Phakomatosis pigmentokeratotica
Phakomatosis pigmentokeratotica is a rare cutaneous condition, a type of epidermal nevus syndrome characterized by the combination of an organoid nevus and a speckled lentiginous nevus.
Signs and Symptoms[edit | edit source]
Phakomatosis pigmentokeratotica is characterized by the presence of a speckled lentiginous nevus and an organoid nevus. The organoid nevus is typically present at birth, while the speckled lentiginous nevus develops later in childhood. Other symptoms may include hyperhidrosis, mental retardation, and seizures.
Causes[edit | edit source]
The exact cause of phakomatosis pigmentokeratotica is unknown. It is thought to be caused by a genetic mutation that occurs during embryonic development. This mutation is not inherited from the parents.
Diagnosis[edit | edit source]
Diagnosis of phakomatosis pigmentokeratotica is based on the presence of characteristic skin lesions. A skin biopsy may be performed to confirm the diagnosis.
Treatment[edit | edit source]
There is no cure for phakomatosis pigmentokeratotica. Treatment is aimed at managing the symptoms and may include surgery to remove the skin lesions, medication to control seizures, and special education for those with mental retardation.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
