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

MedGen UID:
1847218
•Concept ID:
C5882676
•
Congenital Abnormality
Synonym: CSMH
 
Gene (location): ACTB (7p22.1)
 
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

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
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

Recent clinical studies

Etiology

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
Overgrowth syndromes with vascular malformations.
Hagen SL, Hook KP
Semin Cutan Med Surg 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049. PMID: 27607325
Follow-up and risk of tumors in overgrowth syndromes.
Gracia Bouthelier R, Lapunzina P
J Pediatr Endocrinol Metab 2005 Dec;18 Suppl 1:1227-35. doi: 10.1515/jpem.2005.18.s1.1227. PMID: 16398453
What is the risk of cancer in a child with hemihypertrophy?
Abraham P
Arch Dis Child 2005 Dec;90(12):1312-3. doi: 10.1136/adc.2005.082792. PMID: 16301564Free PMC Article
Hemihypertrophy.
Leung AK, Fong JH, Leong AG
J R Soc Promot Health 2002 Mar;122(1):24-7. doi: 10.1177/146642400212200111. PMID: 11989139

Diagnosis

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
Overgrowth syndromes with vascular malformations.
Hagen SL, Hook KP
Semin Cutan Med Surg 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049. PMID: 27607325
What is the risk of cancer in a child with hemihypertrophy?
Abraham P
Arch Dis Child 2005 Dec;90(12):1312-3. doi: 10.1136/adc.2005.082792. PMID: 16301564Free PMC Article
Hemihypertrophy. Concepts and controversies.
Ballock RT, Wiesner GL, Myers MT, Thompson GH
J Bone Joint Surg Am 1997 Nov;79(11):1731-8. doi: 10.2106/00004623-199711000-00016. PMID: 9384434
Congenital hemihypertrophy.
Davies P
Dev Med Child Neurol 1966 Apr;8(2):213-4. doi: 10.1111/j.1469-8749.1966.tb01732.x. PMID: 5957183

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
Osteomyelitis of the condyle secondary to pericoronitis of a third molar: a case and literature review.
Wang R, Cai Y, Zhao YF, Zhao JH
Aust Dent J 2014 Sep;59(3):372-4. Epub 2014 Jul 22 doi: 10.1111/adj.12186. PMID: 24819410
Klippel Trenauny Syndrome.
Jalil J, Shafique M, Ghafoor T, Amin U
J Pak Med Assoc 2007 Mar;57(3):150-1. PMID: 17432023
Congenital hemihypertrophy with indifference to pain. Report of a case and its possible implications.
Fox JH, Huott AD
Arch Neurol 1974 Jun;30(6):490-3. doi: 10.1001/archneur.1974.00490360066014. PMID: 4133239

Prognosis

Macrodystrophia lipomatosa involving multiple nerves.
Rohilla S, Jain N, Sharma R, Dhaulakhandi DB
J Orthop Traumatol 2012 Mar;13(1):41-5. Epub 2011 Sep 27 doi: 10.1007/s10195-011-0159-6. PMID: 21948052Free PMC Article
Klippel Trenauny Syndrome.
Jalil J, Shafique M, Ghafoor T, Amin U
J Pak Med Assoc 2007 Mar;57(3):150-1. PMID: 17432023
Hemihypertrophy, hemimegalencephaly, and polydactyly.
Reardon W, Harding B, Winter RM, Baraitser M
Am J Med Genet 1996 Dec 11;66(2):144-9. doi: 10.1002/(SICI)1096-8628(19961211)66:2<144::AID-AJMG4>3.0.CO;2-R. PMID: 8958320
Congenital hemihypertrophy.
Bueno I, Ventura P, Samper MP, Pérez González JM, Bueno M
Genet Couns 1993;4(3):231-4. PMID: 8267934
Hemihypertrophy of the human corpus cavernosum.
Fitzpatrick TJ
J Urol 1976 May;115(5):560-1. doi: 10.1016/s0022-5347(17)59282-4. PMID: 1271551

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
Unilateral dilation of virchow-robin spaces in early childhood.
Brockmann K, Gröschel S, Dreha-Kulaczewski S, Reinhardt K, Gärtner J, Dechent P
Neuropediatrics 2009 Oct;40(5):234-8. Epub 2010 Mar 10 doi: 10.1055/s-0029-1246158. PMID: 20221960
Epidermal nevus syndrome: subgroup with neuronal migration defects.
el-Shanti H, Bell WE, Waziri MH
J Child Neurol 1992 Jan;7(1):29-34. doi: 10.1177/088307389200700105. PMID: 1552148
Hemihypertrophy of the human corpus cavernosum.
Fitzpatrick TJ
J Urol 1976 May;115(5):560-1. doi: 10.1016/s0022-5347(17)59282-4. PMID: 1271551
Congenital hemihypertrophy; report of a case with postmortem observations.
RUGEL SJ
Am J Dis Child (1911) 1946 May;71:530-6. doi: 10.1001/archpedi.1946.02020280075008. PMID: 20986607

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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