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 abnormalities may occur in a variety of combinations, and need not include all three aspects of the classic triad of sebaceous nevus, seizures and mental retardation{{citation needed|date=August 2021}}. In 1998, a literature review by van de Warrenburg et al. found:

• seizures in 67% of cases
• intellectual disability in 61% of cases
• ophthalmological abnormalities in 59% of cases
• involvement of other organ systems in 61% of cases
• structural abnormality of cerebrum or cranium in 72% of cases{{cite journal|doi=10.1016/S0303-8467(98)00012-2|title=The linear naevus sebaceus syndrome|journal=Clinical Neurology and Neurosurgery|year=1998|vauthors=van de Warrenburg BP, van Gulik S, Renier WO, Lammens M, Doelman JC|volume=100|issue=2|pages=126–132|pmid=9746301|s2cid=21035027 }}

The major neurological abnormalities include intellectual disability to varying extent, seizures, and hemiparesis.{{cite book | last = Harper | first = J. |author2=A.P. Oranje |author3=N.S. Prose | title = Textbook of Pediatric Dermatology | publisher = Blackwell | year = 2006 | location = Malden, Mass. }} Seizures, when present, typically begin during the first year of life.{{cite journal|title=nevus sebaceous syndrome: Report of two cases and a review of the literature|journal=Pediatrics|year=1973|vauthors=Lovejoy FH Jr, Boyle WE Jr|volume=52|issue=3|pages=382–7|doi=10.1542/peds.52.3.382 |pmid=4730395|s2cid=44769311 }} The most common structural central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipselateral 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.

Schimmelpenning syndrome appears to be sporadic rather than inherited, in almost all cases. It is thought to result from genetic mosaicism, possibly an autosomal dominant mutation arising after conception and present only in a subpopulation 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.

{{Cite book | editor-last=Roach | editor-first=E. Steve | title=Neurocutaneous Disorders | publisher=Cambridge University Press | year=2004 | location=Cambridge, UK | pages=88–104 | isbn=0-521-78153-1}}

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In general, children with a small isolated nevus and a normal physical exam do not need further testing; treatment may include potential surgical removal of the nevus.{{cite journal|title=Sebaceous lesions and their associated syndromes: Part I|journal=J Am Acad Dermatol|year=2009|first=DB|last=Eisen|author2=DJ Michael |volume=61|issue=4|pages=549–60|doi= 10.1016/j.jaad.2009.04.058|pmid=19751879}} 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.

Nevus sebaceous was first identified in 1895 by Jadassohn.{{cite journal|doi=10.1007/BF01842810|title=Bemerkungen zur Histologie der systematisirten Naevi und ueber 'Talgdruesen-naevi'|journal=Archiv für Dermatologie und Syphilis|year=1895|first=J.|last=Jadassohn|volume=33|pages=355–372|s2cid=7701624 |url=https://zenodo.org/record/2020551}} Sebaceous nevi occur in 1 to 3 of 1000 births, with equal incidence by sex. There is no test to determine whether an individual born with a sebaceous nevus will go on to develop further symptoms of Schimmelpenning syndrome. It has been reported that up to 10% of individuals with epidermal nevi may develop additional syndrome symptoms, but that number appears to be inconsistent with the rarity of the syndrome and may be overstated.{{cite web|url=http://www.lnss-connections.org/aboutlnss.html |title=LNSS Connections: About Linear Nevus Sebaceous Syndrome |access-date=2010-04-15 |date=2010-04-13 }} 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."{{cite web|url=http://www.rarediseases.org/info/factsheet |title=Disease Information from NORD, National Organization of Rare Diseases, Inc. |access-date=2010-04-15 |date=2010-01-20 }}

• Epidermis
• Epidermal nevus syndrome
• Skin lesion
• List of cutaneous conditions

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Category:Epidermal nevi, neoplasms, and cysts

Category:Syndromes affecting the nervous system