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Congenital smooth muscle hamartoma, with or without hemihypertrophy(CSMH)

MedGen UID:
1847218
•Concept ID:
C5882676
•
Congenital Abnormality
Synonym: CSMH
 
Monarch Initiative: MONDO:0957564
OMIM®: 620470

Definition

Congenital smooth muscle hamartoma (CSMH) is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy (Atzmony et al., 2020). [from OMIM]

Clinical features

From HPO
Hamartoma
MedGen UID:
6713
•Concept ID:
C0018552
•
Neoplastic Process
A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
See: Feature record | Search on this feature
Hemihypertrophy
MedGen UID:
90701
•Concept ID:
C0332890
•
Congenital Abnormality
Overgrowth of only one side of the body.
See: Feature record | Search on this feature
Hypertrichosis
MedGen UID:
43787
•Concept ID:
C0020555
•
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Management of bilateral Wilms tumours.
Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.
MacFarland SP, Mostoufi-Moab S, Zelley K, Mattei PA, States LJ, Bhatti TR, Duffy KA, Brodeur GM, Kalish JM
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 9 doi: 10.1002/pbc.26432. PMID: 28066990Free PMC Article
Management of bilateral Wilms tumours.
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101

Recent clinical studies

Therapy

Hamartomas and other tumor-like malformations of the lungs and heart.
Wick MR
Semin Diagn Pathol 2019 Jan;36(1):2-10. Epub 2018 Nov 16 doi: 10.1053/j.semdp.2018.11.002. PMID: 30473462
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Management of bilateral Wilms tumours.
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498

Prognosis

Management of bilateral Wilms tumours.
Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Management of bilateral Wilms tumours.
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth.
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Hepatoblastoma in children with Beckwith-Wiedemann syndrome: does it warrant different treatment?
Trobaugh-Lotrario AD, Venkatramani R, Feusner JH
J Pediatr Hematol Oncol 2014 Jul;36(5):369-73. doi: 10.1097/MPH.0000000000000129. PMID: 24608075
Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation.
Kundu RV, Frieden IJ
Pediatr Dermatol 2003 May-Jun;20(3):199-206. doi: 10.1046/j.1525-1470.2003.20303.x. PMID: 12787266

Clinical prediction guides

Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Radley JA, Connolly M, Sabir A, Kanani F, Carley H, Jones RL, Hyder Z, Gompertz L, Reardon W, Richardson R, McClelland L, Maher ER
Clin Genet 2021 Sep;100(3):292-297. Epub 2021 Jun 6 doi: 10.1111/cge.13997. PMID: 33993487
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.
Duffy KA, Grand KL, Zelley K, Kalish JM
J Genet Couns 2018 Aug;27(4):844-853. Epub 2017 Dec 4 doi: 10.1007/s10897-017-0182-8. PMID: 29204812Free PMC Article
Malformations, genetic abnormalities, and Wilms tumor.
Dumoucel S, Gauthier-Villars M, Stoppa-Lyonnet D, Parisot P, Brisse H, Philippe-Chomette P, Sarnacki S, Boccon-Gibod L, Rossignol S, Baumann C, Aerts I, Bourdeaut F, Doz F, Orbach D, Pacquement H, Michon J, Schleiermacher G
Pediatr Blood Cancer 2014 Jan;61(1):140-4. Epub 2013 Aug 23 doi: 10.1002/pbc.24709. PMID: 23970395
Vascular anomalies in Proteus syndrome.
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498
A child with adrenocortical adenoma accompanied by congenital hemihypertrophy: report of a case.
Hara F, Kishikawa T, Tomishige H, Nishikawa O, Nishida Y, Kongo M
Surg Today 2000;30(9):861-5. doi: 10.1007/s005950070075. PMID: 11039721

Recent systematic reviews

Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report.
Munhoz L, Arita ES, Nishimura DA, Watanabe PCA
Oral Radiol 2021 Jan;37(1):2-12. Epub 2019 Nov 16 doi: 10.1007/s11282-019-00416-y. PMID: 31734933
Clinical features, treatment, and outcomes of bilateral Wilms' tumor: A systematic review and meta-analysis.
Han Q, Li K, Dong K, Xiao X, Yao W, Liu G
J Pediatr Surg 2018 Dec;53(12):2465-2469. Epub 2018 Sep 1 doi: 10.1016/j.jpedsurg.2018.08.022. PMID: 30274708
Surgical correction for unilateral lambdoid synostosis: a systematic review.
Al-Jabri T, Eccles S
J Craniofac Surg 2014 Jul;25(4):1266-72. doi: 10.1097/SCS.0000000000000961. PMID: 24978452

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