Epidermal nevus syndrome

Epidermal nevus

Epidermal nevus syndrome (ENS) is a rare congenital disorder characterized by the presence of epidermal nevi and various systemic abnormalities. The condition is also known as nevus sebaceous syndrome or Schimmelpenning-Feuerstein-Mims syndrome. ENS is part of a group of disorders known as neurocutaneous syndromes, which involve both the skin and the nervous system.

Clinical Features

Epidermal nevus syndrome is primarily identified by the presence of epidermal nevi, which are benign skin lesions that appear as warty or linear plaques. These nevi are typically present at birth or develop in early childhood. The skin lesions can vary in size and distribution and are often found on the head, neck, and trunk.

In addition to skin manifestations, ENS is associated with a variety of systemic abnormalities, including:

• Neurological disorders: Seizures, intellectual disability, and structural brain abnormalities such as hemimegalencephaly.
• Ophthalmologic abnormalities: Colobomas, cataracts, and other eye defects.
• Skeletal abnormalities: Limb asymmetry, scoliosis, and other bone deformities.
• Cardiovascular anomalies: Congenital heart defects.
• Urogenital abnormalities: Renal malformations and other genitourinary defects.

Pathogenesis

The exact cause of epidermal nevus syndrome is not fully understood, but it is believed to result from postzygotic somatic mutations. These mutations lead to mosaicism, where different cells in the body have different genetic makeups. The specific genes involved in ENS are still under investigation, but mutations in genes such as FGFR3, PIK3CA, and HRAS have been implicated.

Diagnosis

Diagnosis of epidermal nevus syndrome is primarily clinical, based on the presence of characteristic skin lesions and associated systemic abnormalities. Imaging studies such as MRI and CT scan may be used to identify neurological and skeletal abnormalities. Genetic testing can help confirm the diagnosis by identifying mutations associated with the condition.

Management

There is no cure for epidermal nevus syndrome, and treatment is primarily symptomatic and supportive. Management may include:

• Dermatological treatments: Topical therapies, laser treatments, and surgical removal of nevi.
• Neurological care: Antiepileptic medications for seizures and supportive therapies for developmental delays.
• Ophthalmologic care: Regular eye examinations and surgical interventions for eye abnormalities.
• Orthopedic care: Surgical correction of skeletal deformities and physical therapy.

Prognosis

The prognosis for individuals with epidermal nevus syndrome varies widely depending on the severity and extent of systemic involvement. Early diagnosis and multidisciplinary management can improve the quality of life for affected individuals.

Related Pages

• Epidermal nevus
• Neurocutaneous syndromes
• Hemimegalencephaly
• Coloboma
• Scoliosis
• Congenital heart defect