Rare Pulmonology News
Disease Profile
Linear nevus sebaceous syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q85.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Schimmelpenning Feuerstein Mims syndrome; Sebaceous nevus syndrome linear; SFM syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Rare Cancers;
Summary
Linear nevus sebaceous
Symptoms
The sebaceous nevus usually is located on the face, scalp, or neck.[1][2] It can also be located on the arms, legs or trunk. While the nevus may be barely noticeable at birth, it typically becomes more pronounced with age (usually around puberty) and may appear scaly, warty or thickened. It typically does not cause any symptoms.[6]
A variety of CNS abnormalities have been reported in people with LNSS. The most common are
- Dandy-Walker malformation
- abnormal formation of certain brain vessels
- agenesis of the corpus callosum (absence of nerve
tissue that connects the two sides of the brain) - defects of the folds of the brain, such as a lack of folds (agyria), small folds (microgyria) or thickened folds (pachygyria).
Other signs and symptoms of LNSS may include:[1][6][2]
- ophthalmologic (eye) abnormalities such as "
crossed eyes " (strabismus), retinal anomalies, coloboma,cataracts , or ocular hemangiomas - skeletal (bone) abnormalities such as cranial fibrous dysplasia, skeletal hypoplasia (incomplete formation of bones), formation of bony structures,
scoliosis , or vitamin D-resistant rickets or hypophosphatemia - heart defects such as narrowing of the aorta (aortic coarctation)
- urogenital abnormalities such as a horseshoe kidney
- an increased risk of
cancer with age
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.