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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

Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.
Bekiesinska-Figatowska M, Sobieraj P, Pasieczna M, Szymkiewicz-Dangel J
AJNR Am J Neuroradiol 2023 Sep;44(9):1070-1076. Epub 2023 Aug 3 doi: 10.3174/ajnr.A7952. PMID: 37536734Free PMC Article
Pathophysiology and management of glaucoma associated with phakomatoses.
Thavikulwat AT, Edward DP, AlDarrab A, Vajaranant TS
J Neurosci Res 2019 Jan;97(1):57-69. Epub 2018 Apr 1 doi: 10.1002/jnr.24241. PMID: 29607552
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

Whole-exome sequencing of secondary tumors arising from nevus sebaceous revealed additional genomic alterations besides RAS mutations.
Kim YS, Park GS, Chung YJ, Lee JH
J Dermatol 2023 Aug;50(8):1072-1075. Epub 2023 Mar 20 doi: 10.1111/1346-8138.16784. PMID: 36938660
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 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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