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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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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][2] eye abnormalities, skeletal deformities, cancer, and heart defects.[3]

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.[3]

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).[3] 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.[2]

Linear nevus sebaceous syndrome is associated with vitamin D-resistant rickets due to secretions from the linear sebaceous nevus of Jadassohn (skin lesion).[2]

Some patients with linear nevus sebaceous syndrome have heart defects, such as coarctation of the aorta and ventricular septal defects.[2]
Last updated: 8/22/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Linear nevus sebaceous syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal hair quantity 90%
Adenoma sebaceum 90%
Aplasia/Hypoplasia affecting the eye 90%
Aplasia/Hypoplasia of the cerebellum 90%
Asymmetric growth 90%
Cavernous hemangioma 90%
Cognitive impairment 90%
EEG abnormality 90%
Frontal bossing 90%
Genu recurvatum 90%
Hyperreflexia 90%
Iris coloboma 90%
Melanocytic nevus 90%
Muscular hypotonia 90%
Narrow forehead 90%
Prominent occiput 90%
Seizures 90%
Telecanthus 90%
Vertebral segmentation defect 90%
Facial asymmetry 50%
Irregular hyperpigmentation 50%
Plagiocephaly 50%
Porencephaly 50%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Cerebral calcification 7.5%
Dandy-Walker malformation 7.5%
Corneal opacity 5%
Hyperphosphaturia 5%
Ophthalmoplegia 5%
Precocious puberty 5%
Abnormality of dental color -
Abnormality of dental morphology -
Abnormality of finger -
Abnormality of toe -
Alopecia -
Basal cell carcinoma -
Coarctation of aorta -
Coloboma -
Cranial asymmetry -
Hemangioma -
Hemimegalencephaly -
Horseshoe kidney -
Hypophosphatemic rickets -
Hypopigmentation of the skin -
Ichthyosis -
Intellectual disability -
Kyphoscoliosis -
Nevus sebaceous -
Osteopenia -
Overgrowth -
Recurrent fractures -
Seizures -
Short stature -
Somatic mosaicism -
Sporadic -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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. 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.
  3. 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.


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.