Schimmelpenning syndrome
Schimmelpenning Syndrome
Schimmelpenning Syndrome (pronunciation: shim-el-pen-ning sin-drome), also known as Schimmelpenning-Feuerstein-Mims Syndrome, is a rare congenital skin disorder characterized by sebaceous nevus, often present at birth, and associated abnormalities of the central nervous system, eyes, and skeletal system.
Etymology
The syndrome is named after the German dermatologist Hans Schimmelpenning, who first described the condition in 1957. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms".
Symptoms
The most common symptom of Schimmelpenning Syndrome is the presence of a sebaceous nevus, a type of skin lesion that typically appears on the scalp or face. Other symptoms may include intellectual disability, seizures, skeletal abnormalities, and eye abnormalities such as coloboma or cataract.
Diagnosis
Diagnosis of Schimmelpenning Syndrome is typically based on the presence of a sebaceous nevus and at least one other symptom. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for Schimmelpenning Syndrome is symptomatic and supportive. This may include surgery to remove the sebaceous nevus, medication to control seizures, and special education services for those with intellectual disability.
See Also
External links
- Medical encyclopedia article on Schimmelpenning syndrome
- Wikipedia's article - Schimmelpenning syndrome
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