Hamartoma
| Definition: |
A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area. |
| Notes: |
non-neoplastic; coord IM with precoord organ/diseases term (IM) |
Hamartoma Categories.
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Hamartoma Syndrome, Multiple - A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system. |
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Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, epidermal nevi, macrocephaly, cranial hyperostoses, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not neurofibromatosis, a disorder with similar characteristics. |
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Tuberous Sclerosis - An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011) |
Hamartoma Definitions and Terms
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