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Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our health articles more useful.

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A hamartoma is defined as a focal growth that resembles a neoplasm but results from faulty development in an organ.[1] They can occur anywhere in the body. They have been described in many organs but especially the chest, breast, skin and brain. They are also reported in the eye, colon and liver.

It is important to note that:

  • Hamartomas are a major feature of tuberous sclerosis.[2]
  • Hypothalamic hamartoma is a rare benign brain tumour located near the hypothalamus.[3]
  • Multiple hamartomas throughout the body occur in Cowden's disease. Most isolated hamartomas are benign but in Cowden's disease there is a risk that one or more may undergo malignant change.[4]
  • Multiple benign hamartomas are called Proteus' syndrome.[5]The condition reached public attention in the film "The Elephant Man".


  • It is difficult to give an accurate assessment of incidence, as many skin lesions are simply ignored as 'birthmarks' and many internal lesions are incidental findings. Most cause no trouble but where they represent space-occupying lesions, especially in the brain, they have serious consequences.
  • Uterine fibroids are a very common form of hamartoma.
  • Cowden's disease is rare. 300 cases have been described worldwide.[4]
  • About 200 cases of Proteus' syndrome have been described worldwide.[6]

Risk factors

  • Cowden's disease and tuberous sclerosis are autosomal dominant conditions with an equal sex distribution.[7, 8]
  • The genetics of Proteus' syndrome are less certain. It may be sporadic or autosomal dominant. It was thought to be due to mutations in the PTEN suppressor gene. However, recent research has identified a mutation affecting the production of AKT1 oncogene kinase, an enzyme involved in cell proliferation.[9]


  • Symptoms depend upon the site of the lesion and they may present at any time from birth to middle age but usually early in life.
  • There may be a disfigurement of the skin.
  • It may be an incidental finding on CXR or mammography.
  • In the brain they can cause epilepsy and mental impairment is common but not inevitable and varies in severity.

In hypothalamic hamartoma

  • Epilepsy begins in infancy with gelastic or laughing seizures.[3]
  • Early childhood development is normal. The laughter is brief, frequent and mechanical in nature. It is often not recognised that the child is having a seizure and so the diagnosis is delayed.
  • Between the ages of 4 and 10, the disorder becomes more ominous. The associated episodes of laughter develop into seizures that become longer, more severe and sound less natural. Secondary generalised epilepsy may appear.
  • Multiple seizures and progressive cognitive impairment occur.
  • The child may show bouts of extreme rages, poor social adjustment and often precocious puberty.[10]


Skin and mucous membranes
Papules of various types, fibromas, keratoses, café-au-lait patches and haemangiomas are all described.


  • Hamartomas can on rare occasions present as a mass in the chest.
  • The majority are peripheral and produce no symptoms but some produce respiratory symptoms, chronic cough and haemoptysis. A small number may grow slowly.
  • They are unusual before the third decade.
  • They appear on CXR as a 'coin lesion' that has to be differentiated from a granuloma or malignant neoplasm. They are discreet and often have calcification making them radio-opaque. They are usually less than 2 cm and composed mostly of benign cartilage.


  • Hamartomas are an uncommon benign breast lesion composed of variable amounts of adipose, glandular and fibrous tissues.
  • They are usually asymptomatic but may be palpable.
  • Most occur in women aged over 35.
  • A confident diagnosis can be made on mammography when the lesion has a classical appearance.

Head and neck
It may present as a swelling or lump in the head or neck, as pain in the chin, neck or face or as hoarseness.

Gastrointestinal tract

  • Polyps can occur anywhere in the gut but are most common in the colon.
  • The malignant potential of polyps is low, unlike familial polyposis coli.
  • If an intracranial hamartoma is suspected, a positron emission tomography (PET)/CT or MRI scan is required.
  • CT or MRI scanning of the chest, or mammography, may produce enough confidence in the diagnosis to remove the need for excision biopsy.[13]
  • Antenatal diagnosis by ultrasound of a thoracic mesenchymal hamartoma has been reported.[14]
  • Tuberous sclerosis has many other features.
  • In Cowden's disease there is a risk of malignant change, especially producing breast cancer in women and follicular carcinoma of the thyroid in men.

Management depends upon a firm diagnosis followed by appropriate action. Most isolated lesions can be ignored. If it is part of a syndrome like tuberous sclerosis or Cowden's disease the management is as for that disease.


Intracranial lesions may require management of developmental delay or behavioural problems.


Epilepsy may need treatment.


