elephant man disease

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Related to elephant man disease: neurofibromatosis, Proteus syndrome, Tree Man Disease


Two distinct major hereditary disorders called type 1 and type 2. Type 1 (peripheral) neurofibromatosis, by far the more common, is characterized by patches of hyperpigmentation and both cutaneous and subcutaneous tumors. Hyperpigmented skin areas, present from birth, are called café-au-lait spots. The cutaneous and subcutaneous tumors, nerve sheath neoplasms called neurofibromas, can develop anywhere along the peripheral nerves. Neurofibromas can become large enough to cause disfigurement, erode bone, and compress peripheral nerves. If a hamartoma is found in the iris of affected patients, the disease is called von Recklinghausen disease. Type 2 (central) neurofibromatosis has few cutaneous manifestations, and consists primarily of acoustic neuromas that can cause deafness, often accompanied by other intracranial/paraspinal neoplasms, such as meningiomas and gliomas.
Synonym(s): elephant man disease (2) .

Pro·te·us syn·drome

(prō'tē-ŭs sin'drōm)
A sporadic disorder of possible genetic origin, having a variable and changing phenotype characterized by gigantism of the hands and feet, distorted abnormal growth, pigmented nevi, thickening of the palms and soles, vascular malformations, and subcutaneous lipomas; often confused with neurofibromatosis type II.
Synonym(s): elephant man disease (1) .
[G. Proteus, a sea god who had the power to change his form]

elephant man disease

Colloquial name for Recklinghausen's disease.