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Schimmelpenning syndrome
Cristina Resende1, Catarina Araújo, Ana Paula Vieira
1Hospital de Braga. cristinapresende@gmail.com.
Dermatology Online Journal
|October 22, 2013
Summary
Schimmelpenning syndrome (SS) is a rare condition involving epidermal nevi and potential systemic defects. Early recognition of epidermal nevi is crucial for identifying associated conditions in infants.
Area of Science:
- Dermatology
- Pediatric Neurology
- Medical Genetics
Background:
- Schimmelpenning syndrome (SS) is characterized by organoid nevus following Blaschko lines, often accompanied by systemic abnormalities.
- Associated defects can involve the central nervous system, eyes, bones, and other organs.
Observation:
- A 3-month-old female infant presented with congenital verrucous epidermal nevi following Blaschko lines on the trunk, face, and limb.
- The infant also had a scalp nevus and was diagnosed with an interauricular communication postnatally.
Findings:
- Skin biopsy confirmed a complete epidermal nevus.
- Extensive laboratory tests and imaging (cerebral MRI, renal ultrasound) ruled out other systemic involvement.
- The clinical presentation led to the diagnosis of Schimmelpenning syndrome.
Implications:
- This case highlights the importance of thorough investigation in infants with epidermal nevi to detect potential associated systemic conditions.
- Multidisciplinary follow-up is essential for managing patients diagnosed with Schimmelpenning syndrome.
- Early diagnosis and management can improve outcomes for children with complex genetic syndromes.
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