  • Excision biopsy is often required for diagnosis. For skin lesions, chemical peels, laser resurfacing, surgery or shave excisions may be required.
  • Hypothalamic hamartomas are usually benign but often associated with seizures which do not respond to medication and surgical removal may be required. The lesion usually straddles the optic nerve, making removal difficult. However, various approaches have been developed, including endoscopic surgery.[15] While the procedure is relatively safe, memory loss is a common complication in older adolescents and adults.[16]
  • Pulmonary hamartomas can be removed using a thorascopic approach.[17]
  • Malignant change is common in Cowden's disease.
  • It is less common in tuberous sclerosis.
  • In isolated lesions it is rare.

In Cowden's disease:

  • The lifetime risk of breast cancer is 85%.
  • The lifetime risk of thyroid cancer is 35% (usually follicular but occasionally papillary).
  • The lifetime risk of endometrial cancer is approximately 28%.
  • One study has also reported a link with colorectal cancer.[19]

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Further reading and references

  • Nath J, Dubey A, Pavan R; Analysis of twenty pediatric cases of tuberous sclerosis complex: are we doing enough? Indian J Dermatol Venereol Leprol. 2015 Jan-Feb81(1):23-8. doi: 10.4103/0378-6323.148560.

  • Cowden Syndrome 1, CWS1; Online Mendelian Inheritance in Man (OMIM)

  1. Hamartoma; Webster's Online Dictionary

  2. Curatolo P, Bombardieri R, Jozwiak S; Tuberous sclerosis. Lancet. 2008 Aug 23372(9639):657-68.

  3. Oehl B, Brandt A, Fauser S, et al; Semiologic aspects of epileptic seizures in 31 patients with hypothalamic Epilepsia. 2010 Oct51(10):2116-23. doi: 10.1111/j.1528-1167.2010.02686.x.

  4. Patil PB, Sreenivasan V, Goel S, et al; Cowden syndrome - Clinico-radiological illustration of a rare case. Contemp Clin Dent. 2013 Jan4(1):119-23. doi: 10.4103/0976-237X.111634.

  5. Jelsig AM, Qvist N, Brusgaard K, et al; Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014 Jul 159:101. doi: 10.1186/1750-1172-9-101.

  6. Kannan U, Mishra B, Subramanian A, et al; Operative management of splenic injury in a patient with proteus syndrome. J Emerg Trauma Shock. 2014 Jul7(3):233-5. doi: 10.4103/0974-2700.136872.

  7. Lodish MB, Stratakis CA; Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab. 2010 Jun24(3):439-49. doi: 10.1016/j.beem.2010.02.002.

  8. Ha JW; Autosomal Dominant Inherited Cowden's Disease in a Family. Clin Endosc. 2013 Jan46(1):85-90. doi: 10.5946/ce.2013.46.1.85. Epub 2013 Jan 31.

  9. Alves C, Acosta AX, Toralles MB; Proteus syndrome: Clinical diagnosis of a series of cases. Indian J Endocrinol Metab. 2013 Nov17(6):1053-6. doi: 10.4103/2230-8210.122621.

  10. Pasquino AM, Pucarelli I, Cambiaso P, et al; Precocious puberty with hypothalamic hamartoma and non classical form of Minerva Pediatr. 2009 Oct61(5):561-4.

  11. Sodhi KS, Virmani V, Jindal SK, et al; Pulmonary hamartoma. Ann Acad Med Singapore. 2009 Dec38(12):1110.

  12. Souza FF, Chen E; Mesenchymal cystic hamartoma of the lung: MRI and PET/CT appearance. J Thorac Imaging. 2009 Feb24(1):52-5.

  13. Neal L, Tortorelli CL, Nassar A; Clinician's guide to imaging and pathologic findings in benign breast disease. Mayo Clin Proc. 2010 Mar85(3):274-9.

  14. Chu L, Seed M, Howse E, et al; Mesenchymal hamartoma: prenatal diagnosis by MRI. Pediatr Radiol. 2010 Dec 1.

  15. Ng YT, Rekate HL; Successful third surgery for a case of status gelasticus: Lessons learned after Epilepsia. 2011 Jan52(1):e1-3. doi: 10.1111/j.1528-1167.2010.02921.x.

  16. Anderson JF, Rosenfeld JV; Long-term cognitive outcome after transcallosal resection of hypothalamic Epilepsy Behav. 2010 May18(1-2):81-7. Epub 2010 May 11.

  17. Yamashita S, Mun M, Kono T; Pulmonary hamartoma treated by thoracoscopic enucleation. Gen Thorac Cardiovasc Surg. 2010 Jan58(1):30-2. Epub 2010 Jan 9.

  18. Eng C; PTEN Hamartoma Tumor Syndrome (PHTS)

  19. Heald B, Mester J, Rybicki L, et al; Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010 Dec139(6):1927-33. doi: 10.1053/j.gastro.2010.06.061. Epub 2010 Jun 27.