, Fang S
J Cutan Pathol 2023 Apr;50(4):306-309. Epub 2022 Oct 4 doi: 10.1111/cup.14332. PMID: 36131688
Hamartomas of the Retina and Optic Disc.
Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Simple Congenital Hamartoma of Retinal Pigment Epithelium.
Malik TG
J Coll Physicians Surg Pak 2022 Apr;32(4):S31-S33. doi: 10.29271/jcpsp.2022.Supp1.S31. PMID: 35633004
Rare desmoplastic trichilemmoma associated with sebaceous nevus.
Jardim MML, Souza BCE, Fraga RC, Fraga RC
An Bras Dermatol 2017 Nov-Dec;92(6):836-837. doi: 10.1590/abd1806-4841.20176540. PMID: 29364442Free PMC Article
Combined hamartoma of retina and retinal pigment epithelium associated with ipsilateral congenital blepharoptosis: a rare association.
Meena M, Bhatia K
Retin Cases Brief Rep 2014 Winter;8(1):4-6. doi: 10.1097/ICB.0b013e3182984286. PMID: 25372196

Therapy

Successful treatment of late-onset nevus comedonicus with Er:YAG laser.
Aktaş Karabay E, Yapıcıer Ö
J Cosmet Dermatol 2020 Apr;19(4):863-865. Epub 2019 Jul 22 doi: 10.1111/jocd.13084. PMID: 31328868
Photodynamic therapy with verteporfin to induce regression of aggressive retinal astrocytomas.
Eskelin S, Tommila P, Palosaari T, Kivelä T
Acta Ophthalmol 2008 Nov;86(7):794-9. Epub 2008 Aug 27 doi: 10.1111/j.1755-3768.2007.01151.x. PMID: 18759802

Prognosis

OPTIC DISK ASTROCYTOMA UNASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX MANAGED WITH SURGICAL EXCISION AND A 7-YEAR FOLLOW-UP.
Lu Y, Xu Y
Retin Cases Brief Rep 2021 Jul 1;15(4):462-467. doi: 10.1097/ICB.0000000000000821. PMID: 30531252
Management of nevus sebaceous and the risk of Basal cell carcinoma: an 18-year review.
Rosen H, Schmidt B, Lam HP, Meara JG, Labow BI
Pediatr Dermatol 2009 Nov-Dec;26(6):676-81. Epub 2009 Jul 20 doi: 10.1111/j.1525-1470.2009.00939.x. PMID: 19686305
Congenital retinal arterial macrovessel and congenital hamartoma of the retinal pigment epithelium.
Souissi K, El Afrit MA, Kraiem A
J Pediatr Ophthalmol Strabismus 2006 May-Jun;43(3):181-2. doi: 10.3928/01913913-20060301-10. PMID: 16761643
Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases.
Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD
Ophthalmology 2003 May;110(5):1005-11. doi: 10.1016/S0161-6420(03)00087-3. PMID: 12750104
The role of androgen receptors in the clinical course of nevus sebaceus of Jadassohn.
Hamilton KS, Johnson S, Smoller BR
Mod Pathol 2001 Jun;14(6):539-42. doi: 10.1038/modpathol.3880346. PMID: 11406653

Clinical prediction guides

Hamartomas of the Retina and Optic Disc.
Mirzayev I, Gündüz AK
Turk J Ophthalmol 2022 Dec 28;52(6):421-431. doi: 10.4274/tjo.galenos.2022.25979. PMID: 36578224Free PMC Article
Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus.
Karabulut YY, Şenel E, Karabulut HH, Dölek Y
An Bras Dermatol 2015 Jul-Aug;90(4):519-22. doi: 10.1590/abd1806-4841.20153785. PMID: 26375221Free PMC Article
Late-onset porokeratotic eccrine ostial and dermal duct nevus associated with sensory polyneuropathy and hyperthyroidism.
Rasi A, Tajziechi L
Arch Iran Med 2008 Mar;11(2):218-20. PMID: 18298304
Congenital hamartoma of the scalp with meningothelial, sebaceus, muscular, and immature glandular components.
Ferran M, Tribó MJ, González-Rivero MA, Alameda F, Pujol RM
Am J Dermatopathol 2007 Dec;29(6):568-72. doi: 10.1097/DAD.0b013e31815710ed. PMID: 18032955
Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases.
Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD
Ophthalmology 2003 May;110(5):1005-11. doi: 10.1016/S0161-6420(03)00087-3. PMID: 12750104

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