Schimmelpenning syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Schimmelpenning syndrome | |||
| image = [[File:Sebaceous_Nevi,_Linear;_Convulsions;_and_Mental_Retardation_5.jpg|250px]] | |||
| caption = Sebaceous nevi on the scalp of a patient with Schimmelpenning syndrome | |||
| synonyms = Nevus sebaceous syndrome, Linear nevus sebaceous syndrome, Jadassohn's nevus phakomatosis | |||
| specialty = [[Dermatology]], [[Neurology]], [[Ophthalmology]] | |||
| symptoms = [[Sebaceous nevus]], [[epilepsy]], [[intellectual disability]], [[coloboma]], [[skeletal abnormalities]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Epidermal nevus syndrome]], [[Proteus syndrome]], [[Sturge-Weber syndrome]] | |||
| treatment = [[Surgical excision]], [[antiepileptic drugs]], [[supportive care]] | |||
| prognosis = Variable, depending on severity of symptoms | |||
| frequency = Rare | |||
}} | |||
'''Schimmelpenning Syndrome''' is a rare, congenital condition characterized by the presence of skin lesions and various systemic abnormalities. The syndrome is also known as '''Schimmelpenning-Feuerstein-Mims Syndrome''', '''Linear sebaceous nevus syndrome''', or '''Jadassohn nevus phakomatosis'''. | '''Schimmelpenning Syndrome''' is a rare, congenital condition characterized by the presence of skin lesions and various systemic abnormalities. The syndrome is also known as '''Schimmelpenning-Feuerstein-Mims Syndrome''', '''Linear sebaceous nevus syndrome''', or '''Jadassohn nevus phakomatosis'''. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The most common symptom of Schimmelpenning Syndrome is the presence of [[sebaceous nevus]], a type of skin lesion that is usually present at birth. These lesions are typically linear, following the lines of Blaschko, and can vary in size. They are often located on the scalp, face, or neck. | The most common symptom of Schimmelpenning Syndrome is the presence of [[sebaceous nevus]], a type of skin lesion that is usually present at birth. These lesions are typically linear, following the lines of Blaschko, and can vary in size. They are often located on the scalp, face, or neck. | ||
In addition to skin lesions, individuals with Schimmelpenning Syndrome may also have various systemic abnormalities. These can include [[intellectual disability]], seizures, and skeletal abnormalities. Eye abnormalities, such as [[coloboma]] and [[strabismus]], may also be present. | In addition to skin lesions, individuals with Schimmelpenning Syndrome may also have various systemic abnormalities. These can include [[intellectual disability]], seizures, and skeletal abnormalities. Eye abnormalities, such as [[coloboma]] and [[strabismus]], may also be present. | ||
== Causes == | == Causes == | ||
Schimmelpenning Syndrome is caused by mutations in the [[HRAS]] gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the HRAS gene lead to the production of an HRAS protein that is permanently active, which can lead to uncontrolled cell growth and division. | Schimmelpenning Syndrome is caused by mutations in the [[HRAS]] gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the HRAS gene lead to the production of an HRAS protein that is permanently active, which can lead to uncontrolled cell growth and division. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Schimmelpenning Syndrome is typically based on the presence of characteristic skin lesions and systemic abnormalities. Genetic testing can confirm the diagnosis. | The diagnosis of Schimmelpenning Syndrome is typically based on the presence of characteristic skin lesions and systemic abnormalities. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Schimmelpenning Syndrome. Treatment is symptomatic and supportive, and may include surgery to remove skin lesions, medication to control seizures, and special education services for those with intellectual disability. | There is currently no cure for Schimmelpenning Syndrome. Treatment is symptomatic and supportive, and may include surgery to remove skin lesions, medication to control seizures, and special education services for those with intellectual disability. | ||
== See Also == | == See Also == | ||
* [[Sebaceous nevus]] | * [[Sebaceous nevus]] | ||
| Line 22: | Line 34: | ||
* [[Coloboma]] | * [[Coloboma]] | ||
* [[Strabismus]] | * [[Strabismus]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:54, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Schimmelpenning syndrome | |
|---|---|
| |
| Synonyms | Nevus sebaceous syndrome, Linear nevus sebaceous syndrome, Jadassohn's nevus phakomatosis |
| Pronounce | N/A |
| Specialty | Dermatology, Neurology, Ophthalmology |
| Symptoms | Sebaceous nevus, epilepsy, intellectual disability, coloboma, skeletal abnormalities |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Epidermal nevus syndrome, Proteus syndrome, Sturge-Weber syndrome |
| Prevention | N/A |
| Treatment | Surgical excision, antiepileptic drugs, supportive care |
| Medication | N/A |
| Prognosis | Variable, depending on severity of symptoms |
| Frequency | Rare |
| Deaths | N/A |
Schimmelpenning Syndrome is a rare, congenital condition characterized by the presence of skin lesions and various systemic abnormalities. The syndrome is also known as Schimmelpenning-Feuerstein-Mims Syndrome, Linear sebaceous nevus syndrome, or Jadassohn nevus phakomatosis.
Symptoms and Signs[edit]
The most common symptom of Schimmelpenning Syndrome is the presence of sebaceous nevus, a type of skin lesion that is usually present at birth. These lesions are typically linear, following the lines of Blaschko, and can vary in size. They are often located on the scalp, face, or neck. In addition to skin lesions, individuals with Schimmelpenning Syndrome may also have various systemic abnormalities. These can include intellectual disability, seizures, and skeletal abnormalities. Eye abnormalities, such as coloboma and strabismus, may also be present.
Causes[edit]
Schimmelpenning Syndrome is caused by mutations in the HRAS gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the HRAS gene lead to the production of an HRAS protein that is permanently active, which can lead to uncontrolled cell growth and division.
Diagnosis[edit]
The diagnosis of Schimmelpenning Syndrome is typically based on the presence of characteristic skin lesions and systemic abnormalities. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for Schimmelpenning Syndrome. Treatment is symptomatic and supportive, and may include surgery to remove skin lesions, medication to control seizures, and special education services for those with intellectual disability.
