Schimmelpenning syndrome

Since the original identification of Schimmelpenning syndrome, the number of findings has expanded to the point that the syndrome is associated with a considerable constellation of abnormalities. The major neurological abnormalities include intellectual disability to varying extent, seizures, and hemiparesis. Seizures, when present, typically begin during the first year of life. The most common structural central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipsilateral gyral malformations. The major ocular abnormalities are colobomas and choristomas. Skeletal abnormalities may include dental irregularities, scoliosis, vitamin D-resistant rickets and hypophosphatemia. Cardiovascular abnormalities include ventricular septal defect and coarctation of the aorta; urinary system issues include horseshoe kidney and duplicated urinary collection system. ==Genetic==

Schimmelpenning syndrome appears to be sporadic rather than inherited, in almost all cases.. The mutation appears to arise after fertilization and therefore involves only a subset of cells. The earlier in embryological development such a mutation occurs, the more extensive the nevi are likely to be and the greater the likelihood of other organ system involvement. ==Management==

In general, children with a small isolated nevus and a normal physical exam do not need further testing; If syndrome issues are suspected, neurological, ocular, and skeletal exams are important. Laboratory investigations may include serum and urine calcium and phosphate, and possibly liver and renal function tests. The choice of imaging studies depends on the suspected abnormalities and might include skeletal survey, CT scan of the head, MRI, and/or EEG. Depending on the systems involved, an individual with Schimmelpenning syndrome may need to see an interdisciplinary team of specialists: dermatologist, neurologist, ophthalmologist, orthopedic surgeon, oral surgeon, plastic surgeon, psychologist. ==Incidence==

Nevus sebaceous was first identified in 1895 by Jadassohn. Sebaceous nevi occur in 1 to 3 of 1000 births, with equal incidence by sex. Prevalence is unknown, but Epidermal nevus syndrome is listed with the National Organization for Rare Disorders, which defines rare as affecting "fewer than 200,000 people in the United States." ==See also==