Epidermal nevus syndrome
Epidermal Nevus Syndrome
Epidermal Nevus Syndrome (pronunciation: epi-der-mal nev-us sin-drome) is a rare, complex disorder characterized by the presence of skin lesions known as epidermal nevi along with various other complications affecting the brain, eyes, and other parts of the body. The term 'epidermal nevus syndrome' was first coined in the late 20th century, with 'epidermal' derived from the Greek word 'epidermis' meaning 'over the skin', 'nevus' from the Latin word 'naevus' meaning 'birthmark', and 'syndrome' from the Greek word 'syndrome' meaning 'running together'.
Symptoms and Signs
The primary symptom of Epidermal Nevus Syndrome is the presence of epidermal nevi, which are often present at birth or develop during infancy. These are typically warty, rough, and darkly pigmented patches of skin. Other symptoms can vary widely among affected individuals, depending on the specific abnormalities present. These may include neurological abnormalities, eye abnormalities, skeletal abnormalities, and others.
Causes
Epidermal Nevus Syndrome is caused by mutations in various genes. These mutations are usually not inherited but occur randomly during early embryonic development. This is known as a mosaic mutation.
Diagnosis
Diagnosis of Epidermal Nevus Syndrome is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include skin biopsy, imaging studies such as MRI or CT scan, and genetic testing.
Treatment
Treatment of Epidermal Nevus Syndrome is directed toward the specific symptoms that are apparent in each individual. This may include surgical removal or laser treatment of the epidermal nevi, medications to manage seizures or other neurological symptoms, and various therapies to manage other symptoms.
See Also
External links
- Medical encyclopedia article on Epidermal nevus syndrome
- Wikipedia's article - Epidermal nevus syndrome
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