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Genetic and Rare Diseases Information Center (GARD)

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Linear nevus sebaceous syndrome


Other Names for this Disease

  • Jadassohn nevus phakomatosis
  • JNP
  • Nevus sebaceus of Jadassohn
  • Organoid nevus phakomatosis
  • Schimmelpenning Feuerstein Mims syndrome
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Your Question

I was wondering if you could provide me with more information on linear sebaceous nevus syndrome. My son was diagnosed with this and I am having a real hard time finding information on it.

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What is linear nevus sebaceous syndrome?

Linear nevus sebaceous syndrome is a rare condition that affects the eyes, central nervous system, and skin.[1] Symptoms may include seizures, intellectual disability, linear sebaceous nevus of Jadassohn (a congenital hairless plaque that is usually found on the scalp, face, or neck), hemimegalencephaly (abnormal enlargment of one side of the brain), eye abnormalities, skeletal deformities, heart defects, and an increased risk for cancer. This syndrome is sporadic, meaning that it occurs randomly by chance.[2][3]
Last updated: 8/22/2011

What are the signs and symptoms of linear nevus sebaceous syndrome?

Symptoms of linear nevus sebaceous syndrome include linear sebaceous nevus of Jadassohn, hemimegalencephaly (abnormal enlargment of one side of the brain), seizure, intellectual disability,[1][4] eye abnormalities, skeletal deformities, cancer, and heart defects.[2]

Linear nevus sebaceus of Jadassohn is characterized by single or multiple skin lesions. The lesions can form extensive hairless plaques, slightly elevated, circumscribed, with a soft velvety surface, yellowish in white individuals and hyperpigmented in black individuals. During puberty, the lesions grow and become more evident, warty, and sometimes nodular. During adulthood, patients have an increased risk for developing skin tumors within the lesion.[2]

Eye symptoms may include abnormally small eyes, lipodermoid scleral tumors (yellowish-white, fatty, non-cancerous scleral tumors), corneal opacity (cloudiness of the front part of the eye), eye calcifications, and coloboma (a structural defect of the eye).[2] Click here to view an interactive diagram of the eye.

People with linear nevus sebaceous syndrome may be at an increased risk for developing certain cancers such as skin, breast, salivary gland, stomach, ameloblastoma, esophageal, and bladder cancer.[4]

Linear nevus sebaceous syndrome is associated with vitamin D-resistant rickets due to secretions from the linear sebaceous nevus of Jadassohn (skin lesion).[4]

Some patients with linear nevus sebaceous syndrome have heart defects, such as coarctation of the aorta and ventricular septal defects.[4]
Last updated: 8/22/2011

What causes linear nevus sebaceous syndrome?

The cause of linear nevus sebaceous syndrome is unknown.[1]
Last updated: 8/22/2011

Is linear nevus sebaceous syndrome genetic?

The genetics of linear nevus sebaceous syndrome is not completely understood. No genes have been identified that cause this syndrome. This syndrome may be due to a random gene mutation occurring early in fetal development. All reported cases of linear nevus sebaceous syndrome have been sporadic (i.e., occurred randomly for the first time in the family). 

Linear nevus sebaceous of Jadassohn can occur alone (i.e., be isolated) or as a part of linear nevus sebaceous syndrome. There have been a few reported cases of a familial recurrance of isolated nevus sebaceous of Jadassohn.[5]
Last updated: 7/21/2011

References
Other Names for this Disease
  • Jadassohn nevus phakomatosis
  • JNP
  • Nevus sebaceus of Jadassohn
  • Organoid nevus phakomatosis
  • Schimmelpenning Feuerstein Mims syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.