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Dermis
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Epidermal nevus syndrome (ENS) is a group of disorders, not a single disease, characterized by skin hamartomas and extracutaneous abnormalities. Genetic mosaicism underlies these conditions, necessitating an interdisciplinary approach for patient management.

Keywords:
Becker's nevusCHILD syndromeENProteus syndromeepidermal nevusmosaicnevus comedonicusnevus sebaceousphakomatosis pigmentokeratoticavitamin D-resistant rickets

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Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Epidermal nevus syndrome (ENS) describes the association between epidermal hamartomas and extracutaneous abnormalities.
  • It is now recognized as a heterogeneous group of disorders with distinct genetic profiles, sharing a common cutaneous phenotype.
  • Epidermal nevi often follow Blaschko lines, with widespread cutaneous involvement correlating to increased extracutaneous risks.

Purpose of the Study:

  • To clarify the heterogeneous nature of Epidermal Nevus Syndrome (ENS).
  • To highlight the genetic underpinnings and varied clinical manifestations.
  • To emphasize the importance of an interdisciplinary approach in managing patients with ENS.

Main Methods:

  • Review of existing literature on Epidermal Nevus Syndrome.
  • Analysis of clinical and genetic data associated with various ENS subtypes.
  • Synthesis of information regarding extracutaneous manifestations and management strategies.

Main Results:

  • ENS encompasses diverse conditions like nevus sebaceus syndrome, Proteus syndrome, and CHILD syndrome.
  • Genomic mosaicism is identified as the underlying mechanism for ENS manifestations.
  • Central nervous system, eye, and skeletal system involvement are common, presenting with clinical and structural anomalies.

Conclusions:

  • Optimal management of ENS requires an interdisciplinary approach due to multisystem involvement.
  • Ongoing clinical follow-up is crucial as epidermal nevi are linked to both benign and malignant neoplasms.
  • Understanding the genetic basis of ENS is key to explaining varied clinical presentations.