Phakomatosis pigmentokeratotica: Difference between revisions
No edit summary |
CSV import |
||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = Phakomatosis pigmentokeratotica | |||
| synonyms = | |||
| image = | |||
| caption = | |||
| field = [[Dermatology]], [[Neurology]] | |||
| symptoms = [[Epidermal nevus]], [[Sebaceous nevus]], [[Pigmented nevus]], [[Neurological abnormalities]] | |||
| complications = [[Neurological disorders]], [[Malignancy]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mosaicism]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[Histopathology]] | |||
| differential = [[Phakomatosis pigmentovascularis]], [[Epidermal nevus syndrome]] | |||
| treatment = [[Surgical excision]], [[Laser therapy]], [[Neurological management]] | |||
| medication = | |||
| frequency = [[Rare]] | |||
| deaths = | |||
}} | |||
'''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. | '''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 == | == Signs and Symptoms == | ||
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]]. | 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 == | == Causes == | ||
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. | 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 == | == Diagnosis == | ||
Diagnosis of phakomatosis pigmentokeratotica is based on the presence of characteristic skin lesions. A skin biopsy may be performed to confirm the diagnosis. | Diagnosis of phakomatosis pigmentokeratotica is based on the presence of characteristic skin lesions. A skin biopsy may be performed to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
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. | 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 == | == See Also == | ||
* [[List of cutaneous conditions]] | * [[List of cutaneous conditions]] | ||
* [[Epidermal nevus syndrome]] | * [[Epidermal nevus syndrome]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 04:48, 4 April 2025
| Phakomatosis pigmentokeratotica | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Epidermal nevus, Sebaceous nevus, Pigmented nevus, Neurological abnormalities |
| Complications | Neurological disorders, Malignancy |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mosaicism |
| Risks | |
| Diagnosis | Clinical diagnosis, Histopathology |
| Differential diagnosis | Phakomatosis pigmentovascularis, Epidermal nevus syndrome |
| Prevention | N/A |
| Treatment | Surgical excision, Laser therapy, Neurological management |
| Medication | |
| Prognosis | N/A |
| Frequency | Rare |
| Deaths | |
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]
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]
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]
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]
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]
References[edit]
<references />
