Epidermal Nevus, Somatic malady
Categories: Genetic diseases, Skin diseases, Rare diseases
Aliases & Descriptions for Epidermal Nevus, Somatic:
Orphanet epidemiological data:52
woolly hair nevus:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal
epidermal nevus, somatic:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
OMIM:50 Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as... (162900) more...
MalaCards based summary: Epidermal Nevus, Somatic, also known as epidermal nevus syndrome, is related to melanocytic nevus syndrome, congenital, somatic and schimmelpenning-feuerstein-mims syndrome, somatic mosaic, and has symptoms including melanocytic nevus and numerous nevi. An important gene associated with Epidermal Nevus, Somatic is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways are Thyroid cancer and p38MAPK events. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are neoplasm and no phenotypic analysis.
Genetics Home Reference:24 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.
NIH Rare Diseases:46 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. the nevi are seen at birth or develop in early childhood. they can be flat, tan patches of skin or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. often, epidermal nevi follow a pattern on the skin known as the “lines of blaschko”. sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; in these cases the affected people have an epidermal nevus syndrome, which is a group of different disorders. mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the fgfr3, pik3ca or, hras genes. treatment is challenging and may include topical medication and surgery. last updated: 5/27/2016
UniProtKB/Swiss-Prot:68 Keratinocytic non-epidermolytic nevus: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.
MalaCards organs/tissues related to Epidermal Nevus, Somatic:34
Skin, Brain, Bone, Eye
MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:39 (show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Epidermal Nevus, Somatic:68
Clinvar genetic disease variations for Epidermal Nevus, Somatic:5 (show all 13)
Search GEO for disease gene expression data for Epidermal Nevus, Somatic.
Pathways related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:(show top 50) (show all 112)
Biological processes related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:(show all 16)
Molecular functions related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet