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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
More Names
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Overview



What is linear nevus sebaceous syndrome?

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

What causes linear nevus sebaceous syndrome?



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

References
  1. Lien SH, Hsu ML, Yuh YS, Lee CM, Chen CC, Chang PY, Chou CY. Prenatal three dimensional ultrasound detection of linear nevus sebaceous syndrome. Archives of Disease in Childhood Fetal and Neonatal Edition. 2005; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1721920/pdf/v090p0F315.pdf. Accessed 7/21/2011.
  2. Terenzi V, Indrizzi E, Buonaccorsi S, Leonardi A, Pellacchia V, Fini G.. Nevus sebaceus of Jadassohn. J Craniofac Surg. 2006; http://www.ncbi.nlm.nih.gov/pubmed/17119437. Accessed 7/21/2011.
  3. Santibanez-Gallerani A, Marshall D, Duarte AM, Melnick SJ, Thaller S.. Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases, and literature review. J Craniofac Surg. 2003; http://www.ncbi.nlm.nih.gov/pubmed/14501324. Accessed 7/21/2011.
  4. Herman TE, Siegel MJ. Journal of Perinatology. 2001; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=11536031%5Buid%5D. Accessed 5/6/2008.