Nevus, epidermal

Preferred Label : Nevus, epidermal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nevus, keratinocytic, nonepidermolytic;

Included titles and symbols : Nevus sebaceous; Nevus, woolly hair;

Description : Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). See giant pigmented hairy nevus (137550) and malignant melanoma (155600). Nevus sebaceous is a benign congenital skin lesion that preferentially affects the scalp and face. It occurs in about 1 in 1,000 live births and is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001); Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, 190020.0001); Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0004); Caused by somatic mutation in the NRAS proto-oncogene, GTPase gene (NRAS, 164790.0002);

Prefixed ID : #162900;

Details

Origin ID

162900;

UMLS CUI

C0334082;

Automatic exact mappings (from CISMeF team)
- Epidermal naevus [ICD-11 Subcategory]
- Nevus, Keratinocytic, Nonepidermolytic [MeSH concept]
- Woolly hair nevus [ORDO Disease]
- Wooly hair nevus (disorder) [SNOMED CT concept]
- nevus, pigmented [MeSH Descriptor]
Currated CISMeF NLP mapping
- Epidermal Nevus [NCIt concept]
- Epidermal naevus [MedDRA Preferred Term]
- Epidermal nevus [HPO term]
- Epidermal nevus [MedDRA LLT]
- Epidermal nevus (disorder) [SNOMED CT concept]
- Epidermal nevus (morphologic abnormality) [SNOMED CT concept]
- Nevus sebaceous [MedDRA LLT]
- Nevus sebaceous [HPO term]
- Nevus sebaceous (disorder) [SNOMED CT concept]
- Sebaceous nevus [PASCAL descriptor]
- epidermal nevus [MeSH concept]
- epidermal nevus [MeSH Supplementary Concept]
- epidermal nevus [DO Concept]
- epidermal nevus [Disease (Nov.)]
- epidermal nevus, nos [SNOMED Notion]
- nevus sebaceous [Disease (Nov.)]
DO Cross reference
- epidermal nevus [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
- Hras protooncogene, gtpase [OMIM gene]
- Nras protooncogene, gtpase [OMIM gene]
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Melanocytic nevus [HPO term]
- Numerous nevi [HPO term]
- Somatic mosaicism [HPO term]
ORDO concept(s)
- Woolly hair nevus [ORDO Disease]
See also inter- (CISMeF)
- melanocytic nevus [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermal Nevus [NCIt concept]
- Epidermal naevus [MedDRA Preferred Term]
- Epidermal nevus [HPO term]
- Epidermal nevus [MedDRA LLT]
- Epidermal nevus (disorder) [SNOMED CT concept]
- Epidermal nevus (morphologic abnormality) [SNOMED CT concept]
- Epidermal nevus syndrome [ORDO Disease]
- epidermal nevus [MeSH concept]
- epidermal nevus [MeSH Supplementary Concept]
- epidermal nevus [DO Concept]
- epidermal nevus [Disease (Nov.)]
- epidermal nevus, nos [SNOMED Notion]

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